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Sample records for aortic hypoplasia presented

  1. Becker nevus syndrome presented with ipsilateral breast hypoplasia.

    PubMed

    Pektas, Suzan Demir; Akoglu, Gulsen; Metin, Ahmet; Adiyaman, Nuran Sungu; Demirseren, Mustafa Erol

    2014-11-01

    Becker nevus syndrome (BNS) is a rare epidermal nevus syndrome characterized with Becker nevus and ipsilateral breast gland hypoplasia or other skin, skeletal and/or muscle tissue disorders. A 24-year-old woman presented with brown, irregular bordered patch with a diameter of approximately 10 cm which consisted of several small macules on the left breast skin. The ultrasonography and magnetic resonance imaging revealed left breast hypoplasia. Histopathological examination demonstrated minimal acanthosis, papillomatosis, increase in basal layer melanin and hypertrophy of the erector pili muscle. Immunohistochemical staining was positive for androgen in the epidermis, dermal stromal cells and skin appendages. Depending on the clinical and histopathological findings, the patient was diagnosed as BNS. Diagnosis of BNS needs careful examination of pigmented macules and patches since non-hairy BN may be easily overlooked. Patients with BN should be evaluated for associated abnormalities of BNS, in which the severity and extend of ectodermal involvement may differ from patient to other. PMID:25484431

  2. Multiple myeloma presenting with coexisting severe marrow hypoplasia.

    PubMed

    Medhi, K; Kalita, Dipti; Chopra, Anita; Anand, Mona; Raina, Vinod; Kumar, Rajive

    2008-01-01

    A 68-year-old man was referred to us with clinical and bone marrow (BM) features compatible with aplastic anemia. The correct diagnosis, hypoplasia of the BM coexisting with multiple myeloma, became apparent after noting rouleaux in the peripheral blood (PB) and approximately 50% plasma cells in the touch imprint of one of the two BM biopsies done. As standard therapy was precluded, the patient was put on dexamethasone but died within 4 days. This first case of the coexistence of untreated myeloma with aplastic BM shows that even apparently straightforward hypoplasia seen on the BM biopsy should be interpreted in conjunction with the PB smear and the BM touch imprint findings. Among other things, the BM biopsy and imprint should be repeated if the PB has findings such as rouleaux that do not fit with straightforward aplastic anemia. The combination of myeloma and BM aplasia precludes standard therapy and is rapidly fatal. PMID:19008591

  3. Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.

    PubMed

    Capasso, Letizia; Borrelli, Angela Carla; Cerullo, Julia; Pirozzi, Maria Rosaria; Raimondi, Francesco

    2016-09-01

    Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia. PMID:27617157

  4. Peripartum presentation of an acute aortic dissection.

    PubMed

    Lewis, S; Ryder, I; Lovell, A T

    2005-04-01

    We report the case of an acute type A aortic dissection occurring in a 35-year-old parturient. The initial diagnosis was missed; a subsequent emergency Caesarean section 3 weeks after presentation was followed by the development of left ventricular failure and pulmonary oedema in the early postoperative period. Echocardiography confirmed the diagnosis of aortic dissection and the patient underwent a successful surgical repair. PMID:15640303

  5. WUnicuspid Aortic Valve- An Uncommon Anomaly With a Common Presentation.

    PubMed

    Sitwala, Puja; Abusara, Ashraf; Ladia, Vatsal; Ladia, Vatsal; Panchal, Hemang B; Raudat, Charles; Paul, Timir K

    2016-01-01

    Unicuspid aortic valve (UAV), which is a rare congenital anomaly, usually presents as aortic stenosis and/or aortic regurgitation. Here we present a case of UAV co-existent with an ascending aortic aneurysm. A 26-year-old male with no significant past medical history presented to the hospital after two episodes of syncope. Transthoracic echocardiogram showed an ejection fraction of 62%, severely stenotic aortic valve, and moderate aortic regurgitation. Computed tomography revealed calcification of the aortic valve, compatible with aortic stenosis and aneurysm of the ascending aorta measuring 4.3 cm in diameter. He underwent successful aortic valve replacement and repair of ascending aortic aneurysm. He recovered well without any complications. This case suggests that any young patient who presents with syncope, aortic stenosis would be a differential and further workup by any available non-invasive modality needs to be performed. PMID:27383857

  6. Complex Cervical Aortic Arch With Hypoplasia: A Simple Solution to a Complex Problem.

    PubMed

    Rajbanshi, Bijoy G; Gautam, Navin C; Pradhan, Sidhartha; Sharma, Apurb; Ghimire, Ram K; Joyce, Lyle D

    2016-07-01

    We report a rare case of a 6-year-old boy with a complex right-sided cervical aortic arch, with retroesophageal hypoplastic transverse arch, left subclavian artery arising from the Kommerell diverticulum of the descending aorta, and a vascular ring formed by the ductus ligament. An extraanatomic ascending-to-descending aorta bypass was done through a median sternotomy along with division of the ductus ligament, without any complications and good results. PMID:27343523

  7. Painless Aortic Dissection Presenting as Paraplegia

    PubMed Central

    Colak, Necmettin; Nazli, Yunus; Alpay, Mehmet Fatih; Akkaya, Ismail Olgun; Cakir, Omer

    2012-01-01

    Acute dissection of the aorta can be life-threatening. As a presenting manifestation of aortic dissection, neurologic complications such as paraplegia are rare. Herein, we report the case of a 51-year-old man who presented with sudden-onset paraplegia and ischemia of the legs, with no chest or back pain. His medical history included coronary artery bypass grafting. Physical examination revealed pulseless lower extremities, and computed tomography showed aortic dissection from the ascending aorta to the common iliac arteries bilaterally. A lumbar catheter was inserted for cerebrospinal fluid drainage, and axillary arterial cannulation was established. With the use of cardiopulmonary bypass, the aortic dissection was corrected, and the previous coronary artery grafts were reattached. The surgery restored spinal and lower-extremity perfusion, and the patient walked unaided from the hospital upon his discharge 5 days later. Although acute aortic dissection presenting as paraplegia is rare, it should be considered in patients who have pulseless femoral arteries bilaterally and sudden-onset paraplegia, despite no pain in the chest or back. Prompt diagnosis and intervention can prevent morbidity and death. PMID:22740752

  8. Chronological hypoplasia: aesthetic management

    PubMed Central

    Jayam, Cheranjeevi; Bandlapalli, Anila; Patel, Nikunj; Choudhary, Rama Shankar Kashinath

    2014-01-01

    Enamel hypoplasia is defined as a break in the continuity of enamel with a reduction in the layers leading to depressions or grooves. Chronological hypoplasia is differentiated from other forms of hypoplasia due to its characteristic presentation (multiple, symmetrical, chronological pattern). Chronological hypoplasias are seen at the time tooth erupts into the oral cavity leading to several problems like aesthetic problems, tooth sensitivity, caries and early pulpal involvement. Prevention of interaction of aetiological factors is not possible because multiple factors are required for enamel synthesis. This paper highlights how to diagnose, intercept and treat chronological hypoplasias. It also mentions reasons for treating a case and different modalities available. PMID:24907208

  9. Aortic Disease Presentation and Outcome Associated with ACTA2 mutations

    PubMed Central

    Regalado, Ellen S.; Guo, Dongchuan; Prakash, Siddharth; Bensend, Tracy A.; Flynn, Kelly; Estrera, Anthony; Safi, Hazim; Liang, David; Hyland, James; Child, Anne; Arno, Gavin; Boileau, Catherine; Jondeau, Guillaume; Braverman, Alan; Moran, Rocio; Morisaki, Takayuki; Morisaki, Hiroko; Consortium, Montalcino Aortic; Pyeritz, Reed; Coselli, Joseph; LeMaire, Scott; Milewicz, Dianna M.

    2015-01-01

    Background ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations. Methods and Results Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of 277 individuals with 41 various ACTA2 mutations. Aortic events occurred in 48% of these individuals, with the vast majority presenting with thoracic aortic dissections (88%) associated with 25% mortality. Type A dissections were more common than type B dissections (54% versus 21%), but the median age of onset of type B dissections was significantly younger than type A dissections (27 years, IQR 18–41 versus 36 years, IQR 26–45). Only 12% of aortic events were repair of ascending aortic aneurysms, which variably involved the aortic root, ascending aorta and aortic arch. Overall cumulative risk of an aortic event at age 85 years was 0.76 (95% CI 0.64, 0.86). After adjustment for intra-familial correlation, gender and race, mutations disrupting p.R179 and p.R258 were associated with significantly increased risk for aortic events, whereas p.R185Q and p.R118Q mutations showed significantly lower risk of aortic events compared to other mutations. Conclusions ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations. PMID:25759435

  10. Syphilitic aortic aneurysm presenting with upper airway obstruction.

    PubMed

    Waikittipong, Somchai

    2012-10-01

    Syphilitic aortic aneurysms are uncommon today. A rare case of syphilitic aortic arch aneurysm with successful surgical treatment is reported. A 42-year-old man presented with upper airway obstruction. Chest radiography showed a superior mediastinal mass, and computed tomography revealed a large saccular aortic arch aneurysm that compressed the trachea. Dacron graft replacement of the aortic arch was successfully performed under circulatory arrest with antegrade cerebral perfusion. PMID:23087303

  11. Rheumatic aortic stenosis in young patients presenting with combined aortic and mitral stenosis.

    PubMed Central

    Vijayaraghavan, G; Cherian, G; Krishnaswami, S; SUKUMAR, I P; John, S

    1977-01-01

    This report describes 30 patients under the age of 30 years with rheumatic aortic stenosis, presenting with combined aortic and mitral stenosis. Three patients had additional tricuspid stenosis. Twenty-eight patients gave a history of rheumatic polyarthritis. The diagnosis was confirmed by right and left heart catheterisation in all. The murmur of aortic stenosis was not initially present in 8 out of 10 patients in congestive heart failure. Aortic valve calcification was not seen. Cineangiography showed a tricuspid aortic valve in all, unlike congenital aortic stenosis. A unique feature of this group was the raised pulmonary vascular resistance in 87 per cent of the patients. The present study shows that patients in India developing aortic stenosis after rheumatic fever do so early in the natural history of the disease. PMID:849390

  12. [Maxillary sinus hypoplasia].

    PubMed

    Plaza, G; Ferrando, J; Martel, J; Toledano, A; de los Santos, G

    2001-03-01

    Maxillary sinus hypoplasia is rare, with an estimated prevalence of 1-5%. Out of the CT scans performed in sinusal patients between March 1998 and June 1999, we report on 4 isolated maxillary sinus hypoplasia, 4 maxillary sinus hypoplasia associated to concha bullosa, and 10 isolated conchae bullosas. All cases were evaluated by nasosinusal endoscopy and CT scan. Size, location and uni/bilateral presentation of concha bullosa is correlated to maxillary sinus hypoplasia presence, specially with regards to uncinate process presence, medial or lateral retraction. The pathogenesis of maxillary sinus hypoplasia is reviewed, and its relation to concha bullosa, evaluating how this could explain some cases of the so called chronic maxillary sinus atelectasia, as an acquired and progressive variant of maxillary sinus hypoplasia in adults. PMID:11428268

  13. The many faces of aortic dissections: Beware of unusual presentations.

    PubMed

    Scaglione, Mariano; Salvolini, Luca; Casciani, Emanuele; Giovagnoni, Andrea; Mazzei, Maria Antonietta; Volterrani, Luca

    2008-03-01

    Aortic dissection is gaining recognition in Western societies, and it is being diagnosed with increasing frequency. New diagnostic imaging modalities, longer life expectancy, as well as the increase in the number patients suffering from hypertension have all contributed to the growing awareness of aortic dissection. Nevertheless, as many as 30% of patients ultimately diagnosed with acute dissection are first thought to be suffering from something else. The increased availability and use of multidetector computed tomography has led to the incidental discovery of aortic dissection in very different settings. This article focuses on unusual presentations of painless aortic dissection. It is important for radiologists to remember that aortic dissections may present in different ways, not only as an acute, critical fatality but also with subtle, unusual signs and symptoms, which apparently do not seem to be strictly related to aortic diseases. PMID:17950552

  14. Chronic Thoracic Aortic Aneurysm Presenting 29 Years following Trauma

    PubMed Central

    Miller, Sarah; Kumar, Prashant; Van den Bosch, Rene; Khanafer, Adib

    2015-01-01

    Blunt, nonpenetrating injuries of the thoracic aorta are uncommon and associated with a high mortality rate within the first hour. Aortic injury is missed in 1-2% of patients that survive to hospital, and a chronic thoracic aortic aneurysm may subsequently form. We present a case in which a chronic thoracic aortic aneurysm was diagnosed 29 years following a significant motor vehicle accident. We discuss the epidemiology, presentation, and management of this uncommon consequence of blunt, nonpenetrating aortic injury. Our case illustrates an important clinical lesson; a past medical history of trauma should not be overlooked at any patient assessment. PMID:26351610

  15. [Aortic intramural hematoma fissuration: atypical presentation in an aircraft pilot].

    PubMed

    Fozzato, Francesca; Prioli, Maria Antonia; Santini, Francesco; Menini, Fabio; Pavan, Michela; Guarise, Paola; Vassanelli, Corrado

    2010-02-01

    Aortic intramural hematoma is a life-threatening thoracic aortic pathology. In this report we describe a case of fissuration of an aortic intramural hematoma with atypical clinical presentation, which occurred in an aircraft pilot. The patient was admitted to our emergency room with transient chest pain developed during a flight landing, followed only by persistent abdominal pain. The ECG and cardiac enzymes were normal. A portable two-dimensional transthoracic echocardiogram showed aortic root dilation and pericardial effusion. Transesophageal echocardiography showed aortic intramural hematoma with fissuration into the pericardial space. The angio-computed tomography confirmed the diagnosis. Two hours after admission the patient, with signs of cardiac tamponade, underwent Bentall surgical intervention without complications. PMID:20408481

  16. Aortic angiography

    MedlinePlus

    ... with the aorta or its branches, including: Aortic aneurysm Aortic dissection Congenital (present from birth) problems AV ... Abnormal results may be due to: Abdominal aortic aneurysm Aortic dissection Aortic regurgitation Aortic stenosis Congenital (present ...

  17. Acute Aortic Occlusion Presenting as Flaccid Paraplegia

    PubMed Central

    Kilany, Ayman; Al-Hashel, Jasem Y.; Rady, Azza

    2015-01-01

    A 67-year-old male known to be hypertensive and diabetic had a sudden onset of severe low back pain and flaccid paraplegia with no sensory level or bladder affection and the distal pulsations were felt. Acute compressive myelopathy was excluded by MRI of the dorsal and lumbar spines. The nerve conduction study and CSF analysis was suggestive of acute demyelinating polyneuropathy. The patient developed ischemic changes of the lower limb and CT angiography revealed severe stenosis of the abdominal aorta and both common iliac arteries. We emphasize the importance of including acute aortic occlusion in the differential diagnosis of acute flaccid paraplegia especially in the presence of severe back pain even if the distal pulsations were felt. PMID:25866688

  18. Cerebellar Hypoplasia

    MedlinePlus

    ... disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or ...

  19. Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.

    PubMed

    Roca, Bernardino; Roca, Manuel; Monferrer, Raquel

    2016-03-01

    Alkaptonuria, or ochronosis, a rare autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in dark pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular complications are also typical of the disease. We report the case of a 78-year-old male who presented with impressive osteoarticular changes and aortic stenosis associated with alkaptonuria. PMID:27169295

  20. Unoperated abdominal aortic aneurysm: presentation and natural history.

    PubMed Central

    Walker, E. M.; Hopkinson, B. R.; Makin, G. S.

    1983-01-01

    The natural history of abdominal aortic aneurysm (AAA) is death from rupture unless the patient dies from another cause prior to rupture. Elective aortic grafting is the treatment of choice. Following rupture, emergency operation is the only treatment which will prolong the patient's survival. Controversy still exists as to the optimum management in poor risk patients and in those with a small aneurysm. This paper describes the presentation and natural history of 65 patients presenting with a ruptured abdominal aortic aneurysm who did not have an emergency operation, and a further 27 patients in whom the diagnosis of intact AAA was made who did not have an elective aortic replacement graft. The correct diagnosis was made at the time of admission in only 43 of the 65 patients with ruptured aneurysms. The diagnostic errors and appropriate investigations in cases of doubt are discussed. The mean time from admission to hospital to death was 8 hours. The reasons for not performing an elective operation in the 27 patients known to have AAA are given. Nine have subsequently died from rupture. There have been 7 deaths from other causes. PMID:6614767

  1. DOCK8 deficiency in a boy who presented with a giant aortic aneurysm between aortic root and iliac bifurcation.

    PubMed

    Patıroğlu, Türkan; Akar, Himmet Haluk; Doğan, Mehmet Sait; Üzüm, Kazım

    2016-06-01

    Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported. PMID:27372622

  2. Type A aortic dissection presenting with isolated paraplegia.

    PubMed

    Tsiouris, Athanasios; Morgan, Jeffrey A; Paone, Gaetano

    2012-12-01

    Acute type A thoracic aortic dissections most commonly present with sudden onset of severe chest and/or back pain. We summarize the case of a patient with an acute type A dissection who presented with acute, painless paraplegia caused by malperfusion of the artery of Adamkiewicz. Although an uncommon cause of acute paraplegia, type A dissections should be included in the differential diagnosis. PMID:23262048

  3. Thumb hypoplasia.

    PubMed

    Soldado, Francisco; Zlotolow, Dan A; Kozin, Scott H

    2013-07-01

    Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb. The decision of whether to reconstruct the existing thumb or to ablate the thumb and perform a pollicization of the index finger hinges primarily on the examination of trapeziometacarpal joint stability. Ultrasound imaging may play a role in decision making in borderline cases. The ultimate goal of surgical treatment is to provide a stable and functional thumb. PMID:23702392

  4. Unicuspid aortic valve presenting with cardiac arrest in an adolescent.

    PubMed

    Connelly, Tara; Kolcow, Walenty; Smyth, Yvonne; Veerasingham, David

    2015-01-01

    Unicuspid aortic valve (UAV) is a rare congenital anomaly typically affecting patients in their fourth and fifth decades and presenting with signs of heart failure. Our case is one of a previously asymptomatic teenage girl with a UAV, who presented with cardiac arrest and was successfully treated. Only two other similar cases have been reported in the literature, both were of slightly older male patients. Our case highlights the morbidity associated with the anomaly supporting the need for careful assessment of the valve in cases where UAV is suspected. PMID:26178230

  5. Giant Aortic Root Aneurysm Presenting as Acute Type A Aortic Dissection.

    PubMed

    Raz, Guy M; Stamou, Sotiris C

    2014-06-01

    A 49-year-old woman with four months of increasing episodic palpitations, chest pain, and shortness of breath presented to an outside clinic where a new 4/6 systolic ejection murmur was identified. A transthoracic echocardiogram revealed a large aortic root aneurysm. The patient underwent emergent repair of the dissected root aneurysm with a modified Bentall procedure utilizing a #19 St Jude Valsalva mechanical valve conduit. Postoperatively, she required a permanent pacemaker placement. Her echo showed ejection fraction improvement from a preoperative 25% to a postoperative 35%. She was discharged home on postoperative day 7. PMID:26798728

  6. Rare presentation of ruptured syphilitic aortic aneurysm with pseudoaneurysm.

    PubMed

    de Almeida Feitosa, Israel Nilton; Dantas Leite Figueiredo, Magda; de Sousa Belem, Lucia; Evelin Soares Filho, Antônio Wilon

    2015-11-01

    We report the interesting case of a rare form of presentation of rupture of the ascending aorta with formation of a pseudoaneurysm, diagnosed following the development of a large mass on the surface of the chest over a period of about eight months. Serological tests were positive for syphilis. Echocardiography and computed tomography angiography were essential to confirm the diagnosis and therapeutic management. Cardiovascular syphilis is a rare entity since the discovery of penicillin. Rupture of an aortic aneurysm with formation of a pseudoaneurysm is a potentially fatal complication. The postoperative period was uneventful and the patient was discharged from hospital within days of surgery. PMID:26481180

  7. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    PubMed

    Nishimura, G; Haga, Y; Aoki, K; Hasegawa, T

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. PMID:9880644

  8. Distal embolization as a presenting symptom of aortic aneurysms.

    PubMed

    Baxter, B T; McGee, G S; Flinn, W R; McCarthy, W J; Pearce, W H; Yao, J S

    1990-08-01

    The records of 302 patients who underwent abdominal aortic aneurysm (AAA) repair between 1985 and 1990 were reviewed. Two hundred and forty-eight patients (82%) were asymptomatic, while 32 patients (11%) had ruptured aneurysms. During this period, 15 patients (5%) presented with distal embolization as the first manifestation of their AAA. The preoperative embolic event resulted in limb-threatening ischemia in 3 patients, digital ischemia in 11, and calf myonecrosis in 1. CT scan was performed in 14 of 15 patients demonstrating irregular, heterogeneous thrombus within the AAA. Only two of the AAAs were larger than 5 cm. Angiography demonstrated occlusive lesions but was not diagnostic for AAA in seven patients and resulted in three episodes of embolization. AAA was repaired with a tube graft in 4 patients while a bifurcated graft was required in 11 patients for aneurysmal (in 4 patients) and occlusive disease (in 7 patients) of the iliac arteries. All cases employed a transperitoneal approach, systemic heparin, and distal occlusion prior to aortic clamping. Complications included three major (below-knee) and five minor amputations, developing or worsening renal failure in five patients (33%), and death in two (13%). In comparison, mortality was 5% for elective repair and 66% for rupture during this same period. CT scan was safer and more informative than angiography. The morbidity of patients with AAA presenting with emboli is comparable with rupture. The risk of embolization does not correlate with size and indicates the potentially dangerous nature of small AAAs. PMID:2200293

  9. Hybrid Treatment of Acute Abdominal Aortic Thrombosis Presenting with Paraplegia.

    PubMed

    Azzarone, Matteo; De Troia, Alessandro; Iazzolino, Luigi; Nabulsi, Bilal; Tecchio, Tiziano

    2016-05-01

    Acute thrombotic or embolic occlusion of the abdominal aorta is a rare vascular emergency associated with high morbidity and mortality rates. Classically, the clinical presentation is a severe peripheral ischemia with bilateral leg pain as the predominant feature. Aortic occlusion presenting as an isolated acute onset of paraplegia due to spinal cord ischemia is very rare and requires improved awareness to prevent adverse outcomes associated with delayed diagnosis. We report the case of a 54-year-old man who presented with sudden paraplegia due to the thrombotic occlusion of the infrarenal aorta involving the first segment of the common iliac arteries on both sides; emergent transperitoneal aorto iliac thrombectomy combined with the endovascular iliac kissing-stent technique were performed achieving perioperative complete regression of the symptoms. PMID:26968371

  10. An atypical presentation of chronic Stanford type A aortic dissection during pregnancy.

    PubMed

    Dong, Xiuhua; Lu, Jiakai; Cheng, Weiping; Wang, Chengbin

    2016-09-01

    Aortic dissection is a rare but devastating disease during pregnancy, usually presenting with sharp pains on the chest or back. We report a pregnant woman suffering from chronic Stanford type A aortic dissection presented with atypical symptoms without pain in the third trimester with markedly dilated aortic root and congestive heart failure, who received concomitant cesarean delivery and aortic repair with good maternal and fetal outcomes. Multidisciplinary approach and tight hemodynamic control are very important. More attention should be paid to those atypical symptoms so as to early identify this scarce but disastrous disease during pregnancy. PMID:27555189

  11. Focal dermal hypoplasia (Goltz syndrome).

    PubMed

    Riyaz, Najeeba; Riyaz, A; Chandran, Rajesh; Rakesh, S V

    2005-01-01

    A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation. PMID:16394441

  12. Transcatheter aortic valve implantation: past, present and future.

    PubMed

    Keshavarzi, Freidoon; MacCarthy, Philip

    2016-03-01

    Transcatheter aortic valve implantation is one of the most significant technological advances in cardiovascular medicine. It offers a safe alternative in high risk cardiac patients with proven durability, economical viability and survival advantage. Current trials may expand its application in intermediate or low risk groups. PMID:26961440

  13. Maternal anticonvulsants and optic nerve hypoplasia.

    PubMed Central

    Hoyt, C. S.; Billson, F. A.

    1978-01-01

    Seven patients with optic nerve hypoplasia, born of epileptic mothers, are presented. All the mothers took anticonvulsants during pregnancy. The possibility that maternal anticonvulsant therapy may play a role in the genesis of optic nerve hypoplasia is discussed in the light of what is known about the teratogenicity of these agents. Images PMID:415754

  14. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

    PubMed

    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features. PMID:24217815

  15. Right Liver Lobe Hypoplasia and Related Abnormalities

    PubMed Central

    Alicioglu, Banu

    2015-01-01

    Summary Background Hypoplasia and agenesis of the liver lobe is a rare abnormality. It is associated with biliary system abnormalities, high location of the right kidney, and right colon interposition. These patients are prone to gallstones, portal hypertension and possible surgical complications because of anatomical disturbance. Case Report Magnetic resonance imaging features of a rare case of hypoplasia of the right lobe of the liver in a sigmoid cancer patient are presented. Conclusions Hypoplasia of the right liver should not be confused with liver atrophy; indeed, associations with other coexistent abnormalities are also possible. Awareness and familiarity with these anomalies are necessary to avoid fatal surgical and interventional complications. PMID:26634012

  16. Aortic dissection presenting as acute subtotal left main coronary artery occlusion: a case approach and review of the literature.

    PubMed

    Ruisi, Michael; Fallahi, Arzhang; Lala, Moinakhtar; Kanei, Yumiko

    2015-05-01

    Aortic dissection is the most common fatal condition of the aorta, yet it is often missed on initial clinical presentation. Aortic dissection associated with acute coronary syndrome (ACS) is relatively rare, but if it occurs, it can be diagnostically challenging, and the condition can be fatal. Here we describe a case of aortic dissection presenting as ST-segment elevation myocardial infarction (STEMI) managed via the transradial approach. We describe the current literature on the subject. PMID:25780485

  17. Aortic Dissection Presenting as Acute Subtotal Left Main Coronary Artery Occlusion: A Case Approach and Review of the Literature

    PubMed Central

    Ruisi, Michael; Fallahi, Arzhang; Lala, Moinakhtar; Kanei, Yumiko

    2015-01-01

    Aortic dissection is the most common fatal condition of the aorta, yet it is often missed on initial clinical presentation. Aortic dissection associated with acute coronary syndrome (ACS) is relatively rare, but if it occurs, it can be diagnostically challenging, and the condition can be fatal. Here we describe a case of aortic dissection presenting as ST-segment elevation myocardial infarction (STEMI) managed via the transradial approach. We describe the current literature on the subject. PMID:25780485

  18. Syphilitic aortic aneurysm with spastic paraparesis: a novel presentation and review of the literature.

    PubMed

    Gugssa, Seid Ali; Johnston, James C

    2012-12-15

    Syphilitic aortic aneurismal erosion into the vertebral column with associated neurological dysfunction is extraordinarily rare, and the very few reported cases typically involve the descending aorta. We describe the novel presentation of a 55 year old man with a syphilitic aneurysm of the ascending aorta and arch causing spinal erosion with spastic paraparesis. Clinicians must remain cognizant that the resurgence of primary and secondary syphilis, exacerbated by the unrelenting HIV-AIDS epidemic, portends an increasing incidence of tertiary manifestations such as aortic aneurysm formation with its myriad complications including compressive myelopathy. PMID:22925534

  19. Acute contained ruptured aortic aneurysm presenting as left vocal fold immobility.

    PubMed

    Gnagi, Sharon H; Howard, Brittany E; Hoxworth, Joseph M; Lott, David G

    2015-01-01

    Objective. To recognize intrathoracic abnormalities, including expansion or rupture of aortic aneurysms, as a source of acute onset vocal fold immobility. Methods. A case report and review of the literature. Results. An 85-year-old female with prior history of an aortic aneurysm presented to a tertiary care facility with sudden onset hoarseness. On laryngoscopy, the left vocal fold was immobile in the paramedian position. A CT scan obtained that day revealed a new, large hematoma surrounding the upper descending aortic stent graft consistent with an acute contained ruptured aortic aneurysm. She was referred to the emergency department for evaluation and treatment by vascular surgery. She was counseled regarding surgical options and ultimately decided not to pursue further treatment. Her vocal fold immobility was subsequently treated via office-based injection medialization two weeks after presentation and again 5 months after the initial injection which dramatically improved her voice. Follow-up CT scan at 8 months demonstrated a reduction of the hematoma. The left vocal cord remains immobile to date. Conclusion. Ortner's syndrome, or cardiovocal syndrome, is hoarseness secondary to left recurrent laryngeal nerve palsy caused by cardiovascular pathology. It is a rare condition and, while typically presenting gradually, may also present with acute symptomatology. PMID:25648215

  20. Syphilitic Aortic Aneurysm in a Young HIV-Infected Man: Case Presentation.

    PubMed

    Cataño, Juan Carlos; Ramirez, Isabel Cristina

    2011-01-01

    We describe the case of a young HIV-positive man who presented to the emergency room in hypovolemic shock. During subsequent evaluation, we documented a huge aortic aneurysm consistent with tertiary syphilis. The final autopsy demonstrated the extent of cardiovascular compromise caused by this aneurysm. PMID:22567481

  1. Optic nerve hypoplasia.

    PubMed

    Kaur, Savleen; Jain, Sparshi; Sodhi, Harsimrat B S; Rastogi, Anju; Kamlesh

    2013-05-01

    Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65%) than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED). PMID:24082663

  2. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

    PubMed Central

    Moerman, P; Goddeeris, P; Lauwerijns, J; Van der Hauwaert, L G

    1980-01-01

    Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot. Images PMID:7426208

  3. Ruptured Pneumococcal Aortic Aneurysm Presenting as ST-Elevation Myocardial Infarction

    PubMed Central

    Guo, Xiaoyue Mona; Bonde, Pramod

    2015-01-01

    Ruptured mycotic aneurysms occur infrequently in current clinical practice, and a pneumococcal etiology is even more rare. This case report describes a patient who initially presented with catheter lab activation for an acute ST-elevation myocardial infarction, receiving a full Plavix load. She was subsequently found to have a ruptured aortic aneurysm and underwent emergency surgical repair, with intraoperative findings of an aorta seeded with Streptococcus pneumonia. A retrospective evaluation of her history revealed clues of a previous upper respiratory infection and long-standing back pain. The subsequent literature review summarizes presentations and outcomes in previously reported, ruptured pneumococcal aneurysms and describes the relatively common occurrence of aortic conditions masquerading as acute myocardial infarctions. We provide recommendations to help approach similar situations in the future. PMID:26798754

  4. Fortune or misfortune: asymptomatic, delayed presentation of complete dehiscence of mechanical aortic valve conduit and pseudoaneurysm.

    PubMed

    Oh, Kyung Taek; Derose, Joseph; Taub, Cynthia

    2016-01-01

    Complete dehiscence of a composite aortic valve graft with pseudoaneurysm formation is a rare complication following aortic root replacement. This complication often takes place in the setting of acute graft infection and accompanies symptoms of heart failure, valve insufficiency or sepsis. We present a delayed, asymptomatic presentation of this complication in a young man with distant history of aortic root replacement and medically treated prosthetic valve endocarditis a year postoperatively. He had been non-adherent to warfarin over 10 years, but otherwise maintained a healthy life. After being lost to follow-up, he re-presented 12 years after the initial operation with new-onset seizures. Echocardiogram revealed complete dehiscence of a composite valved conduit at the proximal anastomosis site with a resultant large pseudoaneurysm. The patient underwent an urgent re-operation with resection of the pseudoaneurysm and insertion of a tissue valved conduit. He had an uncomplicated postoperative recovery and promised close follow-up on discharge. PMID:27530875

  5. [Evaluation after 20 years of a case of Takayasu's disease that presented with aortic regurgitation].

    PubMed

    Pierre, B; Machet, M C; Marchand, M; Alison, D; Casset-Senon, D; Fauchier, L; Charniot, J C; Babuty, D; Cosnay, P

    2005-03-01

    Takayasu's disease is a segmental multifocal affection of medium and large arteries. The diagnosis is based on the association of stenotic and aneurismal lesions of the aorta and its branches secondary to an inflammatory infiltration of the media and adventitia. Cases of aortic regurgitation associated with aneurismal dilatation of the ascending aorta as the presenting features of Takayasu's disease, as in this case, are rare. Histological examination of the aortic wall may help establish the diagnosis by showing signs of aortitis. The other usual arterial lesions are sometimes missing at the initial phase of the disease. A late histological diagnosis may be difficult as the inflammatory lesions tend to be progressively replaced by fibrotic lesions or a banal atheroma. PMID:15816330

  6. Primary congenital pulmonary hypoplasia of a neonate.

    PubMed

    Hsu, Jui-Sheng; Lee, Yu-Sheng; Lin, Chin-Hsuan; Li, Fen-Yau; Jeng, Mei-Jy; Soong, Wen-Jue; Chen, Sue-Jen; Tang, Ren-Bin

    2012-02-01

    Pulmonary hypoplasia is a rare but usually lethal disease. We report a full-term male neonate who presented with respiratory failure immediately after birth. Chest X-ray revealed a small lung volume despite advanced ventilator support. Respiratory failure persisted and this baby died at 40.5 hours of age. The autopsy showed a lung-to-birth weight ratio of 0.69% and a radial alveoli count of 2.97. All this information confirmed the diagnosis of primary congenital pulmonary hypoplasia. PMID:22340744

  7. Familial Thoracic Aortic Aneurysm with Dissection Presenting as Flash Pulmonary Edema in a 26-Year-Old Man

    PubMed Central

    Omar, Sabry; Moore, Tyler; Payne, Drew; Momeni, Parastoo; Mulkey, Zachary; Nugent, Kenneth

    2014-01-01

    We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascending aorta. The patient underwent aortic dissection repair and three months later he returned to our hospital with new complaints of back pain. CT angiography showed a new aortic dissection extending from the left carotid artery through the bifurcation and into the iliac arteries. The patient underwent replacement of the aortic root, ascending aorta, total aortic arch, and aortic valve. The patient recovered well postoperatively. Genetic studies of the patient and his children revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1. This case report focuses on a patient with familial TAAD and discusses the associated genetic loci and available screening methods. It is important to recognize potential cases of familial TAAD and understand the available screening methods since early diagnosis allows appropriate management of risk factors and treatment when necessary. PMID:25104961

  8. Focal Dermal Hypoplasia: A Rare Case Report

    PubMed Central

    Srinivas, Sahana M; Hiremagalore, Ravi

    2015-01-01

    Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. PMID:25657436

  9. Focal dermal hypoplasia: a rare case report.

    PubMed

    Srinivas, Sahana M; Hiremagalore, Ravi

    2015-01-01

    Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. PMID:25657436

  10. Emergency endovascular aortic repair of a ruptured mycotic aorto-iliac aneurysm presenting with lumbar radiculopathy.

    PubMed

    Lee, Ting-Ying; Tsai, Chien-Sung; Tsai, Yi-Ting; Lin, Chih-Yuan; Lin, Yi-Chanag; Hsu, Po-Shun

    2014-01-01

    Ruptured abdominal aortic aneurysm is life-threatening without immediate management. The initial clinical presentation is non-specific and impending rupture is easily missed, especially without a CT scan. We present a case of a 56-year-old man with low-back pain and left lower-extremity numbness, which was diagnosed as a herniated intervertebral disc (HIVD) with left acute sciatica syndrome. He also complained of persistent fever and abdominal discomfort. Routine blood work-up revealed leukocytosis and decreasing haemoglobin levels. CT angiography (CTA) showed impending rupture of the left aorto-iliac aneurysm. We therefore performed endovascular aneurysm repair (EVAR). Blood culture revealed Salmonella enterica, for which he received antibiotics. No acute sciatica syndrome was present immediately after the EVAR. No EVAR-related complications were noted in the one-year CTA follow up. PMID:25000523

  11. Right Aortic Arch with Aplasia of the Left Brachiocephalic Trunk Presented as Systolic Blood Pressure Difference Between Upper Extremities

    PubMed Central

    Babińska, Anna; Wawrzynek, Wojciech; Kukawska-Sysio, Karolina; Skupiński, Jarosław; Nowak, Patrycja

    2016-01-01

    Summary Background The right aortic arch with mirror-image of branching arteries without coexisting congenital heart disease is a very rare anomaly. Case Report We report a case of the right-sided aortic arch with aplasia of the left brachiocephalic trunk in a 64-year-old women, presenting difference in systolic blood pressure between upper extremities. The history of the patient and angio-CT findings were described and visualized with images. Conclusions The knowledge of vascular variations is important for the clinical and therapeutic aspects. PMID:26966474

  12. Acute Aortic Syndromes and Thoracic Aortic Aneurysm

    PubMed Central

    Ramanath, Vijay S.; Oh, Jae K.; Sundt, Thoralf M.; Eagle, Kim A.

    2009-01-01

    Acute and chronic aortic diseases have been diagnosed and studied by physicians for centuries. Both the diagnosis and treatment of aortic diseases have been steadily improving over time, largely because of increased physician awareness and improvements in diagnostic modalities. This comprehensive review discusses the pathophysiology and risk factors, classification schemes, epidemiology, clinical presentations, diagnostic modalities, management options, and outcomes of various aortic conditions, including acute aortic dissection (and its variants intramural hematoma and penetrating aortic ulcers) and thoracic aortic aneurysms. Literature searches of the PubMed database were conducted using the following keywords: aortic dissection, intramural hematoma, aortic ulcer, and thoracic aortic aneurysm. Retrospective and prospective studies performed within the past 20 years were included in the review; however, most data are from the past 15 years. PMID:19411444

  13. Platypnea-orthodeoxia syndrome in patients presenting enlarged aortic root: case report and literature review

    PubMed Central

    Townsend, Raquel da Silva; Costa, Ana Lúcia Martins; Gib, Marcelo Cúrcio; Dexheimer Neto, Felippe Leopoldo

    2014-01-01

    We describe herein a case of a patient who, when in orthostatic positions, had severe hypoxemia and ventilatory dysfunction. Although the severity of symptoms required hospitalization in an intensive care setting, the initial tests only identified the presence of enlarged aortic root, which did not explain the condition. The association of these events with an unusual etiology, namely intracardiac shunt, characterized the diagnosis of platypnea-orthodeoxia syndrome. The literature review shows that, with advancing research methods, there was a progressive increase in the identification of this condition, and this association should be part of the differential diagnosis of dyspnea in patients with enlarged aortic root. PMID:25295827

  14. A Case Report on the Successful Treatment of Streptococcus pneumoniae-Induced Infectious Abdominal Aortic Aneurysm Initially Presenting with Meningitis

    PubMed Central

    Kawatani, Yohei; Nakamura, Yoshitsugu; Hayashi, Yujiro; Taneichi, Tetsuyoshi; Ito, Yujiro; Kurobe, Hirotsugu; Suda, Yuji; Hori, Takaki

    2015-01-01

    Infectious abdominal aortic aneurysms often present with abdominal and lower back pain, but prolonged fever may be the only symptom. Infectious abdominal aortic aneurysms initially presenting with meningitis are extremely rare; there are no reports of their successful treatment. Cases with Streptococcus pneumoniae as the causative bacteria are even rarer with a higher mortality rate than those caused by other bacteria. We present the case of a 65-year-old man with lower limb weakness and back pain. Examination revealed fever and neck stiffness. Cerebrospinal fluid showed leukocytosis and low glucose levels. The patient was diagnosed with meningitis and bacteremia caused by Streptococcus pneumoniae and treated with antibiotics. Fever, inflammatory response, and neurologic findings showed improvement. However, abdominal computed tomography revealed an aneurysm not present on admission. Antibiotics were continued, and a rifampicin soaked artificial vascular graft was implanted. Tissue cultures showed no bacteria, and histological findings indicated inflammation with high leukocyte levels. There were no postoperative complications or neurologic abnormalities. Physical examination, blood tests, and computed tomography confirmed there was no relapse over the following 13 months. This is the first reported case of survival of a patient with an infectious abdominal aortic aneurysm initially presenting with meningitis caused by Streptococcus pneumoniae. PMID:26779361

  15. Management of aortic graft infections - the present strategy and future perspectives.

    PubMed

    Treska, V; Certik, B; Molacek, J

    2016-01-01

    Aortic graft infections (AGI) are serious complications of open and endovascular types of surgery with an incidence rate of 0.6-3 %. AGI are associated with 30-60 % perioperative mortality and 40-60 % morbidity rate with limb amputation rates between 10 % and 40 %. The economic cost of AGI is substantial. At the time of aortic reconstruction, almost 90 % of patients have one or more predisposing factors for AGI. The diagnosis is based on clinical symptomatology, laboratory markers, microbial cultures, and imaging modalities. The general principle of surgical treatment lies in the removal of infected graft, debridement of infected periprosthetic tissues, and vascular reconstruction by in situ or extra-anatomic bypass with long-term antibiotic therapy. The conservative treatment is used only for selected patients with endograft infection. This review summarizes the current knowledge about the incidence, predisposing factors, etiology, diagnosis, treatment options, and prevention of aortic vascular graft and endograft infections. With the growing number of endovascular procedures we can expect more cases of infected aortic endografts in patients with severe comorbidities in the near future, where the recent radical surgical approach (graft excision, debridement, and new revascularization) cannot be used. Therefore the less invasive, sophisticated and individualized treatment strategies will have to be used in search of the best therapeutic approach to each specific patient (Fig. 4, Ref. 82). PMID:26925740

  16. A rare but potentially lethal case of tuberculous aortic aneurysm presenting with repeated attacks of abdominal pain.

    PubMed

    Hung, Yao-Min; Chang, Yun-Te; Wang, Jyh-Seng; Wang, Paul Yung-Pou; Wann, Shue-Ren

    2015-01-01

    Tuberculous aortic aneurysm is an extremely rare disease with a high mortality rate. The clinical features of this condition are highly variable, ranging from asymptomatic with or without constitutional symptoms, abdominal pain to frank rupture, bleeding and shock. We herein report the case of a 56-year-old man with a large tuberculous mycotic aneurysm in the abdominal aorta with an initial presentation of repeated attacks of abdominal pain lasting for several months. Due to the vague nature of the initial symptoms, tuberculous aortic aneurysms may take several months to diagnose. This case highlights the importance of having a high index of suspicion and providing timely surgery for this rare but potentially lethal disease. PMID:25948366

  17. Multiple ophthalmic anomalies and digital hypoplasia.

    PubMed

    Chemke, J; Oliver, M; Mallek, D; Kaveh, Z

    1978-03-01

    Multiple congenital eye and hand anomalies occurred in a young female born to normal but consanguineous parents. Both eyes were microphthalmic with severe corneal, iris lens pathology. Ultrasonography revealed multiple echos from the vitreous. The ocular findings are suggestive of retinal dysplasia. A skeletal dysplasia, presenting as distal phalangeal hypoplasia, was found in both hands. There was no history of intrauterine exposure to drugs. This appears to be a unique association of congenital malformations, without other systemic involvement. Diagnostic and genetic implications are discussed. PMID:97363

  18. Optic nerve hypoplasia in children.

    PubMed Central

    Zeki, S. M.; Dutton, G. N.

    1990-01-01

    Optic nerve hypoplasia (ONH) is characterised by a diminished number of optic nerve fibres in the optic nerve(s) and until recently was thought to be rare. It may be associated with a wide range of other congenital abnormalities. Its pathology, clinical features, and the conditions associated with it are reviewed. Neuroendocrine disorders should be actively sought in any infant or child with bilateral ONH. Early recognition of the disorder may in some cases be life saving. Images PMID:2191713

  19. Congenital Medial Meniscus Hypoplasia.

    PubMed

    Benedick, Alex; Shiraj, Sahar; Williams, James; Sundaram, Murali; Subhas, Naveen

    2016-05-01

    An 18-year-old man with no prior surgical history presented with left knee pain after sustaining a basketball injury and was diagnosed with transient patellar dislocation. Magnetic resonance imaging was ordered to further assess the extent of injury. PMID:27064776

  20. Imaging a boa constrictor--the incomplete double aortic arch syndrome.

    PubMed

    Narayan, Rajeev L; Kanwar, Anubhav; Jacobi, Adam; Sanz, Javier

    2012-11-01

    Incomplete double aortic arch is a rare anomaly resulting from atresia rather than complete involution in the distal left arch resulting in a non-patent fibrous cord between the left arch and descending thoracic aorta. This anatomic anomaly may cause symptomatic vascular rings, leading to stridor, wheezing, or dysphagia, requiring surgical transection of the fibrous cord. Herein, we describe an asymptomatic 59 year-old man presenting for contrast-enhanced CT angiography to assess cardiac anatomy prior to radiofrequency ablation, who was incidentally found to have an incomplete double aortic arch with hypoplasia of the left arch segment and an aortic diverticulum. Recognition of this abnormality by imaging is important to inform both corrective surgery in symptomatic patients, as well as assist in the planning of percutaneous coronary and vascular interventions. PMID:22542042

  1. Endovascular stent graft repair for thoracic aortic aneurysms: the history and the present in Japan.

    PubMed

    Kawaguchi, Satoshi; Shimizu, Hideyuki; Yoshitake, Akihiro; Shimazaki, Taro; Iwahashi, Toru; Ogino, Hitoshi; Ishimaru, Shin; Shigematsu, Hiroshi; Yozu, Ryohei

    2013-01-01

    Stent-grafts for endovascular repair of thoracic aortic aneurysms have been commercially available for more than ten years in the West, whereas, in Japan, a manufactured stent-graft was not approved for the use until March 2008. Nevertheless, endovascular thoracic intervention began to be performed in Japan in the early 1990s, with homemade devices used in most cases. Many researchers have continued to develop their homemade devices. We have participated in joint design and assessment efforts with a stent-graft manufacturer, focusing primarily on fenestrated stent-grafts used in repairs at the distal arch, a site especially prone to aneurysm. In March 2008, TAG (W.L. Gore & Associates, Inc., Flagstaff, Arizona, USA) was approved as a stent graft for the thoracic area first in Japan, which was major turning point in treatment for thoracic aortic aneurysms. Subsequently, TALENT (Medtronic, Inc., Minneapolis, Minnesota, USA) was approved in May 2009, and TX2 (COOK MEDICAL Inc., Bloomington, Indiana, USA) in March 2011. Valiant as an improved version of TALENT was approved in November 2011, and TX2 Proform as an improved version of TX2 began to be supplied in October 2012. These stent grafts are excellent devices that showed good results in Western countries, and marked effectiveness can be expected by making the most of the characteristics of each device. A clinical trial in Japan on Najuta (tentative name) (Kawasumi Labo., Inc., Tokyo, Japan) as a line-up of fenestrated stent grafts that can be applied to distal arch aneurysms showing a high incidence, and allow maintenance of blood flow to the arch vessel was initiated. This trial was completed, and Najuta has just been approved in January of 2013 in Japan, and further development is expected. In the U.S., great efforts have recently been made to develop and manufacture excellent stent grafts for thoracic aneurysms, and rapid progress has been achieved. In particular, in the area of the aortic arch, in which we

  2. Idiopathic left ventricular apical hypoplasia.

    PubMed

    Raza, Ali; Waleed, Mohammad; Balerdi, Matthew; Bragadeesh, Thanjavur; Clark, Andrew L

    2014-01-01

    A 46-year-old man was found to have an abnormal ECG taken during a routine health and blood pressure check. His only symptom was non-specific central chest discomfort, unrelated to exertion. His ECG showed sinus rhythm, a normal axis and poor R wave progression across the chest leads and lateral T wave flattening. An echocardiogram showed a dilated left ventricle with a thin and hypokinetic septum bulging to the right. The apex was 'not well seen' but also appeared thin and hypokinetic. The right heart and valves were normal. The patient was further investigated for left ventricular hypoplasia. PMID:24585345

  3. Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

    PubMed

    Drachtman, R; Weinblatt, M; Sitarz, A; Gold, A; Kochen, J

    1990-10-01

    Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions. PMID:2264478

  4. Conservative Management of Chronic Aortic Dissection with Underlying Aortic Aneurysm

    PubMed Central

    Yusuf Beebeejaun, Mohammad; Malec, Aleksandra; Gupta, Ravi

    2013-01-01

    Aortic dissection is one of the most common aortic emergencies affecting around 2000 Americans each year. It usually presents in the acute state but in a small percentage of patients aortic dissections go unnoticed and these patients survive without any adequate therapy. With recent advances in medical care and diagnostic technologies, aortic dissection can be successfully managed through surgical or medical options, consequently increasing the related survival rate. However, little is known about the optimal long-term management of patients suffering from chronic aortic dissection. The purpose of the present report is to review aortic dissection, namely its pathology and the current diagnostic tools available, and to discuss the management options for chronic aortic dissection. We report a patient in which chronic aortic dissection presented with recurring episodes of vomiting and also discuss the management plan of our patient who had a chronic aortic dissection as well as an underlying aortic aneurysm. PMID:24179638

  5. Left ventricular dysfunction in the fetus: relation to aortic valve anomalies and endocardial fibroelastosis.

    PubMed Central

    Sharland, G K; Chita, S K; Fagg, N L; Anderson, R H; Tynan, M; Cook, A C; Allan, L D

    1991-01-01

    OBJECTIVE--To examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. DESIGN--A retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. SETTING--Tertiary referral centre for fetal echocardiography. PATIENTS--Thirty fetuses showing a characteristic echocardiographic picture of left ventricular dysfunction. MAIN OUTCOME MEASURES--The relation between the prenatal echocardiographic features and the postnatal and necropsy findings. RESULTS--At presentation the size of the left ventricular cavity was normal or enlarged in all cases. The measurements of the orifice of the aortic root and mitral valve were either normal or small for the gestational age. The echocardiographic diagnosis made at presentation was critical aortic stenosis in all cases. At necropsy or postnatal examination the aortic valve was dysplastic and stenotic in 15 cases and the left ventricle had become hypoplastic in one of these. Aortic atresia was present in seven patients, three of whom had a hypoplastic left ventricle. In six patients the aortic valve was bicuspid although not obstructive. One of these patients had hypoplasia of the aortic arch and one had a hypoplastic left ventricle but in the remaining four patients endocardial fibroelastosis of the left ventricle was the only abnormality found. No follow up information was available in two. Of 26 patients for whom there was postmortem information, 24 had evidence of some degree of endocardial fibroelastosis of the left ventricle. Sequential observations showed that five cases developed into the hypoplastic left heart syndrome. CONCLUSIONS--This type of left ventricular dysfunction in the fetus is the result of an overlap of diseases, including primary left ventricular endocardial fibroelastosis, critical aortic stenosis, and the hypoplastic

  6. Aortic insufficiency

    MedlinePlus

    ... Heart valve - aortic regurgitation; Valvular disease - aortic regurgitation; AI - aortic insufficiency ... BA. Valvular heart disease. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: ...

  7. Aortic Aneurysm

    MedlinePlus

    ... chest and abdomen. There are two types of aortic aneurysm: Thoracic aortic aneurysms - these occur in the part of the aorta running through the chest Abdominal aortic aneurysms - these occur in the part of the aorta ...

  8. Aortic Aneurysm

    MedlinePlus

    ... chest and abdomen. There are two types of aortic aneurysm: Thoracic aortic aneurysms (TAA) - these occur in the part of the aorta running through the chest Abdominal aortic aneurysms (AAA) - these occur in the part of the ...

  9. Aortic insufficiency

    MedlinePlus

    Aortic valve prolapse; Aortic regurgitation ... Any condition that prevents the aortic valve from closing completely can cause this problem. When the valve doesn't close all the way, a small amount of blood comes ...

  10. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

    PubMed

    Solanki, Shailesh; Babu, M Narendra; Gowrishankar; Ramesh, S

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  11. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  12. Acute aortic syndrome

    PubMed Central

    2016-01-01

    Acute aortic syndrome (AAS) is a term used to describe a constellation of life-threatening aortic diseases that have similar presentation, but appear to have distinct demographic, clinical, pathological and survival characteristics. Many believe that the three major entities that comprise AAS: aortic dissection (AD), intramural hematoma (IMH) and penetrating aortic ulcer (PAU), make up a spectrum of aortic disease in which one entity may evolve into or coexist with another. Much of the confusion in accurately classifying an AAS is that they present with similar symptoms: typically acute onset of severe chest or back pain, and may have similar radiographic features, since the disease entities all involve injury or disruption of the medial layer of the aortic wall. The accurate diagnosis of an AAS is often made at operation. This manuscript will attempt to clarify the similarities and differences between AD, IMH and PAU of the ascending aorta and describe the challenges in distinguishing them from one another. PMID:27386405

  13. Acute aortic syndrome.

    PubMed

    Corvera, Joel S

    2016-05-01

    Acute aortic syndrome (AAS) is a term used to describe a constellation of life-threatening aortic diseases that have similar presentation, but appear to have distinct demographic, clinical, pathological and survival characteristics. Many believe that the three major entities that comprise AAS: aortic dissection (AD), intramural hematoma (IMH) and penetrating aortic ulcer (PAU), make up a spectrum of aortic disease in which one entity may evolve into or coexist with another. Much of the confusion in accurately classifying an AAS is that they present with similar symptoms: typically acute onset of severe chest or back pain, and may have similar radiographic features, since the disease entities all involve injury or disruption of the medial layer of the aortic wall. The accurate diagnosis of an AAS is often made at operation. This manuscript will attempt to clarify the similarities and differences between AD, IMH and PAU of the ascending aorta and describe the challenges in distinguishing them from one another. PMID:27386405

  14. Aerococcus christensenii native aortic valve subacute bacterial endocarditis (SBE) presenting as culture negative endocarditis (CNE) mimicking marantic endocarditis.

    PubMed

    Jose, Anita; Cunha, Burke A; Klein, Natalie C; Schoch, Paul E

    2014-01-01

    This is a case report of an adult who presented with apparent culture negative endocarditis (CNE) thought to be marantic endocarditis due to a B-cell lymphoproliferative disorder. This was a most perplexing case and was eventually diagnosed as subacute bacterial endocarditis (SBE) due to a rare slow growing organism. Against the diagnosis of SBE was the lack of fever, hepatomegaly, peripheral manifestations and microscopic hematuria. Also, against a diagnosis of SBE was another explanation for the patient's abnormal findings, e.g., elevated ferritin levels, elevated α1/α2 globulins on SPEP, an elevated alkaline phosphatase, flow cytometry showing B-lymphocytes expressing CD5, and a bone lesion in the right iliac. Findings compatible with both SBE and marantic endocarditis due to a B-cell lymphoproliferative disorder included an elevated ESR, and splenomegaly. Blood cultures eventually became positive during hospitalization. We report a case of native aortic valve (AV) subacute bacterial endocarditis (SBE) due to Aerococcus christensenii mimicking marantic endocarditis due to a B-cell lymphoproliferative disorder. To the best of our knowledge, this is the first reported case of native AV SBE due to A. christensenii presenting as marantic endocarditis. PMID:24341951

  15. Juxtarenal aortic occlusion.

    PubMed Central

    Tapper, S S; Jenkins, J M; Edwards, W H; Mulherin, J L; Martin, R S; Edwards, W H

    1992-01-01

    The authors' experience with 113 aortic occlusions in 103 patients during a 26-year period (1965 to 1991) is reviewed. The authors found three distinct patterns of presentation: group I (n = 26) presented with acute aortic occlusion, group II (n = 66) presented with chronic aortic occlusion, and group III (n = 21) presented with complete occlusion of an aortic graft. Perioperative mortality rates were 31%, 9%, and 4.7% for each respective group and achieved statistical significance when comparing group I with group II (p = 0.009) and group I with group III (p = 0.015). Group I presented with profound metabolic insults due to acute ischemia and fared poorly. Group II presented with chronic claudication and did well long-term. Group III presented with acute ischemia but did well because of established collateral circulation. The treatment and expected outcome of aortic occlusion depends on the cause. PMID:1616381

  16. Aortic endothelium detection using spectral estimation optical coherence tomography (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Liu, Xinyu; Chen, Si; Luo, Yuemei; Bo, En; Wang, Nanshuo; Yu, Xiaojun; Liu, Linbo

    2016-02-01

    The evaluation of the endothelium coverage on the vessel wall is most wanted by cardiologists. Arterial endothelial cells play a crucial role in keeping low-density lipoprotein and leukocytes from entering into the intima. The damage of endothelial cells is considered as the first step of atherosclerosis development and the presence of endothelial cells is an indicator of arterial healing after stent implantation. Intravascular OCT (IVOCT) is the highest-resolution coronary imaging modality, but it is still limited by an axial resolution of 10-15 µm. This limitation in axial resolution hinders our ability to visualize cellular level details associated with coronary atherosclerosis. Spectral estimation optical coherence tomography (SE-OCT) uses modern spectral estimation techniques and may help reveal the microstructures underlying the resolution limit. In this presentation, we conduct an ex vivo study using SE-OCT to image the endothelium cells on the fresh swine aorta. We find that in OCT images with an axial resolution of 10 µm, we may gain the visibility of individual endothelium cells by applying the autoregressive spectral estimation techniques to enhance the axial resolution. We believe the SE-OCT can provide a potential to evaluate the coverage of endothelium cells using current IVOCT with a 10-µm axial resolution.

  17. Optic nerve hypoplasia, encephalopathy, and neurodevelopmental handicap.

    PubMed Central

    Burke, J P; O'Keefe, M; Bowell, R

    1991-01-01

    Abnormalities of the central nervous system are frequently described in optic nerve hypoplasia. In a longitudinal study of 46 consecutive children (32 term, 14 preterm) with bilateral optic nerve hypoplasia 32 (69.5%) had associated neurodevelopmental handicap. Of these, 90% had structural central nervous system abnormalities on computed tomographic brain scans. Neurodevelopmental handicap occurred in 62.5% of the term and 86% of the preterm infants respectively. Term infants had a greater incidence of ventral developmental midline defects and proportionately fewer maternal and/or neonatal complications throughout pregnancy, while encephaloclastic lesions were commoner among the premature infants. An association of optic nerve hypoplasia with the twin transfusion syndrome and prenatal vascular encephalopathies is described. PMID:2021594

  18. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia].

    PubMed

    Moser, U; Singer, G; Schmidt, B; Spendel, S

    2016-08-01

    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization. PMID:27580437

  19. Acute Type A Aortic Dissection Presenting as ST-Segment Elevation Myocardial Infarction Referred for Primary Percutaneous Coronary Intervention

    PubMed Central

    Wang, Jian-Liung; Chen, Chun-Chi; Wang, Chao-Yung Wang; Hsieh, Ming-Jer; Chang, Shang-Hung; Lee, Cheng-Hung; Chen, Dong-Yi; Hsieh, I-Chang

    2016-01-01

    Background When acute aortic dissection is complicated with acute myocardial infarction, the diagnosis of dissection can be problematic. In these cases, patients might be treated with primary percutaneous coronary intervention (PCI) and suffer acatastrophic outcome. However, there are few reports or algorithm to facilitate the accurate management of this clinical situation. Methods We evaluated 385 consecutive patients who underwent primary PCI arising from an initial diagnosis of STEMI at our hospitalbetween January 2006 and March 2011. Clinical characteristics, coronary angiographic findings, and outcomes were obtained from medical charts and databases. Results Five patients (1.3%) with STEMI secondary to aortic dissection were identified. All patients (100%) had sudden-onset of chest pain and a history of hypertension without diabetes or hyperlipidemia. An increased resistance while advancing the diagnostic catheter was reported by the operators in 3 of 5 patients (60%). Aortography performed by manual contrast-medium injection showed the discrepancy in the diameter between the aortic root and the ascending aorta in 4 patients (100%), and ascending aortic intimal flap dissections were noted in 3 patients (75%). Alternating appearance and disappearance of the coronary artery ostium was observed in 2 patients, and bedside echocardiography showed intimal flap extension inall 4 patients (100%) who underwent this examination. The mortality rate at 30days was 40%. Conclusions We construct an algorithm that incorporated factors including careful history evaluation, bedside echocardiography, resistance encountered while advancing a catheter, and findings of aortography performed with manual injection,which could b evaluable for this clinical situation.

  20. [Mid-aortic syndrome in 2-year old boy presenting with severe left ventricular dysfunction; report of a case].

    PubMed

    Muramatsu, Kouichi; Shinohara, Gen; Nomura, Koji

    2014-08-01

    Mid aortic syndrome is uncommon acquired or congenital condition characterized by segmental narrowing of the abdominal or distal descending thoracic aorta. If left untreated, it result in life threatening complications. We described the case of 2-year-old boy admitted to our hospital for hypertension and heart failure. Diagnosis of mid aortic syndrome was made with severe stenosis in distal descending aorta. With consideration of growth, we avoided bypass grafting and implantation with prothesic graft. For severe adhesion, we performed patch aortoplasty with 0.4 mm expanded polytetrafluoroethylene (ePTFE) patch. Postoperative course was unevetful. His blood pressure and left ventricular function was normalized. He was discharged on the 20st day after the surgery. PMID:25135414

  1. Isolated Left Ventricular Hypoplasia in a Postpartum Patient.

    PubMed

    Ding, Wern Yew; Meah, Mohammed; Rao, Archana; Fairbairn, Timothy; Hasleton, Jonathan

    2016-06-01

    A 22-year-old woman presented with lethargy and shortness of breath at 13 weeks postpartum. She was clinically tachypnoeic with signs of fluid overload. Telemetry revealed 2 different morphologies of nonsustained ventricular tachycardia, associated with chest discomfort. Cardiac imaging demonstrated a truncated, spherical left ventricle (LV) with severe systolic dysfunction and fatty replacement of the LV apex but no evidence of myocardial fibrosis. The right ventricle was elongated wrapping around the LV apex and had moderate systolic impairment. A diagnosis of "isolated LV apical hypoplasia" was made with possible concomitant peripartum cardiomyopathy. PMID:26706664

  2. Unusual Anatomic Variations Associated With Bilateral Ulnar Artery Hypoplasia.

    PubMed

    Ro, Hyung-Suk; Roh, Si-Gyun; Shin, Jin Yong; Lee, Nae-Ho; Yang, Kyung-Moo

    2016-05-01

    Variations and anomalies of upper extremities have been commonly reported in routine dissection, clinical practices, and cadaver studies. Despite ongoing research on arterial variations of upper extremities, the absence of bilateral ulnar artery is extremely rare with only 3 patients reported. As the authors are presenting a successfully treated patient, initially prepped for radial forearm osteocutaneous free flap for treatment on oromandibular defect after a wide resection of head and neck cancer lesion, being confirmed to have bilateral ulnar artery hypoplasia and due to this, the patient had to change her surgical plan to fibular osteocutaneous free flap. PMID:27100648

  3. Enamel hypoplasia: challenges of esthetic restorative treatment.

    PubMed

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia. PMID:27599287

  4. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

    PubMed Central

    2013-01-01

    Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. Results Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. Conclusions The study describes the clinical and

  5. Selective cerebro-myocardial perfusion in complex congenital aortic arch pathology: a novel technique.

    PubMed

    De Rita, Fabrizio; Lucchese, Gianluca; Barozzi, Luca; Menon, Tiziano; Faggian, Giuseppe; Mazzucco, Alessandro; Luciani, Giovanni Battista

    2011-11-01

    Simultaneous cerebro-myocardial perfusion has been described in neonatal and infant arch surgery, suggesting a reduction in cardiac morbidity. Here reported is a novel technique for selective cerebral perfusion combined with controlled and independent myocardial perfusion during surgery for complex or recurrent aortic arch lesions. From April 2008 to April 2011, 10 patients with arch pathology underwent surgery (two hypoplastic left heart syndrome [HLHS], four recurrent arch obstruction, two aortic arch hypoplasia + ventricular septal defect [VSD], one single ventricle + transposition of the great arteries + arch hypoplasia, one interrupted aortic arch type B + VSD). Median age was 63 days (6 days-36 years) and median weight 4.0 kg (1.6-52). Via midline sternotomy, an arterial cannula (6 or 8 Fr for infants) was directly inserted into the innominate artery or through a polytetrafluoroethylene (PTFE) graft (for neonates <2.0 kg). A cardioplegia delivery system was inserted into the aortic root. Under moderate hypothermia, ascending and descending aorta were cross-clamped, and "beating heart and brain" aortic arch repair was performed. Arch repair was composed of patch augmentation in five, end-to-side anastomosis in three, and replacement in two patients. Average cardiopulmonary bypass time was 163 ± 68 min (71-310). In two patients only (one HLHS, one complex single ventricle), a period of cardiac arrest was required to complete intracardiac repair. In such cases, antegrade blood cardioplegia was delivered directly via the same catheter used for selective myocardial perfusion. Average time of splanchnic ischemia during cerebro-myocardial perfusion was 39 ± 18 min (17-69). Weaning from cardiopulmonary bypass was achieved without inotropic support in three and with low dose in seven patients. One patient required veno-arterial extracorporeal membrane oxygenation. Four patients, body weight <3.0 kg, needed delayed sternal closure. No neurologic dysfunction was noted

  6. Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia.

    PubMed Central

    Zeki, S M; Dudgeon, J; Dutton, G N

    1991-01-01

    The ratio of disc to macula/disc diameter is characteristically increased in eyes with optic nerve hypoplasia. We present the largest reported series of patients with a definitive diagnosis of optic nerve hypoplasia for whom this ratio has been determined. All measurements were made by an independent masked observer. Our results are in accordance with previous reports. A ratio of 2.94 provides a one-tailed upper population limit of 95%. An attempt has been made to correlate optic disc size and visual acuity. In 75% of bilateral cases the eye with the relatively smaller optic disc was found to have a better Snellen visual acuity than the fellow eye. This suggests that additional pathogenic mechanism(s) may have determined the eventual visual outcome in such eyes. Such mechanisms include macular hypoplasia, high refractive error, refractive amblyopia, central scotoma, and optic atrophy. Images PMID:1911656

  7. Enamel hypoplasia and its role in identification of individuals: A review of literature.

    PubMed

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  8. Enamel hypoplasia and its role in identification of individuals: A review of literature

    PubMed Central

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K.

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  9. Abdominal aortic aneurysm.

    PubMed

    Keisler, Brian; Carter, Chuck

    2015-04-15

    Abdominal aortic aneurysm refers to abdominal aortic dilation of 3.0 cm or greater. The main risk factors are age older than 65 years, male sex, and smoking history. Other risk factors include a family history of abdominal aortic aneurysm, coronary artery disease, hypertension, peripheral artery disease, and previous myocardial infarction. Diagnosis may be made by physical examination, an incidental finding on imaging, or ultrasonography. The U.S. Preventive Services Task Force released updated recommendations for abdominal aortic aneurysm screening in 2014. Men 65 to 75 years of age with a history of smoking should undergo one-time screening with ultrasonography based on evidence that screening will improve abdominal aortic aneurysm-related mortality in this population. Men in this age group without a history of smoking may benefit if they have other risk factors (e.g., family history of abdominal aortic aneurysm, other vascular aneurysms, coronary artery disease). There is inconclusive evidence to recommend screening for abdominal aortic aneurysm in women 65 to 75 years of age with a smoking history. Women without a smoking history should not undergo screening because the harms likely outweigh the benefits. Persons who have a stable abdominal aortic aneurysm should undergo regular surveillance or operative intervention depending on aneurysm size. Surgical intervention by open or endovascular repair is the primary option and is typically reserved for aneurysms 5.5 cm in diameter or greater. There are limited options for medical treatment beyond risk factor modification. Ruptured abdominal aortic aneurysm is a medical emergency presenting with hypotension, shooting abdominal or back pain, and a pulsatile abdominal mass. It is associated with high prehospitalization mortality. Emergent surgical intervention is indicated for a rupture but has a high operative mortality rate. PMID:25884861

  10. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    PubMed

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-01-01

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth. PMID:26464410

  11. Segmental Aortic Stiffening Contributes to Experimental Abdominal Aortic Aneurysm Development

    PubMed Central

    Raaz, Uwe; Zöllner, Alexander M.; Schellinger, Isabel N.; Toh, Ryuji; Nakagami, Futoshi; Brandt, Moritz; Emrich, Fabian C.; Kayama, Yosuke; Eken, Suzanne; Adam, Matti; Maegdefessel, Lars; Hertel, Thomas; Deng, Alicia; Jagger, Ann; Buerke, Michael; Dalman, Ronald L.; Spin, Joshua M.; Kuhl, Ellen; Tsao, Philip S.

    2015-01-01

    Background Stiffening of the aortic wall is a phenomenon consistently observed in age and in abdominal aortic aneurysm (AAA). However, its role in AAA pathophysiology is largely undefined. Methods and Results Using an established murine elastase-induced AAA model, we demonstrate that segmental aortic stiffening (SAS) precedes aneurysm growth. Finite element analysis (FEA) reveals that early stiffening of the aneurysm-prone aortic segment leads to axial (longitudinal) wall stress generated by cyclic (systolic) tethering of adjacent, more compliant wall segments. Interventional stiffening of AAA-adjacent aortic segments (via external application of surgical adhesive) significantly reduces aneurysm growth. These changes correlate with reduced segmental stiffness of the AAA-prone aorta (due to equalized stiffness in adjacent segments), reduced axial wall stress, decreased production of reactive oxygen species (ROS), attenuated elastin breakdown, and decreased expression of inflammatory cytokines and macrophage infiltration, as well as attenuated apoptosis within the aortic wall. Cyclic pressurization of segmentally stiffened aortic segments ex vivo increases the expression of genes related to inflammation and extracellular matrix (ECM) remodeling. Finally, human ultrasound studies reveal that aging, a significant AAA risk factor, is accompanied by segmental infrarenal aortic stiffening. Conclusions The present study introduces the novel concept of segmental aortic stiffening (SAS) as an early pathomechanism generating aortic wall stress and triggering aneurysmal growth, thereby delineating potential underlying molecular mechanisms and therapeutic targets. In addition, monitoring SAS may aid the identification of patients at risk for AAA. PMID:25904646

  12. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    PubMed

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant. PMID:19665238

  13. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    PubMed

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal. PMID:15131104

  14. [Percutaneous transluminal angioplasty in aortic coarctation. The short- and median-term results].

    PubMed

    Ledesma Velasco, M; Acosta Valdes, J L; Munayer Calderón, J; Salgado Escobar, J L; Arias Monroy, L; Soberanis Torruco, C N

    1991-01-01

    Percutaneous transluminal angioplasty (PTA) was performed in 34 patients with aortic coarctation (Ao Co). One of them with coarctation after surgical correction, the rest were native Ao Co. We used one balloon in 28 patients and two balloons simultaneously in 6. They were separated in three groups according to the degree of aortic arc hypoplasia. Group I (mild to moderate hypoplasia N = 9) the gradient dropped 39% with angiographic improvement of 48% during the follow-up (m = 13.1 months). Three cases with restenosis, 2 were satisfactory dilated and one was sent to surgery. In Group II (severe hypoplasia N = 4) the gradient dropped 31% with angiographic improvement of 30% (follow-up 16.3 months). Two cases with recoarctation were sent to surgery. In Group III (without hypoplasia N = 21) we obtained dropped of gradient of 71% with angiographic improvement of 60% (follow-up 18.5 months). Two cases were redilated successfully. The complications were: cerebral hemorrhage with death due to hypertensive crisis, (1) cerebral embolism, (1) thrombosis in the puncture site 1 and small aneurysm in dilated zone. (1) We think PTA is a good choice to conventional surgery with low rate of morbidity-mortality. The results depend basically on the anatomic type of coarctation and degree of aortic arch hypoplasia. PMID:1828657

  15. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  16. Aortic dimensions in Turner syndrome.

    PubMed

    Quezada, Emilio; Lapidus, Jodi; Shaughnessy, Robin; Chen, Zunqiu; Silberbach, Michael

    2015-11-01

    In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc. PMID:26118429

  17. Aortic Aneurysm Statistics

    MedlinePlus

    ... Blood Pressure Salt Cholesterol Million Hearts® WISEWOMAN Aortic Aneurysm Fact Sheet Recommend on Facebook Tweet Share Compartir ... cause of most deaths from aortic aneurysms. Aortic Aneurysm in the United States Aortic aneurysms were the ...

  18. Abdominal Aortic Aneurysm (AAA)

    MedlinePlus

    ... Resources Professions Site Index A-Z Abdominal Aortic Aneurysm (AAA) Abdominal aortic aneurysm (AAA) occurs when atherosclerosis ... aortic aneurysm treated? What is an abdominal aortic aneurysm? The aorta, the largest artery in the body, ...

  19. Arterial Stiffness Alterations and Inflammatory Response Following Endovascular Aortic Repair: Based on a Presentation at the 2013 VEITH Symposium, November 19-23, 2013 (New York, NY, USA).

    PubMed

    Moulakakis, Konstantinos G; Mylonas, Spyridon N; Kakisis, John; Kadoglou, Nikolaos P E; Papadakis, Ioannis; Sfyroeras, George S; Antonopoulos, Constantine C N; Mantas, George; Ikonomidis, Ignatios; Liapis, Christos D

    2015-04-01

    Endovascular abdominal aortic aneurysm repair (EVAR) and thoracic aortic aneurysm repair (TEVAR) have been widely incorporated into clinical practice. However, changes in arterial stiffness and post-implantation syndrome after aortic endografting remain important issues under investigation. The aneurysm sac wall motion after successful EVAR and TEVAR reflects complex interactions between all the components of the excluded aneurysm, including true compliance of the aneurysm wall itself, intra-aneurysm sac pressure, remodeling of the thrombus, and mechanical characteristics of the endograft. Experimental and clinical studies have shown that aortic endografting results in increased arterial stiffness in animal models. It can be assumed that the alterations of aortic mechanical properties can have a direct impact on heart output. The long-term impact of these mechanical changes on cardiovascular outcomes and the potential effects of different endografts on hemodynamics are important issues under investigation. Post-implantation syndrome (PIS) is a systemic inflammatory response frequently observed after endovascular treatment of aortic pathologies. The main features of PIS include fever, leukocytosis, elevated C-reactive protein levels, and coagulation disturbances. Endograft design appears to influence this inflammatory response following aortic endografting; woven polyester endografts have been shown to be associated with greater inflammatory response compared to PTFE stent grafts. The purpose of this paper is to review the literature to elucidate arterial stiffness alterations and inflammatory response after EVAR and TEVAR and the impact of endograft design on aortic stiffness and the post-inflammatory response. PMID:26798761

  20. Traumatic aortic aneurysm diagnosed by computed tomography angiography in a 22-year-old man presenting with progressive dyspnea and dysphagia.

    PubMed

    Ma, Xiang; Ma, Yi-Tong; Liu, Ai-Hong; Wang, Yan-Lin

    2016-08-01

    Traumatic aortic aneurysm is a rare and potentially fatal complication that can occur secondary to acute chest trauma. However, early diagnosis of this complication is often neglected due to the presence of severe chest and abdominal trauma. We report a case of delayed traumatic aortic aneurysm that was diagnosed by computed tomography angiography on day 13 after a traffic accident. PMID:27209281

  1. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

    PubMed

    Santos, Silvana C; Pardono, Eliete; Ferreira da Costa, Maria Ione; de Melo, Aurea Nogueira; Graciani, Zodja; de Albuquerque e Souza, Alessandra Cavalcanti; Lezirovitz, Karina; Thiele-Aguiar, Renata Soares; Mingroni-Netto, Regina Célia; Opitz, John M; Kok, Fernando; Otto, Paulo A

    2008-12-15

    We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia. PMID:19012338

  2. Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia.

    PubMed

    Zenteno, J C; Canto, P; Kofman-Alfaro, S; Mendez, J P

    1999-10-01

    Leydig cell aplasia or hypoplasia is a rare form of male pseudohermaphroditism resulting from inadequate fetal testicular Leydig cell differentiation. Affected individuals presented a wide phenotypic spectrum, ranging from complete female external genitalia to males with micropenis. Recessive mutations in the LH receptor gene have been identified as responsible for the condition. The majority of these mutations are point mutations and have been located in exon 11 of the gene. In this study, we report the molecular characterization of the LH receptor gene in three siblings with Leydig cell hypoplasia. After sequencing the 11 exons of the gene, no deleterious mutations were detected in any patient. However, we identified a previously described polymorphism in exon 11. In patients 1 and 3 DNA sequencing revealed a C to T substitution at nucleotide 1065; both patients were homozygous GAT/GAT at codon 355. In contrast, patient 2 was homozygous GAC/GAC, whereas the father and one unaffected sister were heterozygous GAC/GAT at this polymorphic site. These results exclude that Leydig cell hypoplasia in this family is due to a mutation in the LH receptor gene and provide evidence that defects in other loci may also result in failure of Leydig cell differentiation, demonstrating, for the first time, that Leydig cell hypoplasia is a genetically heterogeneous condition. PMID:10523033

  3. Aortic stenting.

    PubMed

    Droc, Ionel; Calinescu, Francisca Blanca; Droc, Gabriela; Blaj, Catalin; Dammrau, Rolf

    2015-01-01

    The approach to aortic pathology is nowadays more and more endovascular at both thoracic and abdominal levels. Thoracic stenting has gained worldwide acceptance as first intention to treat pathologies of the descending thoracic aorta. Indications have been extended to aortic arch aneurysms and also to diseases of the ascending aorta. The current devices in use for thoracic endovascular repair (TEVAR) are Medtronic Valiant, Gore TAG, Cook Tx2 and Jotec. The choice of the endograft depends on the thoracic aortic pathology and the anatomical suitability. The technological evolution of the abdominal aortic endografts was very rapid, arriving now at the fourth generation. We report the results of 55 elective cases of endovascular abdominal aortic repair (EVAR) performed in two vascular surgical centers in Romania and Germany. The prostheses used were 16 E-vita Abdominal XT, 12 Excluder, eight Talent, seven PowerLink, three Endurant and nine custom-made, fenestrated or branched from Jotec. The mean follow-up was 18 months with CT-scan, duplex ultrasound and contrast-enhanced ultrasound. The mortality was 2%. EVAR tends to become the gold standard for abdominal aortic aneurysm repair. Technological development of the devices with lowest profile introduction systems will permit to extend the anatomical indications to new frontiers. PMID:26200430

  4. Aortic dissection.

    PubMed

    Nienaber, Christoph A; Clough, Rachel E; Sakalihasan, Natzi; Suzuki, Toru; Gibbs, Richard; Mussa, Firas; Jenkins, Michael T; Thompson, Matt M; Evangelista, Arturo; Yeh, James S M; Cheshire, Nicholas; Rosendahl, Ulrich; Pepper, John

    2016-01-01

    Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers of the aortic wall. Aortic dissection is most common in those 65-75 years of age, with an incidence of 35 cases per 100,000 people per year in this population. Other risk factors include hypertension, dyslipidaemia and genetic disorders that involve the connective tissue, such as Marfan syndrome. Swift diagnostic confirmation and adequate treatment are crucial in managing affected patients. Contemporary management is multidisciplinary and includes serial non-invasive imaging, biomarker testing and genetic risk profiling for aortopathy. The choice of approach for repairing or replacing the damaged region of the aorta depends on the severity and the location of the dissection and the risks of complication from surgery. Open surgical repair is most commonly used for dissections involving the ascending aorta and the aortic arch, whereas minimally invasive endovascular intervention is appropriate for descending aorta dissections that are complicated by rupture, malperfusion, ongoing pain, hypotension or imaging features of high risk. Recent advances in the understanding of the underlying pathophysiology of aortic dissection have led to more patients being considered at substantial risk of complications and, therefore, in need of endovascular intervention rather than only medical or surgical intervention. PMID:27440162

  5. Unilateral optical nerve hypoplasia in a Beagle dog.

    PubMed

    Negishi, H; Hoshiya, T; Tsuda, Y; Doi, K; Kanemaki, N

    2008-07-01

    Unilateral (left eye) optic nerve hypoplasia was detected in a six-month-old male Beagle dog. Vision testing indicated that the left eye had poor vision and testing the pupillary light reflex showed the left eye to have an absence of the afferent pathway of the reflex but it had a normal efferent pathway. Ophthalmoscopy revealed a small-sized optic disc, winding retinal artery and dilated retinal vasculature in the left globe. Electroretinography showed no abnormal findings even in the left globe. Histopathologically, the left optic nerve was markedly hypoplastic and was composed of sparse neural elements and a moderate amount of connective and glial tissues. In the retina of the left globe, the nerve fibre layer and the ganglion cell layer were reduced in thickness, although a small number of ganglion cells were still present. There were no abnormal findings detected in the right globe and the right optic nerve. The brain appeared normal macroscopically. PMID:18625594

  6. The syndrome of optic nerve hypoplasia.

    PubMed

    Borchert, Mark; Garcia-Filion, Pamela

    2008-09-01

    The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs in isolation. Most afflicted children will have hypothalamic dysfunction and/or neurodevelopmental impairment, regardless of MRI findings or severity of ONH. Adverse outcomes can often be ameliorated with early intervention. Thus, the syndrome of ONH should be suspected in all infants with signs of hypothalamic dysfunction or vision impairment. PMID:18713575

  7. Quadricuspid Aortic Valve: A Rare Congenital Cause of Aortic Insufficiency

    PubMed Central

    Vasudev, Rahul; Shah, Priyank; Bikkina, Mahesh; Shamoon, Fayez

    2016-01-01

    Quadricuspid aortic valve (QAV) is a rare congenital cardiac anomaly causing aortic regurgitation usually in the fifth to sixth decade of life. Earlier, the diagnosis was mostly during postmortem or intraoperative, but now with the advent of better imaging techniques such as transthoracic echocardiography, transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging, more cases are being diagnosed in asymptomatic patients. We present a case of a 39-year-old male who was found to have QAV, with the help of TEE, while undergoing evaluation for a diastolic murmur. The patient was found to have Type B QAV with moderate aortic regurgitation. We also present a brief review of classification, pathophysiology, and embryological basis of this rare congenital anomaly. The importance of diagnosing QAV lies in the fact that majority of these patients will require surgery for aortic regurgitation and close follow-up so that aortic valve replacement/repair is done before the left ventricular decompensation occurs. PMID:27195176

  8. Pontine hypoplasia in a child with sensorineural deafness.

    PubMed

    Maeoka, Y; Yamamoto, T; Ohtani, K; Takeshita, K

    1997-09-01

    A 2-year-old girl with bilateral sensorineural deafness showed pontine hypoplasia as well as a bulging contour of the pontine tegmentum on magnetic resonance imaging (MRI). There were no bilateral responses of brainstem auditory-evoked potentials (BAEPs). The absent late components of blink reflex (BR) indicated brainstem dysfunction. Chromosomal abnormalities and neurodegenerative or neurometabolic disorders, which might have been the cause of the pontine hypoplasia, were ruled out. The authors describe a rare case with pontine hypoplasia combined with sensorineural deafness and absent blink reflex and suggest that the brainstem in this child may become involved in the early gestation period. PMID:9339875

  9. Thoracic aortic aneurysms and pregnancy.

    PubMed

    Coulon, Capucine

    2015-11-01

    Half of acute aortic dissection in women under the age of 40 occurs during pregnancy or peripartum period. Marfan syndrome is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Turner syndrome also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Management of aortic root aneurysm has been established in recent recommendations, even if levels of evidence are weak. Pregnancy and postpartum period should be followed very closely and determined to be at high risk. Guidelines suggest that women with aortopathy should be counseled against the risk of pregnancy and about the heritable nature of the disease prior to pregnancy. PMID:26454306

  10. CT of nontraumatic thoracic aortic emergencies.

    PubMed

    Bhalla, Sanjeev; West, O Clark

    2005-10-01

    Computed tomography (CT), especially multidetector row CT (MDCT), is often the preferred imaging test used for evaluation of nontraumatic thoracic aortic abnormalities. Unenhanced images, usually followed by contrast-enhanced arterial imaging, allow for rapid detailed aortic assessment. Understanding the spectrum of acute thoracic aortic conditions which may present similarly (aortic dissection, aneurysm rupture, penetrating atherosclerotic ulcer, intramural hematoma) will ensure that patients are diagnosed and treated appropriately. Familiarity with imaging protocols and potential mimics will prevent confusion of normal anatomy and variants with aortic disease. PMID:16274000

  11. Hydatid cyst involving the aortic arch.

    PubMed

    Apaydin, Anil Z; Oguz, Emrah; Zoghi, Mehdi

    2007-03-01

    We report a very rare case of primary mediastinal hydatid cyst which invaded the ascending aorta and the aortic arch which initially presented as a cranial mass. Aortic wall is a very unusual site for the hydatid cysts. To the best of our knowledge, this is the first reported case of hydatid cyst located within the aortic arch lumen. Patient underwent ascending aortic and hemiarch replacement under hypothermic circulatory arrest and removal of the cyst. Patient had an uneventful recovery and has been on follow-up. Although the literature data are very limited, we believe that the aortic procedure of choice should be graft interpositon rather than patch repair. PMID:17215134

  12. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    PubMed

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed. PMID:7785727

  13. Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

    PubMed

    Franzese, Adriana; Brunetti-Pierri, Nicola; Spagnuolo, Maria Immacolata; Spadaro, Raffaella; Giugliano, Michela; Mukai, Tokuo; Valerio, Giuliana

    2005-05-15

    Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far. PMID:15800903

  14. Cerebellar hypoplasia of genetic origin in calves.

    PubMed

    O'Sullivan, B M; McPhee, C P

    1975-10-01

    Within 2 years, following the introduction of 2 Shorthorn bulls from the same stud into an Australian Illawarra Shorthorn (AIS) herd, 16 calves were born with cerebellar hypoplasia. All affected calves were the progeny of one bull mated to the daughters of the other. All other progeny of these bulls, most of which were from AIS dams, were normal. Affected calves exhibited severe ataxia, consistent head movement and abduction of the forelimbs. Microscopic changes in the cerebellum included sparsity of cells of the granular layer, loss of Purkinje cells and narrowing of the molecular layer. Observations on the frequencies of normal and abnormal calves are consistent with the hypothesis that the condition is caused by an autosomal recessive gene for which affected calves were homozygous and which was introduced into the herd in heterozygous condition by both of the Shorthorn bulls. Evidence is given for an unusually high frequency of the gene in the stud of origin of the Shorthorn bulls and a procedure for reducing its frequency is outlined. The possibility of a viral or toxic aetiology is discussed but is considered to be an unlikely explanation for the condition in this herd. PMID:1200928

  15. [Evaluation of the diagnostic usefulness for ultrasonographic and echocardiographic lethal markers in fetal pulmonary hypoplasia. Analysis of 11 cases].

    PubMed

    Kieszek, S; Kaczmarek, P; Czichos, E; Respondek, M

    1996-07-01

    Results of ultrasonographic and echocardiographic studies of 11 fetuses were analysed retrospectively in relation to their pulmonary hypoplasia. Congenital malformations, quality of hydramnios and echocardiographical measurements of fetal chest were estimated. The best symptoms of pulmonary hypoplasia were: oligo/ahydramnios, absence of fetal breathing movements and malformations in fetal chest cavity (diaphragmatic hernia, cardiomegaly, hydrothorax). Systemic malformations were present in each case. The measurements such as CC, CA, HA, (CA-HA) x 100/CA were not accurate enough and we did not find any statistical differences between the control and the studied group. Finding several factors predisposing to lung hypoplasia means that its lethal form may be present in fetus. PMID:9138996

  16. Quadricuspid aortic valve with ruptured sinus of Valsalva.

    PubMed

    Akerem Khan, Shamruz Khan; Tamin, Syahidah Syed; Burkhart, Harold M; Araoz, Philip A; Young, Phillip M

    2013-02-01

    We present a case of a 24-year-old woman who was diagnosed with quadricuspid aortic valve with ruptured sinus of Valsalva. Quadricuspid aortic valve is a rare congenital cardiac anomaly. The recognition of quadricuspid aortic valve has clinical significance as it causes aortic valve dysfunction, and is often associated with other congenital cardiac abnormalities. We showed the important role of multimodality imaging in diagnosing a quadricuspid aortic valve associated with ruptured sinus of Valsalva. PMID:22874066

  17. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

    PubMed

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony

    2013-12-01

    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging. PMID:24047924

  18. Combination esthetic treatment of anterior teeth affected by idiopathic enamel hypoplasia: a case report.

    PubMed

    Roberts, Donald L; Warner, Ben F; Bentley, Dan A; Quock, Ryan L

    2016-01-01

    The esthetic management of enamel dysplasia presents an opportunity for the practitioner to integrate expertise in diagnosis, biomaterials, and technique. In addition to considerations of appearance, careful attention must be paid to occlusal function and restorative material properties. This case report highlights a combined approach of conservative lithium disilicate indirect restorations and composite resin direct veneers to electively restore the anterior teeth of a patient diagnosed with idiopathic enamel hypoplasia. PMID:27148656

  19. Does an expanding fetal abdominal mass produce pulmonary hypoplasia?

    PubMed

    Sauer, L; Harrison, M R; Flake, A W; Krummel, T R

    1987-06-01

    Fetal pulmonary hypoplasia has been related to multiple factors. In an effort to define which fetuses may benefit from prenatal intervention to prevent or reverse pulmonary hypoplasia, we studied the relative contribution of an enlarging abdominal mass in the fetus. We produced abdominal masses in fetal rabbits at 24 days gestation by two methods. In one group, a small cylindrical chip of Takasen, (a synthetic polymer that expands to 50 times its size in 1 week; Grobeast, Pop Art Co, Cleveland, OH) was inserted into the peritoneal cavity of the fetal rabbit; in another group, the bladder neck was obstructed with a surgical clip. Amniotic fluid volume was restored at the surgical procedure. Sham-operated littermates served as controls. At cesarean delivery on day 30, fetal lung, liver, and body weights were measured, and the abdominal masses were quantitated by volume displacement of the removed mass or bladder. In both groups large abdominal masses of comparable size were produced. Newborns with the synthetic abdominal mass did not have significant pulmonary hypoplasia, but often had a prune belly deformity of the abdominal wall, whereas newborns with bladder obstruction had significant pulmonary hypoplasia. Liver weight was not significantly affected. We conclude that a fetal abdominal mass does not independently produce pulmonary hypoplasia, possibly because the "mass effect" is relieved by distension of the abdominal wall rather than elevation of the diaphragm; the pulmonary hypoplasia that occurs in bladder outlet obstruction is probably due to the associated oligohydramnios rather than the mass effect of the dilated urinary tract; and prenatal decompression of an abdominal mass or dilated urinary tract is not justified to prevent pulmonary hypoplasia in the absence of oligohydramnios. PMID:3612441

  20. A Case of Superior Mesenteric Artery Aneurysm Mimicking an Abdominal Aortic Aneurysm and Presenting as a Pulsating Abdominal Mass

    PubMed Central

    Choi, Sang Tae; Kim, Keon Kuk; Kang, Jin Mo

    2016-01-01

    A 62-year-old male with a smoking history of 30 pack-years presented with a 1-year history of a periumbilical pulsating mass. He had been treated for hypertension for 2 years. Physical examination revealed a huge pulsating mass in the periumbilical abdomen. Femoral and popliteal arterial pulses were palpable. Computed tomography showed arterial dissection in the proximal segment of the superior mesenteric artery, a huge aneurysm (52×50 mm) with mural thrombus and two smaller aneurysms (20×20 mm) in the right ileocolic and ileal branches, along with atherosclerotic changes. Interposition using the great saphenous vein was performed after aneurysmal isolation and ligation of jejunal branches in the sac. Distal flow was reestablished by end-to-end and end-to-side anastomoses of the right ileocolic and ileal branches, respectively. No complications were observed at 1-year follow-up. PMID:27051659

  1. Aortic Valve Disease

    MedlinePlus

    ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Aortic Valve Disease Overview The human heart has ...

  2. Thoracic aortic aneurysm

    MedlinePlus

    Aortic aneurysm - thoracic; Syphilitic aneurysm; Aneurysm - thoracic aortic ... The most common cause of a thoracic aortic aneurysm is hardening of the ... with high cholesterol, long-term high blood pressure, or who ...

  3. The pathogenesis of renal dysplasia. I. Quantification of hypoplasia and dysplasia.

    PubMed

    Schwarz, R D; Stephens, F D; Cussen, L J

    1981-09-01

    In order to assess the relative effects of abnormal ureteric orifice position and abnormal urodynamics on the morphogenesis of hypoplasia and dysplasia in kidneys obtained from infants, we devised a method of quantifying the renal structures. The method was based on radial glomerular counts which ranged from zero to normal (seven to nine), a score for dysplastic structures, and the ratio of normal to abnormal tissues present. These three values, when plotted against each other, correlated closely. The glomerular count, with occasional minor adjustment for inconsistencies, was the best parameter of hypodysplasia. Severe to moderate grades of hypodysplasias fell in the low and middle ranges and hypoplasia through to normal in the highest range. By grading kidneys in this way, we were able to compare the effects of ureteral ectopy and abnormal urinary dynamics on the developing kidney. PMID:7024184

  4. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

    PubMed Central

    Acers, T E

    1981-01-01

    Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome. Images FIGURE 2 FIGURE 3 a FIGURE 3 b FIGURE 4 a FIGURE 4 b FIGURE 4 c FIGURE 4 d PMID:7043865

  5. Increased enamel hypoplasia and very low birthweight infants.

    PubMed

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P

    2013-09-01

    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia. PMID:23857641

  6. Infant and perinatal pulmonary hypoplasia frequently associated with brainstem hypodevelopment.

    PubMed

    Ottaviani, Giulia; Mingrone, Rosaria; Lavezzi, Anna M; Matturri, Luigi

    2009-04-01

    Recent anatomo-pathological studies have revealed a frequent associated hypoplasia of both arcuate nucleus and lungs in stillbirths. The purpose of this study is to analyze the lung and brainstem development in sudden unexplained perinatal death and sudden infant death syndrome (SIDS). A total of 51 cases were investigated. A complete autopsy was performed in each case. Anatomo-pathologic examination of the central autonomic nervous system included an in-depth study on histological serial sections of the brains where the main structures participating in control of the vital functions are located. The stage of lung development was evaluated by macroscopic and microscopic criteria. In 52.9% of cases, a pulmonary hypoplasia was detected. The pulmonary hypoplasia was significantly more frequent in the SIDS group compared to the sudden perinatal unexplained death groups (p < 0.05). In 72.5% of cases, histological examination of the brainstem on serial sections showed hypodevelopment of the brainstem nuclei, particularly hypoplasia, of the arcuate nucleus (60.8%). In 47.1% of cases, pulmonary hypoplasia was associated with brainstem hypodevelopment. PMID:19288128

  7. Recurrent tamponade and aortic dissection in syphilis.

    PubMed

    Stansal, Audrey; Mirault, Tristan; Rossi, Aude; Dupin, Nicolas; Bruneval, Patrick; Bel, Alain; Azarine, Arshid; Minozzi, Catherine; Deman, Anne Laure; Messas, Emmanuel

    2013-11-01

    Syphilitic cardiovascular disease has been described since the 19th century, mainly on autopsy series. Major clinical manifestations are aortic aneurysm, aortic insufficiency, and coronary ostial stenosis. The diagnosis of syphilitic cardiovascular disease is based mainly on positive serologic tests and overt clinical manifestations. We present here a rare and unusual clinical presentation of a tertiary syphilis with recurrent tamponade and type B aortic dissection, whose positive diagnosis was made by polymerase chain reaction on pericardial fluid analysis. PMID:24182507

  8. MDCT evaluation of acute aortic syndrome (AAS).

    PubMed

    Valente, Tullio; Rossi, Giovanni; Lassandro, Francesco; Rea, Gaetano; Marino, Maurizio; Muto, Maurizio; Molino, Antonio; Scaglione, Mariano

    2016-05-01

    Non-traumatic acute thoracic aortic syndromes (AAS) describe a spectrum of life-threatening aortic pathologies with significant implications on diagnosis, therapy and management. There is a common pathway for the various manifestations of AAS that eventually leads to a breakdown of the aortic intima and media. Improvements in biology and health policy and diffusion of technology into the community resulted in an associated decrease in mortality and morbidity related to aortic therapeutic interventions. Hybrid procedures, branched and fenestrated endografts, and percutaneous aortic valves have emerged as potent and viable alternatives to traditional surgeries. In this context, current state-of-the art multidetector CT (MDCT) is actually the gold standard in the emergency setting because of its intrinsic diagnostic value. Management of acute aortic disease has changed with the increasing realization that endovascular therapies may offer distinct advantages in these situations. This article provides a summary of AAS, focusing especially on the MDCT technique, typical and atypical findings and common pitfalls of AAS, as well as recent concepts regarding the subtypes of AAS, consisting of aortic dissection, intramural haematoma, penetrating atherosclerotic ulcer and unstable aortic aneurysm or contained aortic rupture. MDCT findings will be related to pathophysiology, timing and management options to achieve a definite and timely diagnostic and therapeutic definition. In the present article, we review the aetiology, pathophysiology, clinical presentation, outcomes and therapeutic approaches to acute aortic syndromes. PMID:27033344

  9. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    PubMed Central

    Jha, Abhishek; Gupta, Prakhar; Haroon, Mohammad; Shah, Gaurav; Gupta, Gagan; Khalid, Mohd.

    2015-01-01

    The term “vertebrobasilar dolichoectasia” refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia. PMID:26167222

  10. Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection.

    PubMed

    Braverman, Alan C; Moon, Marc R; Geraghty, Patrick; Willing, Marcia; Bach, Christopher; Kouchoukos, Nicholas T

    2016-08-01

    Loeys-Dietz syndrome due to mutations in TGFBR1 and 2 is associated with early and aggressive aortic aneurysm and branch vessel disease. There are reports of uncomplicated pregnancy in this condition, but there is an increased risk of aortic dissection and uterine rupture. Women with underlying aortic root aneurysm are cautioned about the risk of pregnancy-related aortic dissection. Prophylactic aortic root replacement is recommended in women with aortopathy and aortic root dilatation to lessen the risk of pregnancy. There is limited information in the literature about the outcomes of pregnancy after root replacement in Loeys-Dietz syndrome. We present a case series of three women with Loeys-Dietz syndrome who underwent elective aortic root replacement for aneurysm disease and subsequently became pregnant and underwent Cesarean section delivery. Each of these women were treated with beta blockers throughout pregnancy. Surveillance echocardiograms and noncontrast MRA studies during pregnancy remained stable demonstrating no evidence for aortic enlargement. Despite the normal aortic imaging and careful observation, two of the three women suffered acute aortic dissection in the postpartum period. These cases highlight the high risk of pregnancy following aortic root replacement in Loeys-Dietz syndrome. Women with this disorder are recommended to be counseled accordingly. © 2016 Wiley Periodicals, Inc. PMID:27125181

  11. When and how to replace the aortic root in type A aortic dissection

    PubMed Central

    Leshnower, Bradley G.

    2016-01-01

    Management of aortic root pathology during repair of acute type A aortic dissection (TAAD) requires a comprehensive evaluation of the patient’s anatomy, demographics, comorbidities and physiologic status at the time of emergent operative intervention. Surgical options include conservative repair of the root (CRR) (with or without replacement of the aortic valve), replacement of the native valve and aortic root using a composite valve-conduit and valve sparing root replacement (VSRR). The primary objective of this review is to provide data for surgeons to aid in their decision-making process regarding management of the aortic root during repair of TAAD. No time or language restrictions were imposed and references of the selected studies were checked for additional relevant citations. Multiple retrospective reviews have demonstrated equivalent operative mortality between aortic root repair and replacement during TAAD. There is a higher incidence of aortic root reintervention with aortic root repair compared to aortic root replacement (ARR). Experienced, high-volume aortic centers have demonstrated the safety of VSRR in young, hemodynamically stable patients presenting with TAAD. In conclusion, aortic root repair can safely be performed in the vast majority of patients with TAAD. Despite the increased surgical complexity, ARR does not increase operative mortality and improves the freedom from root reintervention. VSRR can be performed in highly selected populations of patients with TAAD with durable mid-term valve function. PMID:27563551

  12. When and how to replace the aortic root in type A aortic dissection.

    PubMed

    Leshnower, Bradley G; Chen, Edward P

    2016-07-01

    Management of aortic root pathology during repair of acute type A aortic dissection (TAAD) requires a comprehensive evaluation of the patient's anatomy, demographics, comorbidities and physiologic status at the time of emergent operative intervention. Surgical options include conservative repair of the root (CRR) (with or without replacement of the aortic valve), replacement of the native valve and aortic root using a composite valve-conduit and valve sparing root replacement (VSRR). The primary objective of this review is to provide data for surgeons to aid in their decision-making process regarding management of the aortic root during repair of TAAD. No time or language restrictions were imposed and references of the selected studies were checked for additional relevant citations. Multiple retrospective reviews have demonstrated equivalent operative mortality between aortic root repair and replacement during TAAD. There is a higher incidence of aortic root reintervention with aortic root repair compared to aortic root replacement (ARR). Experienced, high-volume aortic centers have demonstrated the safety of VSRR in young, hemodynamically stable patients presenting with TAAD. In conclusion, aortic root repair can safely be performed in the vast majority of patients with TAAD. Despite the increased surgical complexity, ARR does not increase operative mortality and improves the freedom from root reintervention. VSRR can be performed in highly selected populations of patients with TAAD with durable mid-term valve function. PMID:27563551

  13. Type B Aortic Dissection with Abdominal Aortic Aneurysm Rupture 1 Year after Endovascular Repair of Abdominal Aortic Aneurysm.

    PubMed

    Daniel, Guillaume; Ben Ahmed, Sabrina; Warein, Edouard; Gallon, Arnaud; Rosset, Eugenio

    2016-05-01

    We report a patient who developed a type B aortic dissection and ruptured his aneurysmal sac 1 year after endovascular abdominal aortic aneurysm repair (EVAR), despite standard follow-up. This 79-year-old man was presented to emergency room with acute abdominal pain and an acute lower limb ischemia. Computed tomography scan showed an acute type B aortic dissection feeding the aneurysmal sac of the EVAR. The aneurysm rupture occurred during imaging. Type B aortic dissection is a rare cause of aneurysmal rupture after EVAR. The first postoperative computed tomography scan should maybe include the arch and the descending thoracic aorta to rule out an iatrogenic dissection after EVAR. PMID:26902937

  14. Aortic valve decalcification revisited.

    PubMed

    Marty, A T; Mufti, S; Murabit, I

    1989-11-01

    A 75-year-old woman with a small calcified aortic root, severe aortic stenosis and triple vessel coronary artery disease developed angina at rest. Aortic valve decalcification and quadruple aorto-coronary bypass were done as her aortic root was too small and calcified to do anything else. Postoperative clinical and hemodynamic results have been excellent. Literature review supports application of this therapy in selected patients with trileaflet senescent aortic stenosis. PMID:2614067

  15. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

    PubMed Central

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S

    2014-01-01

    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia. PMID:24045842

  16. [Aortic intramural hematoma. An atypical pattern equivalent to aortic dissection].

    PubMed

    López-Mínguez, J R; Merchán, A; Arrobas, J; Fernández, G; González-Egüaras, M; García-Andoaín, J M; Alonso, M; Gamero, C; Poblador, M A; Alonso, F

    1995-09-01

    A case is presented of a hypertensive woman who had suffered a stabbing back pain for some three hours, with mild irradiation to precordium and accompanied by vegetative signs. A sinusal rhythm and negative T waves of little depth were seen on the ECG. A transthoracic bidimensional echocardiogram (TTE) showed a normal left ventricle with a somewhat dilated aortic root and the existence of a double echo running parallel to the anterior wall of the aorta but non-ondulating and without a visible intimal flap. Because of suspected aortic dissection an urgent contrasted CAT and a transesophageal echocardiogram were performed. These were informed as an aneurysm of the aortic root with mural thrombus from the ascending to descending aorta, but with no existing intimal flap suggesting dissection. A cardiac catheterization showed a mildly some dilated aortic root without dissection signs and normal left ventricle and coronary arteries. The patient was presented for surgical evaluation but, since no dissection was present, was not considered urgent surgery; she was admitted to the coronary unit and died 48 hours later in a situation of acute pericardial tamponade, documented by TTE, surely due to rupture of the aortic root to pericardial sack. This way of presenting threatened aorta rupture that has been only recently recognized is discussed, as well as some misconceptions which must be avoided. PMID:7569267

  17. Aneurysm of an Aberrant Right Subclavian Artery Successfully Excluded by a Thoracic Aortic Stent Graft with Supra-aortic Bypass of Three Arch Vessels

    SciTech Connect

    Munneke, Graham J. Loosemore, Thomas M.; Belli, Anna-Maria; Thompson, Matt M.; Morgan, Robert A.

    2005-06-15

    An aberrant right subclavian artery (ARSA) arising from a left-sided aortic arch is the fourth most common aortic arch anomaly. Aneurysmal dilatation of the ARSA requires treatment because of the associated risk of rupture. We present a case where supra-aortic bypass of the arch vessels was performed to facilitate exclusion of the aneurysm by a thoracic aortic stent graft.

  18. Aortic valve replacement in rheumatoid aortic incompetence.

    PubMed Central

    Devlin, A B; Goldstraw, P; Caves, P K

    1978-01-01

    Rheumatoid aortic valve disease is uncommon. and there are few reports of valve replacement in this condition. Aortic valve replacement and partial pericardiectomy was performed in a patient with acute rheumatoid aortitis and aortic incompetence. Previous reports suggest that any patient with rheumatoid arthritis who develops cardiac symptoms should be carefully assessed for surgically treatable involvement of the pericardium or heart valves. Images PMID:725829

  19. Transcatheter aortic valve implantation.

    PubMed

    Nielsen, Hans Henrik Møller

    2012-12-01

    Transcatheter aortic valve implantation (TAVI) was introduced experimentally in 1989, based on a newly developed heart valve prosthesis - the stentvalve. The valve was invented by a Danish cardiologist named Henning Rud Andersen. The new valve was revolutionary. It was foldable and could be inserted via a catheter through an artery in the groin, without the need for heart lung machine. This allowed for a new valve implantation technique, much less invasive than conventional surgical aortic valve replacement (SAVR). Surgical aortic valve replacement is safe and improves symptoms along with survival. However, up to 1/3 of patients with aortic valve stenosis cannot complete the procedure due to frailty. The catheter technique was hoped to provide a new treatment option for these patients. The first human case was in 2002, but more widespread clinical use did not begin until 2006-2010. Today, in 2011, more than 40,000 valves have been implanted worldwide. Initially, because of the experimental character of the procedure, TAVI was reserved for patients who could not undergo SAVR due to high risk. The results in this group of patients were promising. The procedural safety was acceptable, and the patients experienced significant improvements in their symptoms. Three of the papers in this PhD-thesis are based on the outcome of TAVI at Skejby Hospital, in this high-risk population [I, II and IV]. Along with other international publications, they support TAVI as being superior to standard medical treatment, despite a high risk of prosthetic regurgitation. These results only apply to high-risk patients, who cannot undergo SAVR. The main purpose of this PhD study has been to investigate the quality of TAVI compared to SAVR, in order to define the indications for this new procedure. The article attached [V] describes a prospective clinical randomised controlled trial, between TAVI to SAVR in surgically amenable patients over 75 years of age with isolated aortic valve stenosis

  20. Liverpool Aortic Surgery Symposium V: New Frontiers in Aortic Disease and Surgery

    PubMed Central

    Bashir, Mohamad; Fok, Matthew; Shaw, Matthew; Field, Mark; Kuduvalli, Manoj; Desmond, Michael; Harrington, Deborah; Rashid, Abbas; Oo, Aung

    2014-01-01

    Aortic aneurysm disease is a complex condition that requires a multidisciplinary approach in management. The innovation and collaboration among vascular surgery, cardiothoracic surgery, interventional radiology, and other related specialties is essential for progress in the management of aortic aneurysms. The Fifth Liverpool Aortic Surgery Symposium that was held in May 2013 aimed at bringing national and international experts from across the United Kingdom and the globe to deliver their thoughts, applications, and advances in aortic and vascular surgery. In this report, we present a selected short synopsis of the key topics presented at this symposium. PMID:26798724

  1. Abdominal aortic aneurysm

    MedlinePlus

    ... to the abdomen, pelvis, and legs. An abdominal aortic aneurysm occurs when an area of the aorta becomes ... blood pressure Male gender Genetic factors An abdominal aortic aneurysm is most often seen in males over age ...

  2. Aortic aneurysm repair - endovascular

    MedlinePlus

    ... Endovascular aneurysm repair - aorta; AAA repair - endovascular; Repair - aortic aneurysm - endovascular ... leaking or bleeding. You may have an abdominal aortic aneurysm that is not causing any symptoms or problems. ...

  3. Aortic aneurysm repair - endovascular

    MedlinePlus

    EVAR; Endovascular aneurysm repair - aorta; AAA repair - endovascular; Repair - aortic aneurysm - endovascular ... leaking or bleeding. You may have an abdominal aortic aneurysm that is not causing any symptoms or problems. ...

  4. Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome.

    PubMed

    Pradhan, P; Deb, J; Deb, R; Chakrabarti, S

    2009-12-01

    A 22-year-old male patient was admitted with severe cough associated with purulent expectoration, left-sided chest pain and breathlessness. There was a history of recurrent respiratory ailments since childhood. The patient appeared younger than his chronological age. His face and ears were both dysmorphic. Clinically, the patient was diagnosed with Ehlers-Danlos syndrome (EDS). Computed tomography of the thoracic region revealed hypoplasia of the left lung and hyperplasia of the right lung. Both the patellae were absent. However, ultrasonography of his abdomen, echocardiography and other routine blood and urine examination showed no gross abnormalities. Although other respiratory tract abnormalities with EDS are not uncommon, unilateral lung hypoplasia and patellar agenesis in EDS make this case unique. PMID:20087544

  5. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    PubMed

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies. PMID:22156648

  6. Abdominal Aortic Aneurysms: Treatments

    MedlinePlus

    ... information Membership Directory (SIR login) Interventional Radiology Abdominal Aortic Aneurysms Interventional Radiologists Treat Abdominal Aneurysms Nonsurgically Interventional radiologists ...

  7. Vertebral Artery Hypoplasia in a Black Kenyan Population

    PubMed Central

    Ogeng'o, Julius; Olabu, Beda; Sinkeet, Rankeet; Ogeng'o, Nafula M.; Elbusaid, Hemedi

    2014-01-01

    This study examined the characteristics of vertebral artery hypoplasia in 346 arteries of adult black Kenyans. The circumference was measured on haematoxylin/eosin stained microscopic sections of the distal one-third of the intracranial vertebral arteries using scion image analyser. Internal diameter was calculated in millimetre. Data were analysed using SPSS version 16.0. Vertebral artery hypoplasia (diameter < 2.0 mm) occurred in 100 (28.9%) arteries. Sixty of these (17.3%) were on the left and 40 (11.6%) on the right. Sixty (17.3%) were in females while 40 (11.6%) were in males. The side and gender differences were statistically significant at confidence interval of 95%. Frequency of vertebral artery hypoplasia was higher than in most other populations studied. The condition differs from that in other populations because it is more common on the left side and in females. We recommend ultrasound, angio-CT, or angio-MRI evaluation of vertebral arterial system before diagnostic or interventional procedures on posterior circulation.

  8. Pseudoaneurysm of the aortic arch

    PubMed Central

    Lu, Yuan-Qiang; Yao, Feng; Shang, An-Dong; Pan, Jian

    2016-01-01

    Abstract Background: Pseudoaneurysm of the aortic arch is uncommonly associated with cancer, and is extremely rare in pulmonary cancer. Here, we report an unusual and successfully treated case of aortic arch pseudoaneurysm in a male patient with lung squamous cell carcinoma. Methods: A 64-year-old male patient was admitted to the Emergency Department, presenting with massive hemoptysis (>500 mL blood during the 12 hours prior to treatment). The diagnosis of aortic arch pseudoaneurysm was confirmed after inspection of computed tomographic angiography and three-dimensional reconstruction. We processed the immediate endovascular stent-grafting for this patient. Results: This patient recovered with no filling or enlargement of the pseudoaneurysm, no episodes of hemoptysis, and no neurological complications during the 4-week follow-up period. Conclusion: Herein, we compare our case with other cancer-related pseudoaneurysms in the medical literature and summarize the clinical features and treatment of this unusual case. PMID:27495079

  9. Transcatheter aortic valve implantation

    PubMed Central

    Oliemy, Ahmed

    2014-01-01

    Transcatheter aortic valve implantation was developed to offer a therapeutic solution to patients with severe symptomatic aortic stenosis who are not candidates for conventional aortic valve replacement. The improvement in transcatheter aortic valve implantation outcomes is still of concern in the areas of stroke, vascular injury, heart block, paravalvular regurgitation and valve durability. Concomitantly, the progress, both technical and in terms of material advances of transcatheter valve systems, as well as in patient selection, renders transcatheter aortic valve implantation an increasingly viable treatment for more and more patients with structural heart disease. PMID:25374670

  10. Multimodality Imaging Approach towards Primary Aortic Sarcomas Arising after Endovascular Abdominal Aortic Aneurysm Repair: Case Series Report.

    PubMed

    Kamran, Mudassar; Fowler, Kathryn J; Mellnick, Vincent M; Sicard, Gregorio A; Narra, Vamsi R

    2016-06-01

    Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented to display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR. PMID:26721588

  11. Fetal cardiac circulation in isolated aortic atresia assessed with ultrasound.

    PubMed

    Sayit, Aslı Tanrıvermiş; Ipek, Ali; Kurt, Aydın; Aghdasi, Bayan G; Arslan, Halil; Gümüş, Mehmet

    2012-01-01

    Congenital heart diseases are common, with an incidence of more than 8 in 1000 live births. Aortic atresia is a rare diagnosis and its prognosis is very poor. In this article, we present a case of isolated aortic atresia, a very rare cardiovascular anomaly, and its fetal ultrasound findings which include blood flow at foramen ovale from left to right, right deviation of the interventricular septum, dysfunction of the mitral valve and cardiomegaly. Aortic stenosis should be considered in the differential diagnosis of aortic atresia. However, in the case of severe aortic stenosis and/or accompanying ventricular septal defect, differential diagnosis may not be done. PMID:24592058

  12. Stroke Volume estimation using aortic pressure measurements and aortic cross sectional area: Proof of concept.

    PubMed

    Kamoi, S; Pretty, C G; Chiew, Y S; Pironet, A; Davidson, S; Desaive, T; Shaw, G M; Chase, J G

    2015-08-01

    Accurate Stroke Volume (SV) monitoring is essential for patient with cardiovascular dysfunction patients. However, direct SV measurements are not clinically feasible due to the highly invasive nature of measurement devices. Current devices for indirect monitoring of SV are shown to be inaccurate during sudden hemodynamic changes. This paper presents a novel SV estimation using readily available aortic pressure measurements and aortic cross sectional area, using data from a porcine experiment where medical interventions such as fluid replacement, dobutamine infusions, and recruitment maneuvers induced SV changes in a pig with circulatory shock. Measurement of left ventricular volume, proximal aortic pressure, and descending aortic pressure waveforms were made simultaneously during the experiment. From measured data, proximal aortic pressure was separated into reservoir and excess pressures. Beat-to-beat aortic characteristic impedance values were calculated using both aortic pressure measurements and an estimate of the aortic cross sectional area. SV was estimated using the calculated aortic characteristic impedance and excess component of the proximal aorta. The median difference between directly measured SV and estimated SV was -1.4ml with 95% limit of agreement +/- 6.6ml. This method demonstrates that SV can be accurately captured beat-to-beat during sudden changes in hemodynamic state. This novel SV estimation could enable improved cardiac and circulatory treatment in the critical care environment by titrating treatment to the effect on SV. PMID:26736434

  13. Natural course of pontocerebellar hypoplasia type 2A

    PubMed Central

    2014-01-01

    Introduction Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation. Patients and methods Patients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview. Results Thirty-three patients were included. When considering survival until age 11 years, 53% of children had died Weight, length and head circumference, mostly in the normal range at birth, became abnormal, especially head circumference (-5.58 SD at age 5 yrs). Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal signs), 12% had pure spasticity. Epileptic seizures were manifest in 82%, status epilepticus in 39%. Non-epileptic dystonic attacks occurred in 33%. General symptoms: feeding difficulties were recorded in 100%, sleep disorder in 96%, apneas in 67% and recurrent infections in 52%; gastroesophageal reflux disease was diagnosed in 73%, 67% got percutaneous endoscopic gastrostomy and 36% a Nissen-fundoplication. Neurodevelopmental data: All children made progress, but on a low level: such as fixing and following with the eyes was seen in 76%, attempting to grasp objects (76%), moderate head control (73%), social smile (70%), rolling from prone to supine (58%), and sitting without support (9%). Ten percent lost achieved abilities on follow-up. The presence of prenatal symptoms did not correlate with outcome. Conclusion Phenotype of this genetically homogeneous group of PCH2 children was

  14. Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review.

    PubMed

    Ashkenazi, Malka; Rafe, Zvi; Sarnat, Haim; Levin, Liran

    2014-01-01

    Enamel-renal syndrome (ERS) is a rare manifestation of nephrocalcinosis that has been associated with generalized enamel hypoplasia. The purpose of this paper was to describe, for the first time, the association of enamel-renal syndrome with severe localized periodontal bone loss. A 13-year-old boy presented with: generalized hypoplastic enamel; intrapulpal calcifications; retention of primary teeth; delayed eruption of permanent teeth; enlarged dental-follicles; misshaped roots of permanent teeth; gingival overgrowth; severe localized alveolar bone loss; and severe malocclusion. His parents were first cousins, suggesting autosomal recessive inheritance. Further studies are necessary to clarify whether the etiology of the oral disturbances relates to the genetic defect in the dental tissue or to the continuous metabolic distress associated with renal dysfunction. Nevertheless, since nephrocalcinosis is often asymptomatic, dentists should refer children with generalized enamel hypoplasia or/and multiple intrapulpal calcifications to nephrologists. PMID:24960394

  15. Chronic hepatitis C infection in a patient with bone marrow hypoplasia.

    PubMed

    Bethlen, S; Chandrikakumari, K; de Leval, L; Giot, J-B; Mukeba, D; Leonard, P; Frippiat, F; Meuris, C; Delwaide, J; Moutschen, M

    2008-07-14

    Chronic hepatitis C virus (HCV) infection is associated with multifarious extra-hepatic manifestations; the most described and discussed being mixed cryoglobulinemia which is strongly related to B-cell lymphoproliferative disorders (LPDs). We present a case of chronic HCV infection and mixed cryoglobulinemia, with minimal liver involvement. The case is a 53-year-old patient who was diagnosed as having bone marrow hypoplasia at the age of three. She received several blood transfusions to normalize her haemoglobin. At the age of 31, she was diagnosed with rheumatoid arthritis on account of her diffuse joint pain and inflammation, elevated rheumatoid factor (RF) and Raynaud's phenomenon. Twenty years later, monoclonal gammopathy of IgG Lambda (one year later, changed to IgM Kappa) was detected during a routine examination. A bone marrow biopsy showed hypoplasia, Kappa positive B-lymphocytes and low-grade malignant lymphoma cells. PCR of the bone marrow aspirate was not contributory. No treatment was initiated owing to her poor bone marrow function and she is under regular follow-up. PMID:18636673

  16. Left ventricular apical hypoplasia: Case report on cardiomyopathy and a history of sudden cardiac death

    PubMed Central

    Alizadeh Sani, Zahra; Vojdanparast, Mohammad; Rezaeian, Nahid; Seifi, Azin; Omidvar Tehrani, Sahar; Nezafati, Pouya

    2016-01-01

    BACKGROUND Isolated left ventricular apical hypoplasia with several different unrecognized dimensions is a newly discovered congenital anomaly of the heart. CASE REPORT In this report, we describe a case of cardiomyopathy of this type occurring in a 13-year-old male with a history of mental retardation and sudden cardiac death (SCD) of second-degree relatives. The patient was referred for an evaluation of cardiac status. An echocardiography analysis demonstrated a spherical left ventricle (LV) appearance with mild mitral regurgitation. Cardiac magnetic resonance imaging (MRI) confirmed a spherical and truncated LV appearance. The right ventricle was found to have elongated and wrapped around the LV, and diverticulum was also seen in the cardiac MRI. CONCLUSION To the best of our knowledge, this is to present the first case of LV apical hypoplasia combined with LV diverticulum and a family history of SCD. As more cases featuring this cardiomyopathy type are recognized, it will be easier to elucidate the natural history and management of such cardiac anomalies. PMID:27114737

  17. Visceral Infarction Following Aortic Surgery

    PubMed Central

    Johnson, Willard C.; Nabseth, Donald C.

    1974-01-01

    An experience with aortic surgery is reported which reveals that visceral ischemia is more frequent than expected and significantly contributes to operative mortality. Two of five deaths among 84 patients who had aorto-iliac occlusive disease and four of 40 deaths among 103 aneurysmectomies (both ruptured and elective) were related to visceral ischemia. A review of the literature reveals 99 cases of colonic ischemia in more than 6,100 cases of aortic surgery, an incidence of 1.5%. Only 10 cases of small bowel ischemia were recorded. The present experience with 9 cases of colon ischemia and one of small bowel ischemia is presented particularly with reference to pathophysiology and prevention. It is concluded that patients should be identified by appropriate angiography if considered a risk for visceral infarction, and, if present, visceral arterial reconstruction should be performed in addition to aortic reconstructive surgery. Colon infarction following aortic aneurysmal surgery is directly related to ligation of a patent IMA. Thus re-implantation of the patent IMA should be considered. ImagesFig. 1a. PMID:4277757

  18. Aortic Valve Sparing in Different Aortic Valve and Aortic Root Conditions.

    PubMed

    David, Tirone E

    2016-08-01

    The development of aortic valve-sparing operations (reimplantation of the aortic valve and remodeling of the aortic root) expanded the surgical armamentarium for treating patients with aortic root dilation caused by a variety of disorders. Young adults with aortic root aneurysms associated with genetic syndromes are ideal candidates for reimplantation of the aortic valve, and the long-term results have been excellent. Incompetent bicuspid aortic valves with dilated aortic annuli are also satisfactorily treated with the same type of operation. Older patients with ascending aortic aneurysm and aortic insufficiency secondary to dilated sinotubular junction and a normal aortic annulus can be treated with remodeling of the aortic root or with reimplantation of the aortic valve. The first procedure is simpler, and both procedures are likely equally effective. As with any heart valve-preserving procedure, patient selection and surgical expertise are keys to successful and durable repairs. PMID:27491910

  19. Prostaglandin synthesis inhibitors block alcohol-induced fetal hypoplasia.

    PubMed

    Pennington, S; Allen, Z; Runion, J; Farmer, P; Rowland, L; Kalmus, G

    1985-01-01

    Alcohol-induced growth retardation is a fetal effect consistently associated with maternal ethanol consumption. In humans, those infants whose mothers consume even a limited amount of ethanol during pregnancy have a significant incidence of growth inhibition. The molecular mechanism responsible for this growth deficiency is unknown, and prevention depends on maternal abstinence during pregnancy. The data reported here suggest that ethanol-mediated increases in tissue prostaglandin (PG) E levels (PGE1 plus PGE2) are correlated with the growth retardation. Further, simultaneous administration of PG synthesis inhibitors with the alcohol blocks the rise in tissue PG levels and protects against the alcohol-induced hypoplasia. PMID:3904508

  20. Aortic Stenosis and Vascular Calcifications in Alkaptonuria

    PubMed Central

    Hannoush, Hwaida; Introne, Wendy J.; Chen, Marcus Y.; Lee, Sook-Jin; O'Brien, Kevin; Suwannarat, Pim; Kayser, Michael A.; Gahl, William A.; Sachdev, Vandana

    2011-01-01

    Alkaptonuria is a rare metabolic disorder of tyrosine catabolism in which homogentisic acid (HGA) accumulates and is deposited throughout the spine, large joints, cardiovascular system, and various tissues throughout the body. In the cardiovascular system, pigment deposition has been described in the heart valves, endocardium, pericardium, aortic intima and coronary arteries. The prevalence of cardiovascular disease in patients with alkaptonuria varies in previous reports . We present a series of 76 consecutive adult patients with alkaptonuria who underwent transthoracic echocardiography between 2000 and 2009. A subgroup of 40 patients enrolled in a treatment study underwent non-contrast CT scans and these were assessed for vascular calcifications. Six of the 76 patients had aortic valve replacement. In the remaining 70 patients, 12 patients had aortic sclerosis and 7 patients had aortic stenosis. Unlike degenerative aortic valve disease, we found no correlation with standard cardiac risk factors. There was a modest association between the severity of aortic valve disease and joint involvement, however, we saw no correlation with urine HGA levels. Vascular calcifications were seen in the coronaries, cardiac valves, aortic root, descending aorta and iliac arteries. These findings suggest an important role for echocardiographic screening of alkaptonuria patients to detect valvular heart disease and cardiac CT to detect coronary artery calcifications. PMID:22100375

  1. Laparoscopic extraperitoneal para-aortic lymphadenectomy

    PubMed Central

    Iserte, Pablo Padilla; Minig, Lucas; Zorrero, Cristina

    2015-01-01

    Lymph nodes are the main pathway in the spread of gynaecological malignancies, being a well-known prognostic factor. Lymph node dissection is a complex surgical procedure and requires surgical expertise to perform the procedure, thereby minimising complications. In addition, lymphadenectomy has value in the diagnosis, prognosis, and treatment of patients with gynaecologic cancer. Therefore, a video focused on the para-aortic retroperitoneal anatomy and the surgical technique of the extraperitoneal para-aortic lymphadenectomy is presented. PMID:26435746

  2. Surgical repair of aortic dissection 16 years post-Ross procedure

    PubMed Central

    Myers, Mollie R.; Magruder, J. Trent; Crawford, Todd C.; Grimm, Joshua C.; Halushka, Marc K.; Baumgartner, William A.; Cameron, Duke E.

    2016-01-01

    The Ross procedure is an excellent choice for younger patients in need of aortic valve replacement. While patients have benefited from superior survival rates associated with this procedure, complications related to aortic root dilatation and degeneration of the autograft may be encountered later in life. These challenges may be exacerbated in those with underlying connective tissue abnormalities, a phenomenon commonly observed in the bicuspid aortic valve population. In this report, we present the case of a patient who presented with an aortic dissection 16 years after a Ross procedure for aortic insufficiency in the setting of a bicuspid aortic valve, and review the existing literature related to this adverse event. PMID:27141044

  3. Surgical repair of aortic dissection 16 years post-Ross procedure.

    PubMed

    Myers, Mollie R; Magruder, J Trent; Crawford, Todd C; Grimm, Joshua C; Halushka, Marc K; Baumgartner, William A; Cameron, Duke E

    2016-01-01

    The Ross procedure is an excellent choice for younger patients in need of aortic valve replacement. While patients have benefited from superior survival rates associated with this procedure, complications related to aortic root dilatation and degeneration of the autograft may be encountered later in life. These challenges may be exacerbated in those with underlying connective tissue abnormalities, a phenomenon commonly observed in the bicuspid aortic valve population. In this report, we present the case of a patient who presented with an aortic dissection 16 years after a Ross procedure for aortic insufficiency in the setting of a bicuspid aortic valve, and review the existing literature related to this adverse event. PMID:27141044

  4. Mathematical modeling of aortic valve dynamics during systole.

    PubMed

    Aboelkassem, Yasser; Savic, Dragana; Campbell, Stuart G

    2015-01-21

    We have derived a mathematical model describing aortic valve dynamics and blood flow during systole. The model presents a realistic coupling between aortic valve dynamics, sinus vortex local pressure, and variations in the systemic vascular resistance. The coupling is introduced by using Hill׳s classical semi-spherical vortex model and an aortic pressure-area compliance constitutive relationship. The effects of introducing aortic sinus eddy vortices and variable systemic vascular resistance on overall valve opening-closing dynamics, left ventricular pressure, aortic pressure, blood flow rate, and aortic orifice area are examined. In addition, the strength of the sinus vortex is coupled explicitly to the valve opening angle, and implicitly to the aortic orifice area in order to predict how vortex strength varies during the four descriptive phases of aortic valve motion (fast-opening, fully-opening, slow-closing, and fast-closing). Our results compare favorably with experimental observations and the model reproduces well-known phenomena corresponding to aortic valve function such as the dicrotic notch and retrograde flow at end systole. By invoking a more complete set of physical phenomena, this new model will enable representation of pathophysiological conditions such as aortic valve stenosis or insufficiency, making it possible to predict their integrated effects on cardiac load and systemic hemodynamics. PMID:25451522

  5. Computer-aided design of the human aortic root.

    PubMed

    Ovcharenko, E A; Klyshnikov, K U; Vlad, A R; Sizova, I N; Kokov, A N; Nushtaev, D V; Yuzhalin, A E; Zhuravleva, I U

    2014-11-01

    The development of computer-based 3D models of the aortic root is one of the most important problems in constructing the prostheses for transcatheter aortic valve implantation. In the current study, we analyzed data from 117 patients with and without aortic valve disease and computed tomography data from 20 patients without aortic valvular diseases in order to estimate the average values of the diameter of the aortic annulus and other aortic root parameters. Based on these data, we developed a 3D model of human aortic root with unique geometry. Furthermore, in this study we show that by applying different material properties to the aortic annulus zone in our model, we can significantly improve the quality of the results of finite element analysis. To summarize, here we present four 3D models of human aortic root with unique geometry based on computational analysis of ECHO and CT data. We suggest that our models can be utilized for the development of better prostheses for transcatheter aortic valve implantation. PMID:25238567

  6. Chest radiography in acute aortic syndrome: pearls and pitfalls.

    PubMed

    Chawla, Ashish; Rajendran, Surendran; Yung, Wai Heng; Babu, Suresh Balasubramanian; Peh, Wilfred C

    2016-08-01

    Acute aortic syndrome is a group of life-threatening diseases of the thoracic aorta that usually present to the emergency department. It includes aortic dissection, aortic intramural hematoma, and penetrating aortic ulcer. Rare aortic pathologies of aorto-esophageal fistula and mycotic aneurysm may also be included in this list. All these conditions require urgent treatment with complex clinical care and management. Most patients who present with chest pain are evaluated with a chest radiograph in the emergency department. It is important that maximum diagnostic information is extracted from the chest radiograph as certain signs on the chest radiograph are extremely useful in pointing towards the diagnosis of acute aortic syndrome. PMID:27282377

  7. A rare cause of recurrent aortic dissection.

    PubMed

    Agrawal, Yashwant; Gupta, Vishal

    2016-07-01

    We report the case of a 19-year-old man with a history of Loeys-Dietz syndrome (LDS), which was diagnosed when he had a Stanford type A aortic dissection. He also had multiple aneurysms including ones in the innominate, right common carotid, and right internal mammary arteries. He had had multiple procedures including Bentall's procedure, repeat sternotomy with complete arch and valve replacement, and coil embolization of internal mammary artery aneurysm in the past. His LDS was characterized by gene mutation for transforming growth factor-β receptor 1. He presented to our facility with sudden onset of back pain, radiating to the right shoulder and chest. He was diagnosed with Stanford type B aortic dissection and underwent thoracic aorta endovascular repair for his aortic dissection. This case represents the broad spectrum of pathology associated with LDS where even with regular surveillance and aggressive medical management the patient developed Stanford B aortic dissection. PMID:27358537

  8. Nanobacteria-associated calcific aortic valve stenosis.

    PubMed

    Jelic, Tomislav M; Chang, Ho-Huang; Roque, Rod; Malas, Amer M; Warren, Stafford G; Sommer, Andrei P

    2007-01-01

    Calcific aortic valve stenosis is the most common valvular disease in developed countries, and the major reason for operative valve replacement. In the US, the current annual cost of this surgery is approximately 1 billion dollars. Despite increasing morbidity and mortality, little is known of the cellular basis of the calcifications, which occur in high-perfusion zones of the heart. The case is presented of a patient with calcific aortic valve stenosis and colonies of progressively mineralized nanobacteria in the fibrocalcific nodules of the aortic cusps, as revealed by transmission electron microscopy. Consistent with their outstanding bioadhesivity, nanobacteria might serve as causative agents in the development of calcific aortic valve stenosis. PMID:17315391

  9. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    PubMed Central

    Miyake, Tomoko; Kojima, Shota; Sugiyama, Tetsuya; Ueki, Mari; Sugasawa, Jun; Oku, Hidehiro; Tajiri, Kensuke; Shigemura, Yuka; Ueda, Koichi; Harada, Atsuko; Yamasaki, Mami; Yamanaka, Takumi; Utsunomiya, Hidetsuna; Ikeda, Tsunehiko

    2016-01-01

    Introduction The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA) handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter) and 8 mmHg (Oculus Sinister). B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound biomicroscopy revealed that almost all directions were open except for the peripheral anterior synechia. Since magnetic resonance imaging revealed ventriculomegaly associated with an interhemispheric cyst at birth, a ventriculoperitoneal shunt was inserted at 12 days of age. At 25 months of age, her condition suddenly deteriorated due to occlusion of the ventricular shunt catheter, and she died 5 days later. In this patient, amniotic band syndrome was presumed to be the primary cause due to the clinical findings. Conclusion We experienced a case of optic-nerve hypoplasia and anterior segment abnormality that occurred with facial cleft. The cause of these

  10. Can release of urinary retention trigger abdominal aortic aneurysm rupture?

    PubMed Central

    Luhmann, Andreas; Powell-Bowns, Matilda; Elseedawy, Emad

    2013-01-01

    Only 50% of abdominal aortic aneurysms present with the classic triad of hypotension, back pain and a pulsatile abdominal mass. This variability in symptoms can delay diagnosis and treatment. We present the case of a patient presenting with a unique combination of symptoms suggesting that decompression of urinary retention can lead to abdominal aortic aneurysm rupture. PMID:24964430

  11. Aortic Balloon Valvuloplasty Prior to Orthotopic Liver Transplantation: A Novel Approach to Aortic Stenosis and End-Stage Liver Disease

    PubMed Central

    Coverstone, Edward; Korenblat, Kevin; Crippin, Jeffrey S.; Chapman, William C.; Kates, Andrew M.; Zajarias, Alan

    2014-01-01

    The combination of severe aortic stenosis and end-stage liver disease increases the morbidity and mortality of surgical aortic valve replacement or orthotopic liver transplantation resulting in a prohibitive operative risk. We propose a staged approach of balloon aortic valvuloplasty prior to orthotopic liver transplantation as a bridge to definitive aortic valve replacement. Between 2010 and 2012, four patients with severe aortic stenosis and end-stage liver disease underwent staged balloon aortic valvuloplasty followed by orthotopic liver transplantation. All patients had been deemed to be inappropriate candidates for liver transplantation or aortic valve surgery due to their comorbidity. One patient died of complications from a perivalvular abscess. Three patients went on to successful graft implantation and function and surgical recovery. Two of the three patients proceeded to definitive surgical aortic valve replacement with the remainder currently undergoing evaluation. In this case series, we present a novel approach of balloon aortic valvuloplasty prior to liver transplantation as a potential bridge to definitive treatment of severe aortic stenosis in the end-stage liver patient. PMID:25431682

  12. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

    PubMed Central

    Zaki, Maha S; Salam, Ghada M H Abdel; Saleem, Sahar N; Dobyns, William B; Issa, Mahmoud Y; Sattar, Shifteh; Gleeson, Joseph G

    2011-01-01

    We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc. PMID:22002884

  13. Rare Case of Unilateral Hypoplasia of Lung with Associated Ventricular Mass in an Adult

    PubMed Central

    Alam, Azad; Iyer, Aparna; Kutty, Jayalakshmi Thelapurath

    2016-01-01

    Hypoplasia of the lung is a rare congenital condition which can be: a) primary i.e. no apparent cause is found; or b) secondary i.e. associated with other congenital anomalies that are implicated in its pathogenesis. These anomalies may involve the diaphragm, cardiovascular, central nervous, urogenital and musculoskeletal system. Patients usually present in neonatal, infancy or childhood period and very rarely in adulthood. Our patient was an adult having a unilateral hypoplastic lung associated with a ventricular mass and to our knowledge this rare combination has never been reported in the English literature; though there are reports of prenatal or newborns with hypoplastic lung and rhabdomyoma of ventricle who did not survive.

  14. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

    PubMed Central

    Stoll, Marion; Teoh, Hooiling; Lee, James; Reddel, Stephen; Zhu, Ying; Buckley, Michael; Sampaio, Hugo; Roscioli, Tony; Farrar, Michelle

    2016-01-01

    Objective: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. Methods: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. Results: We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. Conclusions: VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia. PMID:27281532

  15. Left main compression by an aortic root abscess.

    PubMed

    Misuraca, Leonardo; De Caro, Francesco; De Carlo, Marco; Barzaghi, Carlo; Scioti, Gianni; Minzioni, Gaetano; Petronio, Anna S

    2012-03-01

    A 79-year-old man with severe aortic stenosis, history of coronary artery disease and a recent hospitalization for sepsis presented at our institution following a syncope and angina at rest. Coronary angiography and aortography showed an aortic root abscess, causing left main coronary artery compression. This life-threatening complication of aortic valve endocarditis is rare and requires immediate surgical correction. PMID:22306781

  16. Hemodynamic evaluation of suspected severe aortic stenosis leads to a diagnosis of renal cell carcinoma.

    PubMed

    Lake, Mikhailia; Tanawuttiwat, Tanyanan; Bilsker, Martin; De Marchena, Eduardo

    2015-02-01

    The evaluation of aortic stenosis is not always straightforward. When symptoms of severe aortic stenosis are present with supporting Doppler echocardiographic or cardiac catheterization data, replacement of the aortic valve is recommended. Occasionally, Doppler- and catheter-derived data are discordant; appropriate treatment in such cases becomes less clear. We report a case in which a 66-year-old man's symptoms and Doppler data suggested severe aortic stenosis. However, heart catheterization data suggested otherwise, and ultimately it led to the diagnosis of a highly vascular renal tumor. Shunting within the tumor resulted in high cardiac output, which, in combination with a small aortic root, masqueraded as severe aortic stenosis. PMID:25873807

  17. A novel formula for the classification of blood vessels according to symmetry, asymmetry and hypoplasia.

    PubMed

    Zurada, A; Gielecki, J S

    2007-11-01

    A new mathematical formula for calculating the symmetry, asymmetry and hypoplasia of blood vessel segments is presented for discussion. The study was conducted using the computed tomography (CT) files from 80 patients (34 men and 46 women) from the Silesian University Hospital, Silesia, Poland, who were between the ages of 12 to 76 and had undergone CT angiography of the circle of Willis. With the use of Gradual Angiographic Image Data Analyser software and double shuttled glasses, CT files were reconstructed. In addition, 80 renal arteries (RAs) from spontaneously aborted foetuses ranging in age from 14 to 30 weeks (24 male and 16 female) were injected with latex and also included in the study. Digital images of the RAs were taken using a Camedia 4040 camera and analysed using original analysis software. A novel formula entitled the Vascular Asymmetry Coefficient (VAC) was derived for this purpose and displays the differences between the mean diameters of blood vessel segments expressed as a percentage of the wider vessel with respect to the major diameter. The asymmetrical classification for a vascular segment of a vessel is given when the difference between the mean diameters of the vascular segment, as represented by the wider vessel, is greater than VAC > 10%. The hypoplastic classification is reserved for blood vessels where the difference between the diameter of the two segments is expressed as a percentage of the wider vessels and is greater than VAC > 40%. While there have been inconsistent and arbitrary classifications for the qualitative criteria of blood vessels, this newly presented algorithm can be used as a standardised tool and has a considerable range of uses, particularly when comparing blood vessel symmetry, asymmetry and hypoplasia prior to bifurcation, and unification. PMID:18058758

  18. Diagnosis and management of acute aortic syndromes: dissection, intramural hematoma, and penetrating aortic ulcer.

    PubMed

    Bonaca, Marc P; O'Gara, Patrick T

    2014-01-01

    Acute aortic syndromes constitute a spectrum of conditions characterized by disruptions in the integrity of the aortic wall that may lead to potentially catastrophic outcomes. They include classic aortic dissection, intramural hematoma, and penetrating aortic ulcer. Although imaging studies are sensitive and specific, timely diagnosis can be delayed because of variability in presenting symptoms and the relatively low frequency with which acute aortic syndromes are seen in the emergency setting. Traditional classification systems, such as the Stanford system, facilitate early treatment decision-making through recognition of the high risk of death and major complications associated with involvement of the ascending aorta (type A). These patients are treated surgically unless intractable and severe co-morbidities are present. Outcomes with dissections that do not involve the ascending aorta (type B) depend on the presence of acute complications (e.g., malperfusion, early aneurysm formation, leakage), the patency and size of the false lumen, and patient co-morbidities. Patients with uncomplicated type B dissections are initially treated medically. Endovascular techniques have emerged as an alternative to surgery for the management of complicated type B dissections when intervention is necessary. Patients with acute aortic syndromes require aggressive medical care, risk stratification for additional complications and targeted genetic assessment as well as careful long-term monitoring to assess for evolving complications. The optimal care of patients with acute aortic syndrome requires the cooperation of members of an experienced multidisciplinary team both in the acute and chronic setting. PMID:25156302

  19. [Use of sutureless prosthetic aortic valves in cardiac surgery].

    PubMed

    Santarpino, Giuseppe; Fischlein, Theodor

    2014-03-01

    In the last years, an increasing proportion of high-risk patients undergo surgical aortic valve replacement. In order to reduce the risk associated with cross-clamp time or cardioplegic ischemic time, sutureless aortic prostheses have been developed. These bioprosthetic valves are not hand sewn, and this technological advance translates into reduced implantation times, thus improving outcome of patients referred for aortic valve replacement. At present, three sutureless bioprostheses are available on the market: 3f Enable (Medtronic Inc., Minneapolis, Minnesota, USA), Perceval (Sorin Group, Saluggia, Italy) and Intuity (Edwards Lifesciences, Irvine, California, USA). This article provides an overview of the available literature on sutureless aortic valves with the aim to better define current role and future perspectives of sutureless aortic bioprostheses for the treatment of aortic valve stenosis. PMID:24770430

  20. Multiple multilayer stents for thoracoabdominal aortic aneurysm: a possible new tool for aortic endovascular surgery

    PubMed Central

    Tolva, Valerio Stefano; Bianchi, Paolo Guy; Cireni, Lea Valeria; Lombardo, Alma; Keller, Guido Carlo; Parati, Gianfranco; Casana, Renato Maria

    2012-01-01

    Purpose Endovascular surgery data are confirming the paramount role of modern endovascular tools for a safe and sure exclusion of thoracoabdominal lesions. Case report A 57-year-old female presented with severe comorbidity affected by a 58 mm thoracoabdominal aortic aneurysm (TAAA). After patient-informed consent and local Ethical Committee and Italian Public Health Ministry authorization, three multilayer stents were implanted in the thoracoabdominal aortic tract, obtaining at a 20-month computed tomography scan follow up, a complete exclusion of the TAAA, with normal patency of visceral vessels. Conclusion Multilayer stents can be used in thoracoabdominal aortic aneurysm, with positive results. PMID:22866014

  1. Sutureless aortic valve replacement

    PubMed Central

    Phan, Kevin

    2015-01-01

    The increasing incidence of aortic stenosis and greater co-morbidities and risk profiles of the contemporary patient population has driven the development of minimally invasive aortic valve surgery and percutaneous transcatheter aortic valve implantation (TAVI) techniques to reduce surgical trauma. Recent technological developments have led to an alternative minimally invasive option which avoids the placement and tying of sutures, known as “sutureless” or rapid deployment aortic valves. Potential advantages for sutureless aortic prostheses include reducing cross-clamp and cardiopulmonary bypass (CPB) duration, facilitating minimally invasive surgery and complex cardiac interventions, whilst maintaining satisfactory hemodynamic outcomes and low paravalvular leak rates. However, given its recent developments, the majority of evidence regarding sutureless aortic valve replacement (SU-AVR) is limited to observational studies and there is a paucity of adequately-powered randomized studies. Recently, the International Valvular Surgery Study Group (IVSSG) has formulated to conduct the Sutureless Projects, set to be the largest international collaborative group to investigate this technology. This keynote lecture will overview the use, the potential advantages, the caveats, and current evidence of sutureless and rapid deployment aortic valve replacement (AVR). PMID:25870807

  2. The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases.

    PubMed

    Boothroyd, A E; Hall, C M

    1988-01-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated in the Department of Radiology, The Hospital for Sick Children, Great Ormond Street for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests a more widespread mesodermal abnormality. PMID:3201278

  3. Operative Treatment of Combined Aortic Stenosis and Coronary Artery Disease

    PubMed Central

    Kadric, Nedzad; Kabil, Emir; Mujanovic, Emir; Hadziselimovic, Mehdin; Jahic, Mirza; Rajkovic, Stojan; Osmanovic, Enes; Avdic, Sevleta; Keranovic, Suad; Behrem, Adnan

    2015-01-01

    Introduction: The aortic valve replacement is a standard operating procedure in patients with severe aortic stenosis. Structure of patients undergoing surgery ranges from young population with isolated mitral valvular disease to the elderly population, which is in addition to the underlying disease additionally burdened with comorbidity. One of the most commonly present factors that further complicate the surgery is coronary heart disease that occurs in, almost, one third of patients with aortic stenosis. The aim is to compare the results of surgery for aortic valve replacement with or without coronary artery bypass graft (CABG). Patients and Methods: From August 2008 to January 2013 in our center operated on 120 patients for aortic stenosis. Of this number, 75 were men and 45 women. The average age was 63.37 years (16-78). Isolated aortic valve replacement was performed in 89 patients and in 31 patients underwent aortic valve replacement and coronary bypass surgery. Implanted 89 biological and 31 mechanical valves. Results: Patients with associated aortic stenosis and coronary artery disease were more expressed symptomatic symptoms preoperatively to patients with isolated aortic stenosis who were on average younger age. Intra-hospital morbidity and mortality was more pronounced in the group of patients with concomitant aortic valve replacement and coronary bypass surgery. Morbidity was recorded in 17 patients (14.3%) in both groups, while the mortality rate in both groups was 12 patients (10.1%). Conclusion: Evaluation of preoperative risk factors and comorbidity in patients with aortic stenosis and coronary artery disease contributes to a significant reduction in intraoperative and postoperative complications. Also, early diagnosis of associated coronary artery disease and aortic stenosis contributes to timely decision for surgery thus avoiding subsequent ischaemic changes and myocardial damage. PMID:25870480

  4. Aortic valve surgery - open

    MedlinePlus

    ... choose to have your aortic valve surgery at a center that does many of these procedures. ... DA, Harken AH. Acquired heart disease: valvular. In: Townsend CM, ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  5. Double aortic arch

    MedlinePlus

    ... double aortic arch may press on the windpipe (trachea) and esophagus, leading to trouble breathing and swallowing. ... to relieve pressure on the esophagus and windpipe (trachea). The surgeon ties off the smaller branch and ...

  6. [Acute aortic syndrome].

    PubMed

    Nienaber, Christoph A

    2016-06-01

    Acute aortic syndrome is the common denominator for acute events to the aortic wall and encompasses dissection of the aorta, intramural hematoma, formation of aortic ulcers and trauma to the aorta with an annual incidence of up to 35 cases/100.000 between 65 and 75 years of age. Both, inflammation and/or microtrauma at the level of the aortic media layer, and a genetic disposition are promoting elements of AAS, while the extent and anatomic involvement of the ascending aorta call for either surgical resection/repair in the proximal part of the aorta, or an endovascular solution for pathologies in the distal aorta; in all cases of dissection (regardless of location) reconstruction/realignment has been proven to portend better long-term outcomes (in addition to medical management of blood pressure). PMID:27254622

  7. Abdominal aortic aneurysm

    MedlinePlus

    ... main blood vessel that supplies blood to the abdomen, pelvis, and legs. An abdominal aortic aneurysm occurs ... dissection). Symptoms of rupture include: Pain in the abdomen or back. The pain may be severe, sudden, ...

  8. Abdominal aortic aneurysm.

    PubMed

    Setacci, Francesco; Galzerano, Giuseppe; De Donato, Gianmarco; Benevento, Domenico; Guerrieri, Massimiliano W; Ruzzi, Umberto; Borrelli, Maria P; Setacci, Carlo

    2016-02-01

    Endovascular repair of abdominal aortic aneurysms has become a milestone in the treatment of patients with abdominal aortic aneurysm. Technological improvement allows treatment in more and more complex cases. This review summarizes all grafts available on the market. A complete review of most important trial on this topic is provided to the best of our knowledge, and technical tips and tricks for standard cases are also included. PMID:26771730

  9. Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.

    PubMed

    Al-Saleh, Ahmed A; Hellani, Ali; Abu-Amero, Khaled K

    2011-04-01

    To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. His eye examination was normal with no iris transillumination. A fundus examination, however, showed classic signs of foveal hypoplasia. A molecular genetic investigation showed no mutation(s) in all genes screened and no chromosomal deletion(s) and/or duplication(s) were detected. We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia. PMID:21264491

  10. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius).

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  11. Left ventricular outflow tract false aneurysm late after aortic valve replacement.

    PubMed

    Bizzarri, Federico; Braconi, Lucio; Rossi, Alessandra; Sorbara, Carlo; Stefano, Pier Luigi

    2005-01-01

    We describe an unusual case of left ventricular outflow tract (LVOT) pseudoaneurysm late after aortic valve replacement. A 77-year-old man, who had undergone aortic valve replacement with mechanical prosthesis 7 years ago, presented, asymptomatic, with a transesophageal echocardiography (TTE) diagnosis of a large cavitary mass arising behind the aortic wall. The orifice of the pseudoaneurysm was successfully surgically closed and the aortic root reconstructed with cryopreserved homograft. PMID:15870043

  12. Preoperative evaluation of a patient for abdominal aortic aneurysm repair.

    PubMed Central

    Chonchubhair, A. N.; Cunningham, A. J.

    1998-01-01

    Coexistent cardiovascular disease is common in patients presenting for repair of aortic aneurysms. However, preoperative cardiac evaluation prior to abdominal aortic aneurysm (AAA) surgery remains contentious with significant variations in practice between countries, institutions and individual anesthetists. The following case report raises some everyday issues confronting clinical anesthetists. PMID:10604782

  13. Transapical Endovascular Repair of an Ascending Aortic Pseudoaneurysm.

    PubMed

    Howell, Eric; Sweet, Matthew P; Pal, Jay D

    2016-07-01

    Proximal aortic pathology provides a technical challenge for endovascular repair. We present a case of successful transapical endovascular aortic repair in a patient with a proximal suture line pseudoaneurysm who was not a candidate for open surgical repair. doi: 10.1111/jocs.12766 (J Card Surg 2016;31:456-460). PMID:27183897

  14. Cognitive and psychological functioning in focal dermal hypoplasia.

    PubMed

    Deidrick, Kathleen K M; Early, Martha; Constance, Jordan; Stein, Margot; Fete, Timothy J

    2016-03-01

    Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. To date, there has been no systematic research examining the psychoeducational impact of the disorder. The current study examined emotional, behavioral, adaptive, and intellectual ability in 17 subjects with ages ranging from 3 to 55 with FDH attending the 2013 Annual Family Conference of the National Foundation for Ectodermal Dysplasias. Findings suggested overall average functioning in all areas. However, wide variability was noted in this sample, with 3 participants (18%) exhibiting overall cognitive ability in the borderline to impaired range. These findings are consistent with previous reports suggesting intellectual impairment in 15% of persons with FDH. Similarly, a subgroup of children was rated by parents as exhibiting difficulties with behavior (2 out of 11; 18%) and emotions (5 out of 11; 45%). Of particular concern was withdrawn behavior, reported by 65% of parents. These findings suggest that clinicians should routinely screen persons with FDH to rule out cognitive and emotional/behavioral difficulties and offer timely treatment. Future research should focus on identifying risk factors for psychoeducational problems in this population. © 2016 Wiley Periodicals, Inc. PMID:26818018

  15. Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?

    PubMed Central

    Samanta, Debopam; Willis, Erin

    2016-01-01

    Introduction: Pontocerebellar hypoplasia (PCH) involves a diverse range of etiologies including a group of single gene disorders. Mutations in the tRNA splicing endonuclease complex (TSEN) 54 gene can be responsible for PCH type 2, 4 and 5. The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation. Report: We report a 4- month-old girl who presented with epileptic spasms that remained intractable to several antiepileptic medications. Magnetic Resonance Imaging (MRI) brain showed fairly severe hypoplasia with superimposed atrophy of the cerebellum and brainstem with prominent extra-axial fluid spaces. Extensive metabolic testing was negative. Commercial testing for PCH via TSEN54 gene revealed missense mutation of Ala307Ser. A novel sequence variant, designated c.17_40 del, was also found and was predictive of an in-frame deletion of eight amino acids. Follow-up over 2 years revealed intractable epileptic spasms, progressive microcephaly and development of prominent choreoathetosis. Conclusion: This case report describes a rare case of PCH with overlapping features of the less severe PCH2 and the more severe PCH4/5 phenotype. It also adds another new entity in the list of genetic conditions where West syndrome and pontocerebellar hypoplasia can be seen together, emphasizing the need for further investigations of the genotype-phenotype correlation of mutations in order to advance our understanding of the pathophysiologic mechanism in these rare conditions. PMID:27570394

  16. Acute Aortic Dissection Extending Into the Lung.

    PubMed

    Makdisi, George; Said, Sameh M; Schaff, Hartzell V

    2015-07-01

    The radiologic manifestations of ruptured acute aortic dissection, Stanford type A aortic dissection, DeBakey type 1 can present in different radiographic scenarios with devastating outcomes. Here, we present a rare case of a 70-year-old man who presented to the emergency department with chest pain radiating to the back. A chest computed tomography scan showed a Stanford type A, DeBakey type 1, acute aortic dissection ruptured into the aortopulmonary window and stenosing the pulmonary trunk, both main pulmonary arteries, and dissecting the bronchovascular sheaths and flow into the pulmonary interstitium, causing pulmonary interstitial hemorrhage. The patient underwent emergent ascending aorta replacement with hemiarch replacement with circulatory arrest. The postoperative course was unremarkable. PMID:26140779

  17. Surgical Aortic Valvuloplasty Versus Balloon Aortic Valve Dilatation in Children.

    PubMed

    Donald, Julia S; Konstantinov, Igor E

    2016-09-01

    Balloon aortic valve dilatation (BAD : is assumed to provide the same outcomes as surgical aortic valvuloplasty (SAV). However, the development of precise modern surgical valvuloplasty techniques may result in better long-term durability of the aortic valve repair. This review of the recent literature suggests that current SAV provides a safe and durable repair. Furthermore, primary SAV appears to have greater freedom from reintervention and aortic valve replacement when compared to BAD. PMID:27587493

  18. Aortic regurgitation after transcatheter aortic valve replacement.

    PubMed

    Werner, Nikos; Sinning, Jan-Malte

    2014-01-01

    Paravalvular aortic regurgitation (AR) negatively affects prognosis following transcatheter aortic valve replacement (TAVR). As transcatheter heart valves (THV) are anchored using a certain degree of oversizing at the level of the aortic annulus, incomplete stent frame expansion because of heavily annular calcifications, suboptimal placement of the prosthesis, and/or annulus-prosthesis size-mismatch can contribute to paravalvular AR with subsequent increased mortality risk. Echocardiography is essential to differentiate between transvalvular and paravalvular AR and to further elucidate the etiology of AR during the procedure. However, because echocardiographic quantification of AR in TAVR patients remains challenging, especially in the implantation situation, a multimodal approach to the evaluation of AR with use of hemodynamic measurements and imaging modalities is useful to precisely quantify the severity of AR immediately after valve deployment. "Next-generation" THVs are already on the market and first results show that paravalvular AR related to design modifications (eg, paravalvular space-fillers, full repositionability) are rarely seen in these valve types.  PMID:24632758

  19. State-of-the-art aortic imaging: Part II - applications in transcatheter aortic valve replacement and endovascular aortic aneurysm repair.

    PubMed

    Rengier, Fabian; Geisbüsch, Philipp; Schoenhagen, Paul; Müller-Eschner, Matthias; Vosshenrich, Rolf; Karmonik, Christof; von Tengg-Kobligk, Hendrik; Partovi, Sasan

    2014-01-01

    Transcatheter aortic valve replacement (TAVR) as well as thoracic and abdominal endovascular aortic repair (TEVAR and EVAR) rely on accurate pre- and postprocedural imaging. This review article discusses the application of imaging, including preprocedural assessment and measurements as well as postprocedural imaging of complications. Furthermore, the exciting perspective of computational fluid dynamics (CFD) based on cross-sectional imaging is presented. TAVR is a minimally invasive alternative for treatment of aortic valve stenosis in patients with high age and multiple comorbidities who cannot undergo traditional open surgical repair. Given the lack of direct visualization during the procedure, pre- and peri-procedural imaging forms an essential part of the intervention. Computed tomography angiography (CTA) is the imaging modality of choice for preprocedural planning. Routine postprocedural follow-up is performed by echocardiography to confirm treatment success and detect complications. EVAR and TEVAR are minimally invasive alternatives to open surgical repair of aortic pathologies. CTA constitutes the preferred imaging modality for both preoperative planning and postoperative follow-up including detection of endoleaks. Magnetic resonance imaging is an excellent alternative to CT for postoperative follow-up, and is especially beneficial for younger patients given the lack of radiation. Ultrasound is applied in screening and postoperative follow-up of abdominal aortic aneurysms, but cross-sectional imaging is required once abnormalities are detected. Contrast-enhanced ultrasound may be as sensitive as CTA in detecting endoleaks. PMID:24429327

  20. Aortic aneurysm repair - endovascular- discharge

    MedlinePlus

    ... page: //medlineplus.gov/ency/patientinstructions/000236.htm Aortic aneurysm repair - endovascular - discharge To use the sharing features ... enable JavaScript. AAA repair - endovascular - discharge; Repair - aortic aneurysm - endovascular - discharge; EVAR - discharge; Endovascular aneurysm repair - discharge ...

  1. Screening for Abdominal Aortic Aneurysm

    MedlinePlus

    Understanding Task Force Recommendations Screening for Abdominal Aortic Aneurysm The U.S. Preventive Services Task Force (Task Force) ... final recommendation statement on Screening for Abdominal Aortic Aneurysm. This final recommendation statement applies to adults ages ...

  2. Abdominal aortic feminism.

    PubMed

    Mortimer, Alice Emily

    2014-01-01

    A 79-year-old woman presented to a private medical practice 2 years previously for an elective ultrasound screening scan. This imaging provided the evidence for a diagnosis of an abdominal aortic aneurysm (AAA) to be made. Despite having a number of recognised risk factors for an AAA, her general practitioner at the time did not follow the guidance set out by the private medical professional, that is, to refer the patient to a vascular specialist to be entered into a surveillance programme and surgically evaluated. The patient became symptomatic with her AAA, was admitted to hospital and found to have a tender, symptomatic, 6 cm leaking AAA. She consented for an emergency open AAA repair within a few hours of being admitted to hospital, despite the 50% perioperative mortality risk. The patient spent 4 days in intensive care where she recovered well. She was discharged after a 12 day hospital stay but unfortunately passed away shortly after her discharge from a previously undiagnosed gastric cancer. PMID:25398912

  3. Aneurysms: thoracic aortic aneurysms.

    PubMed

    Chun, Kevin C; Lee, Eugene S

    2015-04-01

    Thoracic aortic aneurysms (TAAs) have many possible etiologies, including congenital heart defects (eg, bicuspid aortic valves, coarctation of the aorta), inherited connective tissue disorders (eg, Marfan, Ehlers-Danlos, Loeys-Dietz syndromes), and degenerative conditions (eg, medial necrosis, atherosclerosis of the aortic wall). Symptoms of rupture include a severe tearing pain in the chest, back, or neck, sometimes associated with cardiovascular collapse. Before rupture, TAAs may exert pressure on other thoracic structures, leading to a variety of symptoms. However, most TAAs are asymptomatic and are found incidentally during imaging for other conditions. Diagnosis is confirmed with computed tomography scan or echocardiography. Asymptomatic TAAs should be monitored with imaging at specified intervals and patients referred for repair if the TAAs are enlarging rapidly (greater than 0.5 cm in diameter over 6 months for heritable etiologies; greater than 0.5 cm over 1 year for degenerative etiologies) or reach a critical aortic diameter threshold for elective surgery (5.5 cm for TAAs due to degenerative etiologies, 5.0 cm when associated with inherited syndromes). Open surgery is used most often to treat asymptomatic TAAs in the ascending aorta and aortic arch. Asymptomatic TAAs in the descending aorta often are treated medically with aggressive blood pressure control, though recent data suggest that endovascular procedures may result in better long-term survival rates. PMID:25860136

  4. [Thoracoabdominal aortic aneurysm].

    PubMed

    Kalder, J; Kotelis, D; Jacobs, M J

    2016-09-01

    Thoracoabdominal aortic aneurysms (TAAA) are rare events with an incidence of 5.9 cases per 100,000 persons per year. In Germany approximately 940 TAAA procedures are performed annually. The cause of TAAA is mostly degenerative but they can also occur on the basis of an aortic dissection or connective tissue disease (e. g. Marfan's syndrome). Patients often have severe comorbidities and suffer from hypertension, coronary heart disease or chronic obstructive pulmonary disease, mostly as a result of smoking. Operative treatment is indicated when the maximum aortic diameter has reached 6 cm (> 5 cm in patients with connective tissue disease) or the aortic diameter rapidly increases (> 5 mm/year). Treatment options are open surgical aortic repair with extracorporeal circulation, endovascular repair with branched/fenestrated endografts and parallel grafts (chimneys) or a combination of open and endovascular procedures (hybrid procedures). Mortality rates after both open and endovascular procedures are approximately 8 % depending on the extent of the repair. Furthermore, there are relevant risks of complications, such as paraplegia (up to 20 %) and the necessity for dialysis. In recent years several approaches to minimize these risks have been proposed. Besides cardiopulmonary risk evaluation, clinical assessment of patients by the physician with respect to the patient-specific anatomy influences the allocation of patients to one treatment option or another. Surgery of TAAA should ideally be performed in high-volume centers in order to achieve better results. PMID:27558261

  5. Hybrid treatment of aortic arch disease

    PubMed Central

    Metzger, Patrick Bastos; Rossi, Fabio Henrique; Moreira, Samuel Martins; Issa, Mario; Izukawa, Nilo Mitsuru; Dinkhuysen, Jarbas J.; Spina Neto, Domingos; Kambara, Antônio Massamitsu

    2014-01-01

    Introduction The management of thoracic aortic disease involving the ascending aorta, aortic arch and descending thoracic aorta are technically challenging and is an area in constant development and innovation. Objective To analyze early and midterm results of hybrid treatment of arch aortic disease. Methods Retrospective study of procedures performed from January 2010 to December 2012. The end points were the technical success, therapeutic success, morbidity and mortality, neurologic outcomes, the rate of endoleaks and reinterventions. Results A total of 95 patients treated for thoracic aortic diseases in this period, 18 underwent hybrid treatment and entered in this study. The average ages were 62.3 years. The male was present in 66.7%. The technical and therapeutic success was 94.5% e 83.3%. The perioperative mortality rate of 11.1%. There is any death during one-year follow- up. The reoperation rates were 16.6% due 2 cases of endoleak Ia and one case of endoleak II. There is any occlusion of anatomic or extra anatomic bypass during follow up. Conclusion In our study, the hybrid treatment of aortic arch disease proved to be a feasible alternative of conventional surgery. The therapeutic success rates and re- interventions obtained demonstrate the necessity of thorough clinical follow-up of these patients in a long time. PMID:25714205

  6. Turner's tooth with unique radiographic presentation: a case report.

    PubMed

    Lakshman, Anusha Rangare; Kanneppady, Sham Kishor; Castelino, Renita Lorina

    2014-01-01

    Hypoplasia--the result of a disruption in the enamel matrix formation process--causes a defect in the quality and thickness of enamel. Enamel formation is a complex and highly regulated process. Enamel defects have been associated with a broad spectrum of etiologies, including genetic, epigenetic, systemic, local, and environmental factors. An enamel defect in the permanent teeth caused by periapical inflammatory disease in the overlying primary tooth is referred to as Turner's tooth (also known as Turner's hypoplasia). This article presents a case of Turner's hypoplasia of the first mandibular premolar, with an unusual radiographic presentation. PMID:25184717

  7. Transcatheter Aortic Valve Implantation.

    PubMed

    Malaisrie, S Chris; Iddriss, Adam; Flaherty, James D; Churyla, Andrei

    2016-05-01

    Severe aortic stenosis (AS) is a life-threatening condition when left untreated. Aortic valve replacement (AVR) is the gold standard treatment for the majority of patients; however, transcatheter aortic valve implantation/replacement (TAVI/TAVR) has emerged as the preferred treatment for high-risk or inoperable patients. The concept of transcatheter heart valves originated in the 1960s and has evolved into the current Edwards Sapien and Medtronic CoreValve platforms available for clinical use. Complications following TAVI, including cerebrovascular events, perivalvular regurgitation, vascular injury, and heart block have decreased with experience and evolving technology, such that ongoing trials studying TAVI in lower risk patients have become tenable. The multidisciplinary team involving the cardiac surgeon and cardiologist plays an essential role in patient selection, procedural conduct, and perioperative care. PMID:27021619

  8. Delayed aortic rupture resulting from postoperative superficial sternal wound infection

    PubMed Central

    Kim, Su Wan; Chang, Jee Won

    2016-01-01

    While deep sternal wound infection (DSWI) after cardiac surgery is a significant contributor to patient morbidity and mortality, superficial sternal wound infection (SSWI) mostly has a benign course. We report a mortality case of aortic rupture resulting from SSWI after cardiac surgery. A 50-year-old male underwent an aortic valve replacement (AVR). Three months after the valve operation, he presented with severe dyspnea, which had never before been observed, and chest computed tomography revealed an ascending aortic rupture with large hematoma compressing the main pulmonary artery. We performed an emergent operation for aortic rupture that possibly originated from the SSWI. Postoperatively, the patient died of hypovolemic shock due to recurrent aortic rupture despite efforts to resuscitate him. PMID:27499988

  9. A case of neonatal arterial thrombosis mimicking interrupted aortic arch

    PubMed Central

    Gürsu, Hazım Alper; Varan, Birgül; Oktay, Ayla; Özkan, Murat

    2015-01-01

    Neonatal arterial thrombosis is a very rare entity with clinical findings resembling coarctation of aorta or interrupted aortic arch. A two day-old male newborn was admitted to a different hospital with difficulty in sucking and sleepiness. On echocardiographic examination, a diagnosis of interrupted aortic arch was made and he was treated with prostoglandin E2. When the patient presented to our center, physical examination revealed that his feet were bilaterally cold. The pulses were not palpable and there were ecchymotic regions in the lower extremities. Echocardiography ruled out interrupted aortic arch. Computerized tomographic angiography revealed a large thrombosis and total occlusion of the abdominal aorta. Since there was no response to treatment with tissue plasminogen activator, we performed thrombectomy. Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient. Neonatal aortic thrombosis which is observed very rarely and fatal should be considered in the differential diagnosis of coarctation of aorta and interrupted aortic arch. PMID:26265897

  10. Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

    PubMed

    Coad, J E; Angel, C; Pierpont, M E; Gorlin, R J; Anderson, M L

    1997-09-01

    We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia, arthrogryposis without muscle wasting, cortical thumbs, rocker-bottom feet, scoliosis, single umbilical artery, and hypospadias with chordee. Oligohydramnios was present prenatally. Neurologic examination showed a comatose state, seizures, minimal spontaneous movement, minimal response to pain, and absent primitive reflexes. At autopsy, hypoplasia of kidneys and adrenal glands was found. There was no aqueductal stenosis or pulmonary hypoplasia. Chromosomes were apparently normal. These manifestations do not correspond to those of any recognized syndrome; therefore, this patient may represent a previously undefined syndrome. PMID:9286455

  11. Abdominal Aortic Aneurysms

    PubMed Central

    Fortner, George; Johansen, Kaj

    1984-01-01

    Aneurysms are common in our increasingly elderly population, and are a major threat to life and limb. Until the advent of vascular reconstructive techniques, aneurysm patients were subject to an overwhelming risk of death from exsanguination. The first successful repair of an abdominal aortic aneurysm using an interposed arterial homograft was reported by Dubost in 1952. A milestone in the evolution of vascular surgery, this event and subsequent diagnostic, operative and prosthetic graft refinements have permitted patients with an unruptured abdominal aortic aneurysm to enjoy a better prognosis than patients with almost any other form of major systemic illness. Images PMID:6702193

  12. A Modified Epicardial Radiofrequency Ablation for Preoperative Atrial Fibrillation Combined With Isolated Aortic Valve Disease.

    PubMed

    Jiang, Zhaolei; Ma, Nan; Liu, Hao; Tang, Min; Ding, Fangbao; Bao, Chunrong; Mei, Ju

    2016-06-01

    Isolated aortic valve diseases can lead to atrial fibrillation (AF) by causing left atrium pressure overload and enlargement. At present, most patients with preoperative AF and isolated aortic valve disease have undergone a Cox-maze IV procedure through a left atriotomy under cardiopulmonary bypass with aortic cross-clamping. Here, we describe a novel modified epicardial radiofrequency ablation procedure performed on a beating heart without aortic cross-clamping or opening the left atrium. This technique has proved to be safe and feasible, with good clinical outcomes. It may be useful in selecting the best ablation approaches for patients with AF and aortic valve disease. PMID:27211963

  13. Endovascular Repair of an Anastomotic Leak Following Open Repair of Abdominal Aortic Aneurysm

    SciTech Connect

    Mofidi, R. Flett, M.; Milne, A.; Chakraverty, S.

    2007-09-15

    This report describes the case of an early postoperative anastomotic leak following elective open repair of an infrarenal abdominal aortic aneurysm which was successfully treated by endovascular stent-grafting. A 71-year-old man underwent open tube graft repair of abdominal aortic aneurysm. Twelve days later he presented with a contained leak from the distal anastomosis, which was confirmed on CT scan. This was successfully treated with a bifurcated aortic stent-graft. This case illustrates the usefulness of the endovascular approach for resolving this rare surgical complication of open repair of abdominal aortic aneurysm and the challenges associated with the deployment of such a device within an aortic tube graft.

  14. Mitral and aortic regurgitation following transcatheter aortic valve replacement

    PubMed Central

    Szymański, Piotr; Hryniewiecki, Tomasz; Dąbrowski, Maciej; Sorysz, Danuta; Kochman, Janusz; Jastrzębski, Jan; Kukulski, Tomasz; Zembala, Marian

    2016-01-01

    Objective To analyse the impact of postprocedural mitral regurgitation (MR), in an interaction with aortic regurgitation (AR), on mortality following transcatheter aortic valve implantation (TAVI). Methods To assess the interaction between MR and AR, we compared the survival rate of patients (i) without both significant MR and AR versus (ii) those with either significant MR or significant AR versus (iii) with significant MR and AR, all postprocedure. 381 participants of the Polish Transcatheter Aortic Valve Implantation Registry (166 males (43.6%) and 215 females (56.4%), age 78.8±7.4 years) were analysed. Follow-up was 94.1±96.5 days. Results Inhospital and midterm mortality were 6.6% and 10.2%, respectively. Significant MR and AR were present in 16% and 8.1% patients, including 3.1% patients with both significant MR and AR. Patients with significant versus insignificant AR differed with respect to mortality (log rank p=0.009). This difference was not apparent in a subgroup of patients without significant MR (log rank p=0.80). In a subgroup of patients without significant AR, there were no significant differences in mortality between individuals with versus without significant MR (log rank p=0.44). Significant MR and AR had a significant impact on mortality only when associated with each other (log rank p<0.0001). At multivariate Cox regression modelling concomitant significant MR and AR were independently associated with mortality (OR 3.2, 95% CI 1.54 to 5.71, p=0.002). Conclusions Significant MR or AR postprocedure, when isolated, had no impact on survival. Combined MR and AR had a significant impact on a patient's prognosis. PMID:26908096

  15. Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia

    PubMed Central

    Tarui, Tomo; Limperopoulos, Catherine; Sullivan, Nancy R; Robertson, Richard L; du Plessis, Adre J

    2015-01-01

    Objectives Isolated inferior vermian hypoplasia (iiVH) is one of the most common fetal cerebellar anomalies presenting for fetal neurological counselling with controversial postnatal neurodevelopmental outcome. In the present study, we characterised the long-term neurodevelopmental outcome of prenatally diagnosed iiVH at school age. Design and patients We prospectively followed 20 children with fetal MRI diagnosis of iiVH including their postnatal MRI result and developmental outcome at school age (mean 6.1 years±1.9 years SD) using a comprehensive age-appropriate developmental testing battery, which encompassed cognitive, language, social and behavioural domains. Parental stress level and socioeconomic status were also evaluated. Results All children with postnatally confirmed iiVH had a normal neurodevelopmental outcome. A subgroup of children (2/20) who demonstrated cognitive delays and behavioural impairments had more extensive cerebellar malformation. Despite a normal developmental outcome, the parents of children with postnatally confirmed iiVH had higher parental stress compared with those parents whose children had normal postnatal MRI. Conclusions Children with postnatally confirmed iiVH show age appropriate functioning at school age. Postnatal MRI is important to confirm the diagnosis of iiVH and to exclude associated anomalies that impact neurodevelopmental outcome. A diagnosis of iiVH is associated with persistent elevated parental stress despite normal developmental outcomes in these children suggesting the need for ongoing parental support. PMID:23964086

  16. Aortic Input Impedance during Nitroprusside Infusion

    PubMed Central

    Pepine, Carl J.; Nichols, W. W.; Curry, R. C.; Conti, C. Richard

    1979-01-01

    Beneficial effects of nitroprusside infusion in heart failure are purportedly a result of decreased afterload through “impedance” reduction. To study the effect of nitroprusside on vascular factors that determine the total load opposing left ventricular ejection, the total aortic input impedance spectrum was examined in 12 patients with heart failure (cardiac index <2.0 liters/min per m2 and left ventricular end diastolic pressure >20 mm Hg). This input impedance spectrum expresses both mean flow (resistance) and pulsatile flow (compliance and wave reflections) components of vascular load. Aortic root blood flow velocity and pressure were recorded continuously with a catheter-tip electromagnetic velocity probe in addition to left ventricular pressure. Small doses of nitroprusside (9-19 μg/min) altered the total aortic input impedance spectrum as significant (P < 0.05) reductions in both mean and pulsatile components were observed within 60-90 s. With these acute changes in vascular load, left ventricular end diastolic pressure declined (44%) and stroke volume increased (20%, both P < 0.05). Larger nitroprusside doses (20-38 μg/min) caused additional alteration in the aortic input impedance spectrum with further reduction in left ventricular end diastolic pressure and increase in stroke volume but no additional changes in the impedance spectrum or stroke volume occurred with 39-77 μg/min. Improved ventricular function persisted when aortic pressure was restored to control values with simultaneous phenylephrine infusion in three patients. These data indicate that nitroprusside acutely alters both the mean and pulsatile components of vascular load to effect improvement in ventricular function in patients with heart failure. The evidence presented suggests that it may be possible to reduce vascular load and improve ventricular function independent of aortic pressure reduction. PMID:457874

  17. Molecular mechanisms underlying the onset of degenerative aortic valve disease.

    PubMed

    Hakuno, Daihiko; Kimura, Naritaka; Yoshioka, Masatoyo; Fukuda, Keiichi

    2009-01-01

    Morbidity from degenerative aortic valve disease is increasing worldwide, concomitant with the ageing of the general population and the habitual consumption of diets high in calories and cholesterol. Immunohistologic studies have suggested that the molecular mechanism occurring in the degenerate aortic valve resembles that of atherosclerosis, prompting the testing of HMG CoA reductase inhibitors (statins) for the prevention of progression of native and bioprosthetic aortic valve degeneration. However, the effects of these therapies remain controversial. Although the molecular mechanisms underlying the onset of aortic valve degeneration are largely unknown, research in this area is advancing rapidly. The signaling components involved in embryonic valvulogenesis, such as Wnt, TGF-beta(1), BMP, and Notch, are also involved in the onset of aortic valve degeneration. Furthermore, investigations into extracellular matrix remodeling, angiogenesis, and osteogenesis in the aortic valve have been reported. Having noted avascularity of normal cardiac valves, we recently identified chondromodulin-I (chm-I) as a crucial anti-angiogenic factor. The expression of chm-I is restricted to cardiac valves from late embryogenesis to adulthood in the mouse, rat, and human. In human degenerate atherosclerotic valves, the expression of vascular endothelial growth factor (VEGF) and matrix metalloproteinases and angiogenesis is observed in the area of chm-I downregulation. Gene targeting of chm-I resulted in VEGF expression, angiogenesis, and calcification in the aortic valves of aged mice, and aortic stenosis is detected by echocardiography, indicating that chm-I is a crucial factor for maintaining normal cardiac valvular function by preventing angiogenesis. The present review focuses on the animal models of aortic valve degeneration and recent studies on the molecular mechanisms underlying the onset of degenerative aortic valve disease. PMID:18766323

  18. Critical Transitions in Early Embryonic Aortic Arch Patterning and Hemodynamics

    PubMed Central

    Kowalski, William J.; Dur, Onur; Wang, Yajuan; Patrick, Michael J.; Tinney, Joseph P.; Keller, Bradley B.; Pekkan, Kerem

    2013-01-01

    Transformation from the bilaterally symmetric embryonic aortic arches to the mature great vessels is a complex morphogenetic process, requiring both vasculogenic and angiogenic mechanisms. Early aortic arch development occurs simultaneously with rapid changes in pulsatile blood flow, ventricular function, and downstream impedance in both invertebrate and vertebrate species. These dynamic biomechanical environmental landscapes provide critical epigenetic cues for vascular growth and remodeling. In our previous work, we examined hemodynamic loading and aortic arch growth in the chick embryo at Hamburger-Hamilton stages 18 and 24. We provided the first quantitative correlation between wall shear stress (WSS) and aortic arch diameter in the developing embryo, and observed that these two stages contained different aortic arch patterns with no inter-embryo variation. In the present study, we investigate these biomechanical events in the intermediate stage 21 to determine insights into this critical transition. We performed fluorescent dye microinjections to identify aortic arch patterns and measured diameters using both injection recordings and high-resolution optical coherence tomography. Flow and WSS were quantified with 3D computational fluid dynamics (CFD). Dye injections revealed that the transition in aortic arch pattern is not a uniform process and multiple configurations were documented at stage 21. CFD analysis showed that WSS is substantially elevated compared to both the previous (stage 18) and subsequent (stage 24) developmental time-points. These results demonstrate that acute increases in WSS are followed by a period of vascular remodeling to restore normative hemodynamic loading. Fluctuations in blood flow are one possible mechanism that impacts the timing of events such as aortic arch regression and generation, leading to the variable configurations at stage 21. Aortic arch variations noted during normal rapid vascular remodeling at stage 21 identify a

  19. Fatal Saccharomyces Cerevisiae Aortic Graft Infection

    NASA Technical Reports Server (NTRS)

    Meyer, Michael (Technical Monitor); Smith, Davey; Metzgar, David; Wills, Christopher; Fierer, Joshua

    2002-01-01

    Saccharomyces cerevisiae is a yeast commonly used in baking and a frequent colonizer of human mucosal surfaces. It is considered relatively nonpathogenic in immunocompetent adults. We present a case of S. cerevisiae fungemia and aortic graft infection in an immunocompetent adult. This is the first reported case of S. cerevisiue fungemia where the identity of the pathogen was confirmed by rRNA sequencing.

  20. Bicuspid aortic valve

    MedlinePlus

    ... is unclear, but it is the most common congenital heart disease . It often runs in families. The bicuspid aortic ... A.M. Editorial team. Related MedlinePlus Health Topics Congenital Heart Defects Heart Valve Diseases Browse the Encyclopedia A.D.A.M., Inc. ...

  1. Bilateral ostial coronary stenosis and rheumatic aortic valve stenosis.

    PubMed

    Sorokin, Alexeyi; Weich, Hellmuth; Doubell, Anton; Moolman, Johannes A

    2006-01-01

    A 49-year-old patient presented with angina pectoris and clinical findings of aortic valve stenosis and regurgitation. Rheumatic aortic valve stenosis and regurgitation was diagnosed on echocardiography. Coronary angiography findings showed severe calcification in the aorta root with right coronary ostial occlusion, and were suggestive of left main ostial stenosis and proximal main stem stenosis, which was confirmed on CT angiography. Curvilinear calcification of the aorta was present on CT angiography. The findings suggested syphilitic aortitis. Syphilis serology was positive (RPR titre 1/16). The angina was caused by severe coronary ostial disease likely due to syphilitic aortitis and exacerbated by the rheumatic aortic valve stenosis and regurgitation. PMID:16885079

  2. Aortic valve annuloplasty: new single suture technique.

    PubMed

    Schöllhorn, Joachim; Rylski, Bartosz; Beyersdorf, Friedhelm

    2014-06-01

    Reconstruction strategies for aortic valve insufficiency in the presence of aortic annulus dilatation are usually surgically challenging. We demonstrate a simple, modified Taylor technique of downsizing and stabilization of the aortic annulus using a single internal base suture. Since April 2011, 22 consecutive patients have undergone safe aortic valve annuloplasty. No reoperations for aortic valve insufficiency and no deaths occurred. PMID:24882316

  3. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

    PubMed Central

    Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W.

    2015-01-01

    Abstract Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations who presented perinatally with neurologic features typical of PCH6 but with additional features including cardiomyopathy, hydrops, and pulmonary hypoplasia and who died at 1 day and 14 days of age. Magnetic resonance imaging findings included marked cerebellar hypoplasia, gyral immaturity, punctate lesions in cerebral white matter, and unfused deep cerebral grey matter. Enzyme histochemistry of postmortem tissues revealed a near-global cytochrome c oxidase-deficiency; assessment of respiratory chain enzyme activities confirmed severe deficiencies involving complexes I, III, and IV. Molecular genetic studies revealed 2 RARS2 gene mutations: a c.1A>G, p.? variant predicted to abolish the initiator methionine, and a deep intronic c.613-3927C>T variant causing skipping of exons 6–8 in the mature RARS2 transcript. Neuropathologic investigation included low brain weights, small brainstem and cerebellum, deep cerebral white matter pathology, pontine nucleus neuron loss (in 1 sibling), and peripheral nerve pathology. Mitochondrial respiratory chain immunohistochemistry in brain tissues confirmed an absence of complexes I and IV immunoreactivity with sparing of mitochondrial numbers. These cases expand the clinical spectrum of RARS2 mutations, including antenatal features and widespread mitochondrial respiratory chain deficiencies in postmortem brain tissues. PMID:26083569

  4. Seeing the invisible: painless aortic dissection in the emergency setting.

    PubMed

    Ayrik, C; Cece, H; Aslan, O; Karcioglu, O; Yilmaz, E

    2006-03-01

    Acute dissection of the aorta can be one of the most dramatic cardiovascular emergencies. Classically, aortic dissection presents as sudden, severe chest, back, or abdominal pain that is characterised as ripping or tearing in nature. However, a timely diagnosis can be elusive in the event of an atypical presentation. In this report, the authors present two patients with painless aortic dissection who were misdiagnosed during their initial evaluation in the emergency department. PMID:16498148

  5. Seeing the invisible: painless aortic dissection in the emergency setting

    PubMed Central

    Ayrik, C; Cece, H; Aslan, O; Karcioglu, O; Yilmaz, E

    2006-01-01

    Acute dissection of the aorta can be one of the most dramatic cardiovascular emergencies. Classically, aortic dissection presents as sudden, severe chest, back, or abdominal pain that is characterised as ripping or tearing in nature. However, a timely diagnosis can be elusive in the event of an atypical presentation. In this report, the authors present two patients with painless aortic dissection who were misdiagnosed during their initial evaluation in the emergency department. PMID:16498148

  6. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    PubMed

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning. PMID:15386251

  7. Missing defects? A comparison of microscopic and macroscopic approaches to identifying linear enamel hypoplasia.

    PubMed

    Hassett, Brenna R

    2014-03-01

    Linear enamel hypoplasia (LEH), the presence of linear defects of dental enamel formed during periods of growth disruption, is frequently analyzed in physical anthropology as evidence for childhood health in the past. However, a wide variety of methods for identifying and interpreting these defects in archaeological remains exists, preventing easy cross-comparison of results from disparate studies. This article compares a standard approach to identifying LEH using the naked eye to the evidence of growth disruption observed microscopically from the enamel surface. This comparison demonstrates that what is interpreted as evidence of growth disruption microscopically is not uniformly identified with the naked eye, and provides a reference for the level of consistency between the number and timing of defects identified using microscopic versus macroscopic approaches. This is done for different tooth types using a large sample of unworn permanent teeth drawn from several post-medieval London burial assemblages. The resulting schematic diagrams showing where macroscopic methods achieve more or less similar results to microscopic methods are presented here and clearly demonstrate that "naked-eye" methods of identifying growth disruptions do not identify LEH as often as microscopic methods in areas where perikymata are more densely packed. PMID:24323494

  8. Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia

    PubMed Central

    Fertuzinhos, Sofia; Krsnik, Željka; Kawasawa, Yuka Imamura; Rašin, Mladen-Roko; Kwan, Kenneth Y.; Chen, Jie-Guang; Judaš, Miloš; Hayashi, Masaharu; Šestan, Nenad

    2009-01-01

    Cortical excitatory glutamatergic projection neurons and inhibitory GABAergic interneurons follow substantially different developmental programs. In rodents, projection neurons originate from progenitors within the dorsal forebrain, whereas interneurons arise from progenitors in the ventral forebrain. In contrast, it has been proposed that in humans, the majority of cortical interneurons arise from progenitors within the dorsal forebrain, suggesting that their origin and migration is complex and evolutionarily divergent. However, whether molecularly defined human cortical interneuron subtypes originate from distinct progenitors, including those in the ventral forebrain, remains unknown. Furthermore, abnormalities in cortical interneurons have been linked to human disorders, yet no distinct cell population selective loss has been reported. Here we show that cortical interneurons expressing nitric oxide synthase 1, neuropeptide Y, and somatostatin, are either absent or substantially reduced in fetal and infant cases of human holoprosencephaly (HPE) with severe ventral forebrain hypoplasia. Notably, another interneuron subtype normally abundant from the early fetal period, marked by calretinin expression, and different subtypes of projection neuron were present in the cortex of control and HPE brains. These findings have important implications for the understanding of neuronal pathogenesis underlying the clinical manifestations associated with HPE and the developmental origins of human cortical interneuron diversity. PMID:19234067

  9. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

    PubMed

    Motil, Kathleen J; Fete, Mary; Fete, Timothy J

    2016-03-01

    Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), and BMI (P < 0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder. PMID:27001925

  10. Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia

    PubMed Central

    Karahan, Eyyup; Tulin Berk, Ayse

    2016-01-01

    Aim: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. Method: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1.0 or inadequate central steady maintained fixation. Results: Thirty (56.6%) of the 53 children with ONH were boys. Mean age at presentation was 56.2±46.8 months (range; 3 months to 18 years). Poor vision defined for the purpose of this study was found in 47.2% of 53 patients. Thirty-three (62.3%) children had nystagmus. Thirty-four (64.2%) children had strabismus. Thirteen (38.2%) of those with strabismus had esotropia, 20 (58.8%) had exotropia. The total number of the children with neurodevelopmental deficit was 22 (41.5%) in our study. Conclusion: The vision of young children with ONH should be monitored at least annually, and any refractive errors should be treated. Neuroimaging of the brain and endocrinologic evaluation is necessary in all cases with ONH. PMID:27014380

  11. Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.

    PubMed

    Obara-Moszynska, Monika; Wielanowska, Weronika; Rojek, Aleksandra; Wolnik-Brzozowska, Danuta; Niedziela, Marek

    2013-12-01

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder characterized by short stature, hypoplastic hair and humoral immunity disorders. It is a mutation in the RMRP gene, located on chromosome 9p13.3, that leads to CHH. There is no special treatment for short stature in CHH. The efficacy and safety of recombinant human growth hormone (rhGH) therapy in CHH is still under discussion. The present study describes the case of a girl with CHH who was treated with rhGH. The rhGH treatment had a significant effect on the height gain: the height SD score was changed from -4. to -2.98 after 4 years 7 months of treatment. rhGH therapy should be considered as a treatment modality for CHH, and insulin-like growth factor (IGF)-1 and IGF-binding protein 3 concentrations should be closely monitored, particularly because of the increased cancer risk that is a characteristic feature of CHH. PMID:24330304

  12. Advances in the Treatment of Syndromic Midface Hypoplasia Using Monobloc and Facial Bipartition Distraction Osteogenesis

    PubMed Central

    Kumar, Anand R.; Steinbacher, Derek

    2014-01-01

    Midface hypoplasia or retrusion remains a persistent feature of syndromic craniosynostosis years after successful treatment of the cranium. Although expansion of the cranial vault in infancy by traditional fronto-orbital advancement, posterior expansion, or both, can treat the immediate intracranial constriction, midface hypoplasia and its stigmata of exorbitism, sleep apnea, central face concavity, and malocclusion remain suboptimally treated. Initial enthusiasm for the procedures was tempered due to a high rate of infectious complications; timing and indications for surgery continue to stir controversy. During the last decade renewed interest with the monobloc and facial bipartition procedure using distraction osteogenesis with either an internal or external distraction system has decreased morbidity significantly. These procedures have re-emerged as powerful and comprehensive tools in the treatment of syndromic midface hypoplasia. PMID:26417208

  13. Recent advances in aortic valve disease: highlights from a bicuspid aortic valve to transcatheter aortic valve replacement.

    PubMed

    Augoustides, John G T; Wolfe, Yanika; Walsh, Elizabeth K; Szeto, Wilson Y

    2009-08-01

    There have been major advances in the management of aortic valve disease. Because bicuspid aortic valve is common and predicts an increased risk of adverse aortic events, these patients merit aortic surveillance and consideration for ascending aortic replacement when its diameter exceeds 4.0 cm. Serial quantitative echocardiographic analysis, as compared with traditional clinical markers, can result in better timing of surgical intervention for aortic regurgitation. Furthermore, echocardiographic analysis of aortic regurgitation can classify the mechanism based on cusp mobility to guide aortic valve repair. In aortic root replacement, aortic valve preservation with reimplantation is a mainstream surgical option in Marfan syndrome to offer freedom from valve-related anticoagulation. Prosthetic aortic root replacement has further alternatives with the introduction of the aortic neosinus design and acceptable clinical outcomes with the porcine xenograft. Because aortic valve prosthesis-patient mismatch (PPM) may adversely affect patient outcome, its perioperative prevention is important. Furthermore, significant functional mitral regurgitation in association with aortic stenosis often resolves after aortic valve replacement. Echocardiographic assessment of the aortic valve must include valve area because the transaortic pressure gradient may be low in severe stenosis. Aortic valve replacement with partial sternotomy is safe and offers a reasonable less invasive alternative. Transcatheter aortic valve replacement, whether transfemoral or transapical, has revolutionized aortic valve replacement; it remains a major theme in the specialty for 2009 and beyond. PMID:19497768

  14. Dependence of aortic arch morphogenesis on intracardiac blood flow in the left atrial ligated chick embryo.

    PubMed

    Hu, Norman; Christensen, Douglas A; Agrawal, Amit K; Beaumont, Charity; Clark, Edward B; Hawkins, John A

    2009-05-01

    Partial left atrial ligation before cardiac septation redistributes intracardiac blood flow and produces left ventricular hypoplasia in the chick. We hypothesized that redistributed intracardiac blood flow adversely alters aortic arch development. We ligated the left atrial appendage with a 10-0 nylon suture at stage 21 chick embryos, then reincubated up to stage 34. Sham embryos had a suture tied adjacent to the atrial wall, and normal controls were unoperated. We measured simultaneous atrioventricular (AV) and dorsal aortic (DAo) blood velocities from stage 24 embryos with an ultrasound pulsed-Doppler flow meter; and the left and right third and fourth aortic arch blood flow with a laser-Doppler flow meter. Ventricular and atrial cross-sectional areas were measured from sequential video fields for planimetry. Intracardiac flow patterns were imaged on video by injecting India ink into the vitelline vein. In separate embryos, radiopaque microfil was injected into the cardiovascular system for micro-CT scanning. We analyzed the morphologic characteristics of the heart at stage 34. Active AV and DAo stroke volume (mm(3)), right third and fourth aortic arch blood flow (mm(3)/s) were all decreased in ligated embryos (P < 0.05) when compared with normal and sham embryos. Ventricular end-diastolic volume versus normal and sham embryos decreased by 45% and 46%, respectively (P < 0.05). India ink injection revealed altered right aortic arch flow patterns in the ligated embryos compared with normal embryos. micro-CT imaging confirmed altered arch morphogenesis. Alterations in intracardiac blood flow disrupt both early cardiac morphogenesis and aortic arch selection. PMID:19322826

  15. Turner's hypoplasia and non-vitality: a case report of sequelae in permanent tooth.

    PubMed

    Geetha Priya, P R; John, John B; Elango, Indumathi

    2010-10-01

    Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner's hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis. PMID:22114432

  16. First direct aortic retrievable transcatheter aortic valve implantation in humans.

    PubMed

    Chandrasekhar, Jaya; Glover, Chris; Labinaz, Marino; Ruel, Marc

    2014-11-01

    We describe 2 cases in which transcatheter aortic valve implantation was performed with a Portico prosthesis (St Jude Medical, St Paul, MN) through a direct aortic approach. In 1 of the cases, prosthesis retrieval was needed during the procedure and was essential to the successful outcome. This is the first report, to our knowledge, of direct aortic Portico prosthesis implantation, and it highlights the significance of the retrievable nature of this device. PMID:25442452

  17. Endovascular aortic repair: first twenty years.

    PubMed

    Koncar, Igor; Tolić, Momcilo; Ilić, Nikola; Cvetković, Slobodan; Dragas, Marko; Cinara, Ilijas; Kostić, Dusan; Davidović, Lazar

    2012-01-01

    Endovascular aortic/aneurysm repair (EVAR) was introduced into clinical practice at the beginning of the nineties. Its fast development had a great influence on clinicians, vascular surgeons and interventional radiologists, educational curriculums, patients, industry and medical insurance. The aim of this paper is to present the contribution of clinicians and industry to the development and advancement of endovascular aortic repair over the last 20 years. This review article presents the development of EVAR by focusing on the contribution of physicians, surgeons and interventional radiologists in the creation of the new field of vascular surgery termed hybrid vascular surgery, and also the contribution of technological advancement by a significant help of industrial representatives--engineers and their counselors. This article also analyzes studies conducted in order to compare the successfulness of EVAR with up-to-now applied open surgical repair of aortic aneurysms, and some treatment techniques of other aortic diseases. During the first two decades of its development the EVAR method was rapidly progressing and was adopted concurrently with the expansion of technology. Owing to large randomized studies, early and long-term results indicate specific complications of this method, thus influencing further technological improvement and defining risk patients groups in whom the use of the technique should be avoided. Good results are insured only in centers, specialized in vascular surgery, which have on their disposal adequate conditions for solving all complications associated with this method. PMID:23350259

  18. Painless Type B Aortic Dissection: Insights From the International Registry of Acute Aortic Dissection

    PubMed Central

    Tolenaar, Jip L.; Hutchison, Stuart J.; Montgomery, Dan; O'Gara, Patrick; Fattori, Rosella; Pyeritz, Reed E.; Pape, Linda; Suzuki, Toru; Evangelista, Arturo; Moll, Frans L.; Rampoldi, Vincenzo; Isselbacher, Eric M.; Nienaber, Cristoph A.; Eagle, Kim A.; Trimarchi, Santi

    2013-01-01

    Introduction: The classical presentation of a patient with Type B acute aortic dissection (TBAAD) is characterized by severe chest, back, or abdominal pain, ripping or tearing in nature. However, some patients present with painless acute aortic dissection, which can lead to a delay in diagnosis and treatment. We utilized the International Registry on Acute Aortic Dissections (IRAD) database to study these patients. Methods: We analyzed 43 painless TBAAD patients enrolled in the database between January 1996 and July 2012. The differences in presentation, diagnostics, management, and outcome were compared with patients presenting with painful TBAAD. Results: Among the 1162 TBAAD patients enrolled in IRAD, 43 patients presented with painless TBAAD (3.7%). The mean age of patients with painless TBAAD was significantly higher than normal TBAAD patients (69.2 versus 63.3 years, P = 0.020). The presence of atherosclerosis (46.4% versus 30.1%, P = 0.022), diabetes (17.9% versus 7.5%; P = 0.018), and other aortic diseases (8.6% versus 2.3%, P= 0.051), such as prior aortic aneurysm (31% versus 18.8% P = 0.049) was more common in these patients. Median delay time between presentation and diagnosis was longer in painless patients (median 34.0 versus 19.0 hours; P = 0.006). Dissection of iatrogenic origin (19.5% versus 1.3%; P < 0.001) was significantly more frequent in the painless group. The in-hospital mortality was 18.6% in the painless group, compared with an in-hospital mortality of 9.9% in the control group (P = 0.063). Conclusion: Painless TBAAD is a relatively rare presentation (3.7%) of aortic dissection, and is often associated with a history of atherosclerosis, diabetes, prior aortic disease including aortic aneurysm, and an iatrogenic origin. We observed a trend for increased in-hospital mortality in painless TBAAD patients, which may be the result of a delay in diagnosis and management. Therefore, physicians should be aware of this relative rare presentation of

  19. Thrombocytosis following splenectomy and aortic valve replacement for idiopathic thrombocytopaenic purpura with bicuspid aortic valve

    PubMed Central

    Katiyar, Sarika; Ganjsinghani, Payal Kamlesh; Jain, Rajnish Kumar

    2015-01-01

    Idiopathic thrombocytopaenic purpura (ITP) patients are at high risk for complications during and after cardiac surgeries involving cardiopulmonary bypass. The main clinical problem of primary ITP is an increased risk of bleeding although bleeding may not always be present. More recently, thrombosis has become appreciated as another potential complication of the procedure. We report a 22-year-old female patient with ITP with bicuspid aortic valve and splenomegaly, who underwent uncomplicated aortic valve replacement and splenectomy simultaneously. She was readmitted with chest pain due to coronary thrombosis following splenectomy which made the management difficult. We describe our experience in managing this patient who presented with thrombotic complication rather than bleeding in post-operative period and the challenges met in maintaining appropriate anticoagulation for aortic valve replacement as well as thrombosis, post-splenectomy PMID:26379295

  20. Pulmonary multislice computed tomography findings in acute aortic dissection

    PubMed Central

    Okur, Aysegul; Sahin, Sinan

    2012-01-01

    Objective To document the type and incidence of pulmonary multislice computed tomography (CT) findings at presentation in patients with acute aortic dissection. Materials and methods Multidetector CT scans of 36 patients with a diagnosis of acute aortic dissection or intramural hematoma were retrospectively reviewed. Results Pleural effusion, dependent stasis, mosaic attenuation, interlobular septal thickening, thickening of the peribronchovascular interstitium, vascular enlargement, compression atelectasis were common findings. Additionally air trapping, emphysema, consolidation, nodules, bronchiectasis or scarring were also noted. Conclusions Various pulmonary imaging findings may accompany acute aortic dissection. These findings and their clinical significance should be further investigated. PMID:23050112

  1. A new technique to explant an infected aortic endograft.

    PubMed

    Popplewell, Matthew A; Garnham, Andrew W; Hobbs, Simon D

    2015-08-01

    The management of an infected aortic endograft can be challenging both operatively and clinically. Although aortic endograft infection is rare, the incidence is likely to increase in the coming years because of ever rising numbers of endovascular aneurysm repairs. Definitive management involves the removal of the endograft through laparotomy. Removal of the graft is technically challenging; no manufacturer's device is available to assist in disengagement of barbed hooks that hold the endograft in position. We present a new technique using the disposable proctoscope as a device to facilitate safe removal of the endograft with minimal damage to the aortic wall. PMID:25937607

  2. Dissecting thoracic aortic aneurysm associated with tuberculous pleural effusion

    PubMed Central

    Im, Kyong Shil; Choi, Min Kyung; Jeon, Yong Kyoung

    2016-01-01

    We present the case of thoracic aortic aneurysm associated with the tuberculous pleural effusion. An 82-year-old woman underwent emergency stent graft under a diagnosis of dissecting thoracic aortic aneurysm. Preoperative computed tomography revealed right pleural effusion supposed to the hemothorax caused by the dissecting aneurysm. But, the effusion was sanguineous color fluid and it was determined to result from pulmonary tuberculosis. The medical team was exposed to the pulmonary tuberculosis; fortunately no one became infected. Physicians should be aware of the possibility of an infected aortic aneurysm and prepare for pathogen transmission. PMID:27499987

  3. Pioneering transcatheter aortic valve Implant (Inovare®) via transfemoral.

    PubMed

    Pontes, José Carlos Dorsa Vieira; Duarte, João Jackson; Silva, Augusto Daige da; Dias, Amaury Mont'Serrat Ávila Souza; Benfatti, Ricardo Adala; Gardenal, Neimar; Benfatti, Amanda Ferreira Carli; Gomes, Jandir Ferreira

    2012-01-01

    We present a patient with severe aortic valvular bioprosthesis dysfunction implanted for 11 years, presenting with acute pulmonary edema due to severe valvular insufficiency with severe systolic dysfunction (EF <30%) and comorbid conditions that amounted operative risk (STS score > 10). We carried out the transcatheter aortic valve implantation (Inovare® - Braile Biomedica), which was implemented successfully by transfemoral access and good patient outcomes. PMID:23288191

  4. Enlightenment from a small but rapidly evolving penetrating aortic ulcer.

    PubMed

    Tan, Guangyi; Tang, Wenyi; Chen, Jian

    2016-07-01

    Penetrating aortic ulcer (PAU) is a pathologic type of acute aortic syndrome and usually locates in the descending aorta. The presentation, behavior and natural history of this disease process have not been clear. Here we report a case in which a rapidly evolving PAU in descending aorta needed aggressive percutaneous interventional treatment. The present case with its unique scenario might draw clinicians' attention on a "beyond the guidelines" issue. PMID:26961076

  5. Cauda equina syndrome: an uncommon symptom of aortic diseases

    PubMed Central

    He, Fuliang; Xing, Tong; Yu, Fang; Li, Hongchuan; Fang, Xiutong; Song, Hongxing

    2015-01-01

    Background: In order to help diagnose and deal with the fetal aortic diseases in time, we retrospectively reviewed 8 patients who presented with cauda equina syndrome (CES) but actually suffered from low spinal nerve ischemia due to aortic diseases. Material and Methods: 8 patients were initially diagnosed as CES. 7 patients were confirmed with aortic diseases. 1 patient was confirmed with aortic saddle embolism post emergent laminectomy. Relief of CES symptoms was evaluated during preoperation and follow-up period. Results: 1 patient was diagnosed as aortic dissection and 5 patients as AAA. These 6 patients underwent endovascular aortic repair (EVAR). The CES was relieved in 5-10 d post procedure. The 7th patient was diagnosed with acute abdominal aortic occlusion and then underwent catheter directed thrombolysis with recombinant tissue plasminogen activator (rTPA) for 20 h and CES disappeared. The JOA scores of the 7 patients were recovered from preoperative 15.14±1.21 to 21.00±2.16 within 5-10 d (P<0.01), and evaluated to be 24.12±1.34, 25.88±1.21 and 26.29±1.11 at 3 m-, 6 m- and 12 m-follow-up point, respectively. The 8th patient was initially diagnosed as lumbar spinal stenosis and lumbar disc herniation. The patient underwent emergent vertebral canal decompression and presented with serious CES symptoms. CTA confirmed that the patient had been suffered from aortic saddle embolism (ASE). Conclusion: CES caused by abdominal aortic diseases is a special event with fetal consequences if it is not recognized and treated promptly. Orthopedists and neurosurgeons should pay attentions particularly to this issue to preserve the cauda equina functions to their maximums. PMID:26379869

  6. [Stent Grafting for Aortic Dissection].

    PubMed

    Uchida, Naomichi

    2016-07-01

    The purpose of stent graft for aortic dissection is to terminate antegrade blood flow into the false lumen through primary entry. Early intervention for primary entry makes excellent aortic remodeling and emergent stent grafting for complicated acute type B aortic dissection is supported as a class I. On the other hand stent grafting for chronic aortic dissection is controversial. Early stent grafting is considered with in 6 months after on-set if the diameter of the descending aorta is more than 40 mm. Additional interventions for residual false lumen on the downstream aorta are still required. Stent graft for re-entry, candy-plug technique, and double stenting, other effective re-interventions were reported. Best treatment on the basis of each anatomical and physical characteristics should be selected in each institution. Frozen elephant trunk is alternative procedure for aortic dissection without the need to take account of proximal anatomical limitation and effective for acute type A aortic dissection. PMID:27440026

  7. Surgical Difficulties in a Case of Left Ophthalmic Artery Ruptured Aneurysm Associated with Right ICA hypoplasia - Case Report.

    PubMed

    Mohan, D; Moisa, H; Ciurea, A V

    2015-01-01

    The authors present a rare case of a ruptured left ophthalmic artery aneurysm associated with right ICA hypoplasia in a 49 year old female. The particularity of the case lies in the fact that the patient had a hypoplastic right ICA which was associated with an intracranial aneurysm. In this case we present,surgery was mandatory as it represented the patient'€™s only chance for a favorable outcome, given the lack of an adequate team specialized in endovascular coiling. Unlike many neurosurgical centers in Western Europe and the US where endovascular approaches have overtaken microsurgery, in Romania open microsurgery is frequently performed as it allows neurosurgeons to perfectly control the environment in which they operate and minimizes possible complications of coiling or stenting which become more and more frequent in other countries. PMID:26011843

  8. Enlargement of the aortic annulus during aortic valve replacement: a review.

    PubMed

    Bortolotti, Uberto; Celiento, Michele; Milano, Aldo D

    2014-01-01

    The main goal of aortic valve replacement (AVR) is to obtain relief from the fixed left ventricular (LV) obstruction by replacing the aortic valve with a prosthesis, either mechanical or biological, of adequate size. Most currently available prostheses provide satisfactory hemodynamic performance, but small-sized prostheses may be associated with high transvalvular gradients and suboptimal effective orifice area that result in prosthesis-patient mismatch (PPM), and thus are far from ideal for use in young, active patients. The avoidance of PPM is advisable as it has been repeatedly associated with increased mortality, decreased exercise tolerance and an impaired regression of LV hypertrophy after AVR for severe aortic stenosis. Enlargement of the aortic annulus (EAA) has proved to be a valuable method to prevent PPM in the presence of a diminutive aortic root. This review outlines the various techniques described for EAA, presenting technical details, long-term results and major procedure-related complications, and discussing the current role of EAA in patients requiring AVR. PMID:24779326

  9. Fluid dynamics of aortic root dilation in Marfan syndrome.

    PubMed

    Querzoli, Giorgio; Fortini, Stefania; Espa, Stefania; Costantini, Martina; Sorgini, Francesca

    2014-09-22

    Aortic root dilation and propensity to dissection are typical manifestations of the Marfan Syndrome (MS), a genetic defect leading to the degeneration of the elastic fibres. Dilation affects the structure of the flow and, in turn, altered flow may play a role in vessel dilation, generation of aneurysms, and dissection. The aim of the present work is the investigation in-vitro of the fluid dynamic modifications occurring as a consequence of the morphological changes typically induced in the aortic root by MS. A mock-loop reproducing the left ventricle outflow tract and the aortic root was used to measure time resolved velocity maps on a longitudinal symmetry plane of the aortic root. Two dilated model aortas, designed to resemble morphological characteristics typically observed in MS patients, have been compared to a reference, healthy geometry. The aortic model was designed to quantitatively reproduce the change of aortic distensibility caused by MS. Results demonstrate that vorticity released from the valve leaflets, and possibly accumulating in the root, plays a fundamental role in redirecting the systolic jet issued from the aortic valve. The altered systolic flow also determines a different residual flow during the diastole. PMID:25001203

  10. Ruptured Mycotic Aortic Aneurysm in a Sooty Mangabey (Cercocebus atys)

    PubMed Central

    Sharma, Prachi; Cohen, Joyce K; Lockhart, Shawn R; Hurst, Steven F; Drew, Clifton P

    2011-01-01

    Mycotic aortic aneurysm is a local, irreversible dilatation of the aorta associated with destruction of the vessel wall by infection and is a grave clinical condition associated with high morbidity and mortality in humans. Rupture of aortic aneurysms can be spontaneous, idiopathic, or due to severe trauma, and the condition has been associated with bacterial and, rarely, fungal infections in humans and animals. Here, we describe a case of ruptured spontaneous aortic aneurysm associated with zygomycetic infection in a 21-y-old female sooty mangabey. The animal did not present with any significant clinical signs before being found dead. At necropsy, she was in good body condition, and the thoracic cavity had a large amount of clotted blood filling the left pleural space and surrounding the lung lobes. Near the aortic arch, the descending thoracic aorta was focally perforated (diameter, approximately 0.15 cm), and clotted blood adhered to the tunica adventitia. The aortic intima had multiple, firm, pale-yellow nodules (diameter, 0.25 to 0.5 cm). Histopathologically, these nodules consisted of severe multifocal pyogranulomatous inflammation intermixed with necrosis, fibrin, and broad, infrequently septate, thin-walled fungal hyphae. Immunohistochemistry revealed fungal hyphae characteristic of Mucormycetes (formerly Zygomycetes), and PCR analysis identified the organism as Basidiobolus spp. Dissemination of the fungus beyond the aorta was not noted. Spontaneous aortic aneurysms have been described in nonhuman primates, but this is the first reported case of a ruptured spontaneous aortic aneurysm associated with entomophthoromycetic infection in a sooty mangabey. PMID:22330581

  11. MicroRNAs in aortic disease.

    PubMed

    Vavuranakis, Manolis; Kariori, Maria; Vrachatis, Dimitrios; Aznaouridis, Konstantinos; Siasos, Gerasimos; Kokkou, Eleni; Mazaris, Savvas; Moldovan, Carmen; Kalogeras, Konstantinos; Tousoulis, Dimitris; Stefanadis, Christodoulos

    2013-01-01

    MicroRNAs (miRNAs) are non-coding RNAs of ~22 nucleotides which act as down regulators of gene expression in the post-transcription level and/or in the translation level. Several studies have shown that the process of their maturation is rather crucial for the development of cardiovascular system thus their regulation (up-,down-) is implicated with many cardiac pathologies. This is evaluated through their circulating levels which are reliable, stable and the changes in their serum profiles are representative of tissue alterations serum levels. Furthermore, they have been shown to participate in cardiovascular disease pathogenesis including atherosclerosis, coronary artery disease, myocardial infarction, heart failure cardiac arrhythmias and aortic stenosis. In the present review, we will first describe i) the process of miRNAs' maturation ii) their role in the cardiovascular development, iii) their role as biomarkers of cardiac diseases, iv) the cardiac myo-miR families and the v) their role in cardiac remodeling and the development of cardiac diseases. Second we will review the miRNA families that participate in aortic stenosis separated according to its main pathways (imflammation, fibrosis, calcification). Finally, we will describe the miRNAs that participate in the development of aortic aneurysm and aortic dissection according to their serum levels. PMID:23745808

  12. Atheroembolization and potential air embolization during aortic declamping in open repair of a pararenal aortic aneurysm: A case report

    PubMed Central

    Dregelid, Einar Børre; Lilleng, Peer Kåre

    2016-01-01

    Introduction When ischemic events ascribable to microembolization occur during open repair of proximal abdominal aortic aneurysms, a likely origin of atheroembolism is not always found. Presentation of case A 78-year old man with enlargement of the entire aorta underwent open repair for a pararenal abdominal aortic aneurysm using supraceliac aortic clamping for 20 min. Then the graft was clamped, the supraceliac clamp was removed, and the distal and right renal anastomoses were also completed. The patient was stable throughout the operation with only transient drop in blood pressure on reperfusion. Postoperatively the patient developed ischemia, attributable to microembolization, in legs, small intestine, gall bladder and kidneys. He underwent fasciotomy, small bowel and gall bladder resections. Intestinal absorptive function did not recover adequately and he died after 4 months. Microscopic examination of hundreds of intestinal, juxtaintestinal mesenteric, and gall bladder arteries showed a few ones containing cholesterol emboli. Discussion It is unsure whether a few occluded small arteries out of several hundred could have caused the ischemic injury alone. There had been only moderate backbleeding from aortic branches above the proximal anastomosis while it was sutured. Inadvertently, remaining air in the graft, aorta, and aortic branches may have been whipped into the pulsating blood, resulting in air microbubbles, when the aortic clamp was removed. Conclusion Although both atheromatous particles and air microbubbles are well-known causes of iatrogenic microembolization, the importance of air microembolization in open repair of pararenal aortic aneurysms is not known and need to be studied. PMID:27100956

  13. Micromanaging abdominal aortic aneurysms.

    PubMed

    Maegdefessel, Lars; Spin, Joshua M; Adam, Matti; Raaz, Uwe; Toh, Ryuji; Nakagami, Futoshi; Tsao, Philip S

    2013-01-01

    The contribution of abdominal aortic aneurysm (AAA) disease to human morbidity and mortality has increased in the aging, industrialized world. In response, extraordinary efforts have been launched to determine the molecular and pathophysiological characteristics of the diseased aorta. This work aims to develop novel diagnostic and therapeutic strategies to limit AAA expansion and, ultimately, rupture. Contributions from multiple research groups have uncovered a complex transcriptional and post-transcriptional regulatory milieu, which is believed to be essential for maintaining aortic vascular homeostasis. Recently, novel small noncoding RNAs, called microRNAs, have been identified as important transcriptional and post-transcriptional inhibitors of gene expression. MicroRNAs are thought to "fine tune" the translational output of their target messenger RNAs (mRNAs) by promoting mRNA degradation or inhibiting translation. With the discovery that microRNAs act as powerful regulators in the context of a wide variety of diseases, it is only logical that microRNAs be thoroughly explored as potential therapeutic entities. This current review summarizes interesting findings regarding the intriguing roles and benefits of microRNA expression modulation during AAA initiation and propagation. These studies utilize disease-relevant murine models, as well as human tissue from patients undergoing surgical aortic aneurysm repair. Furthermore, we critically examine future therapeutic strategies with regard to their clinical and translational feasibility. PMID:23852016

  14. Transcaval Aortic Access for Percutaneous Thoracic Aortic Aneurysm Repair: Initial Human Experience

    PubMed Central

    Uflacker, Andre; Lim, Scott; Ragosta, Michael; Haskal, Ziv J; Lederman, Robert J.; Kern, John; Upchurch, Gilbert; Huber, Timothy; Angle, John F.; Ailawadi, Gorav

    2015-01-01

    Transcaval aortic access has been used for deployment of transcatheter aortic valves in patients in whom conventional arterial approaches are not feasible. The present report describes its use for thoracic endovascular aortic repair (TEVAR) in a 61-year-old man with a descending thoracic aneurysm. Transcaval access was performed in lieu of a surgical iliac conduit in view of small atherosclerotic pelvic arteries. TEVAR was successfully performed, followed by intervascular tract occlusion with the use of a ventricular septal occluder. Computed tomography 2 d later demonstrated no extravasation. At 1 mo, the aneurysm was free of endoleaks, the aortocaval tract had healed, and the patient had returned to baseline functional status. PMID:26408210

  15. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  16. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    PubMed Central

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. Images PMID:8423610

  17. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  18. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia

    ERIC Educational Resources Information Center

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.

    2005-01-01

    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

  19. Quadricuspid aortic valves in Syrian hamsters and their formation according to current knowledge on valvulogenesis.

    PubMed

    López-García, Alejandro; Carmen Fernández, M; Durán, Ana Carmen; Sans-Coma, Valentín; Fernández, Borja

    2015-02-01

    Occurrence of quadricuspid aortic valves has been reported in humans, in nine dogs and in a greater white-toothed shrew. Moreover, two cases of developing aortic valves with four anticipated leaflets have been described in Syrian hamster embryos. Currently, however, no case of quadricuspid aortic valve in adult hamsters has been recorded. The aim here is to present four adults of this rodent species, two of them with unequivocally quadricuspid aortic valves and the other two with quadricuspid-like aortic valves. The four anomalous aortic valves were detected among 4,190 Syrian hamsters examined in our laboratory, representing an incidence of 0.09%. None of the affected hamsters showed apparent signs of disease. The present findings are considered on the light of current empirical knowledge about the morphogenesis of quadricuspid and bicuspid aortic and pulmonary valves. Quadricuspid aortic valves result from the partition of one of the normal mesenchymal cushions which normally give rise to normal (tricuspid) valves, while quadricuspid-like valves might be the product of a combined mechanism of fusion and partition of the cushions at the onset of the valvulogenesis. The presence of aortic valves with four leaflets in ancient mammalian lineages such as insectivors and rodents suggest that quadricuspid aortic valves, although showing almost certainly a low incidence, may be widespread among the different groups of mammals, including domestic animals. PMID:25854086

  20. Ascending aortic aneurysm in a patient with bicuspid aortic valve, positive history of systemic autoimmune diseases and common genetic factors: a case report

    PubMed Central

    Foffa, Ilenia; Festa, Pier Luigi; Ait-Ali, Lamia; Mazzone, Annamaria; Bevilacqua, Stefano; Andreassi, Maria Grazia

    2009-01-01

    The bicuspid aortic valve (BAV) and specific systemic autoimmune diseases are associated with cardiovascular manifestation, including aortic aneurysm. We reported a case of 64 year-old patient with BAV and a history of ankylosing spondylitis (AS) and systemic lupus erythematosus (SLE), and who developed ascending thoracic aortic aneurysm. The patient presented also the homozygosity for genetic variants of MMP9, ACE, MTHFR and PAI-1 genes. Gene-environmental interactions may represent an additional pathogenetic dimension in the still challenging management of the abnormalities of the aortic wall, including dilatation, aneurysm and dissection. PMID:19580662

  1. Linkage analysis excludes the glaucoma locus on 1q from involvement in autosomal dominant glaucoma with iris hypoplasia

    SciTech Connect

    Heon, E.; Sheth, B.P.; Kalenak, J.W.

    1994-09-01

    Genetic factors have been implicated in a variety of types of glaucoma including primary open-angle glaucoma, infantile glaucoma, pigmentary glaucoma, and juvenile open-angle glaucoma. We previously mapped the disease-causing gene for one type of juvenile open angle glaucoma to chromosome 1q21-31. Weatherill and Hart (1969) and Pearce (1983) each noted the association of iris hypoplasia and early-onset autosomal dominant glaucoma. We recently had the opportunity to study a large family (12 affected members) with this phenotype. Affected individuals developed glaucoma at an average age of 30 years. These patients also have a strikingly underdeveloped iris stroma which causes a peculiar eye color. Linkage analysis was able to completely exclude the 1q glaucoma locus from involvement in the disorder that affects this family. A complete clinical description of the family and linkage results at additional candidate loci will be presented.

  2. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I.

    PubMed

    Rath, Rachna; Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa

    2016-01-01

    Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass. PMID:27382495

  3. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

    PubMed Central

    Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa

    2016-01-01

    Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass. PMID:27382495

  4. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    PubMed Central

    Boczonadi, Veronika; Müller, Juliane S.; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J.; Chinnery, Patrick F.; Edvardson, Shimon; Horvath, Rita

    2014-01-01

    The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease. PMID:24989451

  5. Percutaneous transluminal alcohol septal myocardial ablation after aortic valve replacement

    NASA Technical Reports Server (NTRS)

    Sitges, M.; Kapadia, S.; Rubin, D. N.; Thomas, J. D.; Tuzcu, M. E.; Lever, H. M.

    2001-01-01

    When left ventricular outflow tract obstruction develops after aortic valve replacement, few treatment choices have been available until now. We present a patient with prior aortic valve replacement who developed left ventricle outflow tract obstruction that was successfully treated with a percutaneous transcoronary myocardial septal alcohol ablation. This technique is a useful tool for the treatment of obstructive hypertrophic cardiomyopathy, especially in those patients with prior heart surgery. Copyright 2001 Wiley-Liss, Inc.

  6. Diagnosis of mycotic abdominal aortic aneurysm using 67-gallium citrate

    SciTech Connect

    Blumoff, R.L.; McCartney, W.; Jaques, P.; Johnson, G. Jr.

    1982-11-01

    Mycotic aneurysms of the abdominal aorta are uncommon, but potentially lethal problems. Clinical subtleties may suggest their presence, but in the past, definitive diagnosis has been dependent on surgical exploration or autopsy findings. A case is presented in which 67-gallium citrate abdominal scanning localized the site of sepsis in an abdominal aortic aneurysm and allowed for prompt and successful surgical therapy. This noninvasive technique is recommended as a adjunct in the diagnosis of mycotic abdominal aortic aneurysms.

  7. Acute abdominal aortic thrombosis caused by paroxysmal atrial fibrillation.

    PubMed

    Riccioni, G; Bucciarelli, V; Bisceglia, N; Totaro, G; Scotti, L; Aceto, A; Martini, F; Gallina, S; Bucciarelli, T; Macarini, L

    2013-01-01

    Acute abdominal aortic thrombosis is a rare and potential fatal event, which occurs in adult subjects. We present the case of a 72-year-old-man, who referred to the emergency Department of our hospital because of persistent severe abdominal and perineal pain. Doppler ultrasounds and computerized tomography angiography revealed the acute thrombosis of the abdominal aorta. Immediate revascularization through aortic thrombo-endoarterectomy resolved the disease. PMID:23830410

  8. A Migrated Aortic Stent Graft Causing Erosive Spondylopathy

    SciTech Connect

    Gestrich, Christopher Probst, Chris; Wilhelm, Kai; Schiller, Wolfgang

    2013-12-15

    We report about a patient presenting with back pain 4 months after an uneventful endovascular implantation of an aortic stent graft. Computed tomography scan revealed a migration of the stent with consecutive endoleakage, kink formation, and movement of the stent toward the spine, which caused destruction of the aortic wall as well as vertebral necrosis. Explantation of the stent and replacement of the native aorta relieved the patient of his symptoms.

  9. Aortic intimal sarcoma masquerading as bilateral renal artery stenosis.

    PubMed

    Sethi, Supreet; Pothineni, Naga Krishna; Syal, Gaurav; Ali, Syed Mujtaba; Krause, Michelle W

    2013-01-01

    Aortic intimal sarcoma is a rare tumor with poor prognosis. The most common manifestations are thromboembolic phenomena and vascular obstruction. We present a case of aortic intimal sarcoma causing bilateral renal artery stenosis which manifested as resistant hypertension and acute kidney inury. Multiple attempts to stent the renal arteries were unsuccessful. Eventually the patient developed acute limb ischemia and oliguric kidney failure as complications of the primary tumor. PMID:24052470

  10. "Killer coronary artery" and aortic valve stenosis: A tricky case.

    PubMed

    Nader, Joseph; Labont, Béatris Alina; Houpe, David; Caus, Thierry

    2015-11-01

    Anomalous origin of the left main coronary artery from the right coronary sinus is rarely diagnosed in elderly patients. We report such an anomaly in a 75-year-old lady presenting with chest pain and syncope. Preoperative screening revealed that her aortic valve was moderately stenotic. The patient underwent a successful unroofing procedure combined with aortic valve replacement. The outcome was uncomplicated and the patient remained asymptomatic at one year postoperatively. PMID:24787552

  11. Coronary Ostial Stenosis after Aortic Valve Replacement

    PubMed Central

    Ziakas, Antonios G.; Economou, Fotios I.; Charokopos, Nicholas A.; Pitsis, Antonios A.; Parharidou, Despina G.; Papadopoulos, Thomas I.; Parharidis, Georgios E.

    2010-01-01

    Coronary ostial stenosis is a rare but potentially serious sequela after aortic valve replacement. It occurs in the left main or right coronary artery after 1% to 5% of aortic valve replacement procedures. The clinical symptoms are usually severe and may appear from 1 to 6 months postoperatively. Although the typical treatment is coronary artery bypass grafting, patients have been successfully treated by means of percutaneous coronary intervention. Herein, we present the cases of 2 patients in whom coronary ostial stenosis developed after aortic valve replacement. In the 1st case, a 72-year-old man underwent aortic valve replacement and bypass grafting of the saphenous vein to the left anterior descending coronary artery. Six months later, he experienced a non-ST-segment-elevation myocardial infarction. Coronary angiography revealed a critical stenosis of the right coronary artery ostium. In the 2nd case, a 78-year-old woman underwent aortic valve replacement and grafting of the saphenous vein to an occluded right coronary artery. Four months later, she experienced unstable angina. Coronary angiography showed a critical left main coronary artery ostial stenosis and occlusion of the right coronary artery venous graft. In each patient, we performed percutaneous coronary intervention and deployed a drug-eluting stent. Both patients were asymptomatic on 6-to 12-month follow-up. We attribute the coronary ostial stenosis to the selective ostial administration of cardioplegic solution during surgery. We conclude that retrograde administration of cardioplegic solution through the coronary sinus may reduce the incidence of postoperative coronary ostial stenosis, and that stenting may be an efficient treatment option. PMID:20844624

  12. Management of Acute Aortic Syndrome and Chronic Aortic Dissection

    SciTech Connect

    Nordon, Ian M. Hinchliffe, Robert J.; Loftus, Ian M.; Morgan, Robert A.; Thompson, Matt M.

    2011-10-15

    Acute aortic syndrome (AAS) describes several life-threatening aortic pathologies. These include intramural hematoma, penetrating aortic ulcer, and acute aortic dissection (AAD). Advances in both imaging and endovascular treatment have led to an increase in diagnosis and improved management of these often catastrophic pathologies. Patients, who were previously consigned to medical management or high-risk open surgical repair, can now be offered minimally invasive solutions with reduced morbidity and mortality. Information from the International Registry of Acute Aortic Dissection (IRAD) database demonstrates how in selected patients with complicated AAD the 30-day mortality from open surgery is 17% and endovascular stenting is 6%. Despite these improvements in perioperative deaths, the risks of stroke and paraplegia remain with endovascular treatment (combined outcome risk 4%). The pathophysiology of each aspect of AAS is described. The best imaging techniques and the evolving role of endovascular techniques in the definitive management of AAS are discussed incorporating strategies to reduce perioperative morbidity.

  13. External aortic wrap for repair of type 1 endoleak☆

    PubMed Central

    Dean, Anastasia; Yap, Swee Leong; Bhamidipaty, Venu; Pond, Franklin

    2014-01-01

    INTRODUCTION Type 1 endoleak is a rare complication after endovascular abdominal aortic aneurysm repair (EVAR) with a reported frequency up to 2.88%. It is a major risk factor for aneurysmal enlargement and rupture. PRESENTATION OF CASE We present a case of a 68 year old gentleman who was found to have a proximal type 1 endoleak with loss of graft wall apposition on routine surveillance imaging post-EVAR. An initial attempt at endovascular repair was unsuccessful. Given the patient's multiple medical co-morbidities, which precluded the possibility of conventional graft explantation and open repair, we performed a novel surgical technique which did not require aortic cross-clamping. A double-layered Dacron wrap was secured around the infra-renal aorta with Prolene sutures, effectively hoisting the posterior bulge to allow wall to graft apposition and excluding the endoleak. Post-operative CT angiogram showed resolution of the endoleak and a stable sac size. DISCUSSION Several anatomical factors need to be considered when this technique is proposed including aortic neck angulation, position of lumbar arteries and peri-aortic venous anatomy. While an external wrap technique has been investigated sporadically for vascular aneurysms, to our knowledge there is only one similar case in the literature. CONCLUSION Provided certain anatomical features are present, an external aortic wrap is a useful and successful option to manage type 1 endoleak in high-risk patients who are unsuitable for aortic clamping. PMID:25217878

  14. Downregulation of the Yes-Associated Protein Is Associated with Extracellular Matrix Disorders in Ascending Aortic Aneurysms

    PubMed Central

    Li, Haiyang; Jiang, Wenjian; Ren, Weihong; Guo, Dong; Guo, Jialong; Wang, Xiaolong; Liu, Yuyong; Lan, Feng; Du, Jie; Zhang, Hongjia

    2016-01-01

    Previous studies indicate that extracellular matrix (ECM) disorders lead to the apoptosis of Vascular Smooth Muscle Cells (VSMCs), which impairs the aortic wall by reducing the generation of elastic fibers, and ultimately result in ascending aortic aneurysm. The critical role of the Yes-associated protein (YAP) has been elucidated in cardiac/SMC proliferation during cardiovascular development. However, the association of YAP expression and extracellular matrix disorders in ascending aortic aneurysms is not clear. Here, we present for the first time that the downregulation of YAP in VSMCs is associated with ECM disorders of the media in ascending aortic aneurysms. We found that aortic ECM deteriorated with increased apoptotic VSMCs. Moreover, expression of YAP was dramatically reduced in the aortic walls of patients with ascending aortic aneurysms, while the normal aortic samples exhibited abundant YAP in the VSMCs. These results suggest that downregulation of YAP leads to apoptosis of VSMCs, which are essential for the homeostasis of the aortic wall. The resultant ECM disorders affect aortic structure and function and contribute to the development of ascending aortic aneurysms. In summary, through assessment of clinical samples, we revealed the association between downregulation of YAP in VSMCs and the development of ascending aortic aneurysms, providing new insight into the pathogenesis of this disease. PMID:26904131

  15. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

    PubMed

    Gisseman, Jordan D; Herce, Honey H

    2016-03-01

    Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non-consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1-55 years). Eighty-nine percent were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients. © 2016 Wiley Periodicals, Inc. PMID:27001926

  16. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.

    PubMed

    Haumaitre, Cécile; Fabre, Mélanie; Cormier, Sarah; Baumann, Clarisse; Delezoide, Anne-Lise; Cereghini, Silvia

    2006-08-01

    Heterozygous mutations in the HNF1beta/vHNF1/TCF2 gene cause maturity-onset diabetes of the young (MODY5), associated with severe renal disease and abnormal genital tract. Here, we characterize two fetuses, a 27-week male and a 31.5-week female, carrying novel mutations in exons 2 and 7 of HNF1beta, respectively. Although these mutations were predicted to have different functional consequences, both fetuses displayed highly similar phenotypes. They presented one of the most severe phenotypes described in HNF1beta carriers: bilateral enlarged polycystic kidneys, severe pancreas hypoplasia and abnormal genital tract. Consistent with this, we detected high levels of HNF1beta transcripts in 8-week human embryos in the mesonephros and metanephric kidney and in the epithelium of pancreas. Renal histology and immunohistochemistry analyses of mutant fetuses revealed cysts derived from all nephron segments with multilayered epithelia and dysplastic regions, accompanied by a marked increase in the expression of beta-catenin and E-cadherin. A significant proportion of cysts still expressed the cystic renal disease proteins, polycystin-1, polycystin-2, fibrocystin and uromodulin, implying that cyst formation may result from a deregulation of cell-cell adhesion and/or the Wnt/beta-catenin signaling pathway. Both fetuses exhibited a severe pancreatic hypoplasia with underdeveloped and disorganized acini, together with an absence of ventral pancreatic-derived tissue. beta-catenin and E-cadherin were strongly downregulated in the exocrine and endocrine compartments, and the islets lacked the transporter essential for glucose-sensing GLUT2, indicating a beta-cell maturation defect. This study provides evidence of differential gene-dosage requirements for HNF1beta in normal human kidney and pancreas differentiation and increases our understanding of the etiology of MODY5 disorder. PMID:16801329

  17. Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia.

    PubMed

    Engiz, Ozlem; Ozön, Alev; Riepe, Felix; Alikaşifoğlu, Ayfer; Gönç, Nazli; Kandemir, Nurgün

    2010-01-01

    X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HH). The production of other pituitary hormones (adrenocorticotropic hormone [ACTH], growth hormone [GH], thyroid-stimulating hormone [TSH], and prolactin [PRL]) is usually normal. Mutations of the DAX-1 gene have been reported in patients with AHC and HH. We present a 13-year-old male patient with AHC caused by a nonsense mutation in the DAX-1 gene who developed GH deficiency following head trauma. He showed signs of adrenal insufficiency at the age of 23 months, and glucocorticoid and mineralocorticoid treatment was started. His parents reported head trauma due to a traffic accident at the age of 21 months. Adrenal computed tomography revealed hypoplasia of the left and agenesis of the right adrenal gland. Decreased growth rate was noted at the age of 12.5 years while receiving hydrocortisone 15 mg/m2/day. His height was 139.9 cm (-1.46 SD), body weight was 54.9 kg, pubic hair was Tanner stage 1, and testis size was 3 ml. His bone age was 7 years. His gonadotropin (follicle-stimulating hormone [FSH], luteinizing hormone [LH]) and testosterone levels were prepubertal. The evaluation of GH/insulin-like growth factor-1 (IGF-1) secretion at the age of 13 years revealed GH deficiency. Pituitary magnetic resonance imaging demonstrated a hypoplastic hypophysis (< 2.5 mm) and a normal infundibulum. GH treatment (0.73 IU/kg/week) was started. This paper reports a patient with genetically confirmed AHC demonstrating GH deficiency possibly due to a previous head trauma. Complete pituitary evaluation should be performed in any child who has survived severe traumatic brain injury. PMID:20718192

  18. Current surgical results of acute type A aortic dissection in Japan.

    PubMed

    Okita, Yutaka

    2016-07-01

    Current surgical results of acute type A aortic dissection in Japan are presented. According to the annual survey by the Japanese Association of Thoracic Surgery, 4,444 patients with acute type A aortic dissection underwent surgical procedures and the overall hospital mortality was 9.1% in 2013. The prevalence of aortic root replacement with a valve sparing technique, total arch replacement (TAR), and frozen stent graft are presented and strategies for thrombosed dissection or organ malperfusion syndrome secondary to acute aortic dissection are discussed. PMID:27563550

  19. Current surgical results of acute type A aortic dissection in Japan

    PubMed Central

    2016-01-01

    Current surgical results of acute type A aortic dissection in Japan are presented. According to the annual survey by the Japanese Association of Thoracic Surgery, 4,444 patients with acute type A aortic dissection underwent surgical procedures and the overall hospital mortality was 9.1% in 2013. The prevalence of aortic root replacement with a valve sparing technique, total arch replacement (TAR), and frozen stent graft are presented and strategies for thrombosed dissection or organ malperfusion syndrome secondary to acute aortic dissection are discussed. PMID:27563550

  20. Aortic Baroreceptors Display Higher Mechanosensitivity than Carotid Baroreceptors

    PubMed Central

    Lau, Eva On-Chai; Lo, Chun-Yin; Yao, Yifei; Mak, Arthur Fuk-Tat; Jiang, Liwen; Huang, Yu; Yao, Xiaoqiang

    2016-01-01

    Arterial baroreceptors are mechanical sensors that detect blood pressure changes. It has long been suggested that the two arterial baroreceptors, aortic and carotid baroreceptors, have different pressure sensitivities. However, there is no consensus as to which of the arterial baroreceptors are more sensitive to changes in blood pressure. In the present study, we employed independent methods to compare the pressure sensitivity of the two arterial baroreceptors. Firstly, pressure-activated action potential firing was measured by whole-cell current clamp with a high-speed pressure clamp system in primary cultured baroreceptor neurons. The results show that aortic depressor neurons possessed a higher percentage of mechano-sensitive neurons. Furthermore, aortic baroreceptor neurons show a lower pressure threshold than that of carotid baroreceptor neurons. Secondly, uniaxial stretching of baroreceptor neurons, that mimics the forces exerted on blood vessels, elicited a larger increase in intracellular Ca2+ rise in aortic baroreceptor neurons than in carotid baroreceptor neurons. Thirdly, the pressure-induced action potential firing in the aortic depressor nerve recorded in vivo was also higher. The present study therefore provides for a basic physiological understanding on the pressure sensitivity of the two baroreceptor neurons and suggests that aortic baroreceptors have a higher pressure sensitivity than carotid baroreceptors.

  1. A sinister cause of anterograde amnesia: painless aortic dissection.

    PubMed

    April, Michael D; Fossum, Kurt; Hounshell, Charles; Stolper, Katherine; Spear, Leigh; Semelrath, Kevin

    2015-07-01

    Aortic dissection is a frequently devastating diagnosis classically associated with severe chest pain.We present a case of painless aortic dissection with anterograde amnesia. An 84-year-old man was brought to the emergency department by ambulance, when his wife noted that he developed acute onset complete loss of short-term memory. Medical history was notable for a 4.5-cm fusiform thoracic aortic root aneurysm. On arrival,he denied pain or syncope.On examination, he was mildly hypotensive(110/59 mm Hg); and there were no murmurs, pulse deficits, or focal neurologic deficits. During his stay, he developed left flank pain. Chest radiography demonstrated subtle mediastinal widening and obscuration of the aortic knob compared with previous films. Computed tomography revealed an extensive intimal flap consistent with an aortic dissection involving the sinus of Valsalva and left renal artery. The patient subsequently developed acute onset chest pain after which he became unresponsive. Echocardiography demonstrated tamponade physiology.The family decided to transition to comfort care measures, and the patient died soon after.We identified 7 other cases in the literature of aortic dissection cases with presentations consistent with transient global amnesia,5 of which without neurologic deficits and 3 of which without pain. This case highlights the imperative of a thorough history and high index of suspicion for this catastrophic diagnosis in patients with transient global amnesia who otherwise might be expected to have an excellent prognosis and little need for diagnostic work-up. PMID:25649752

  2. Intraoperative aortic dissection

    PubMed Central

    Singh, Ajmer; Mehta, Yatin

    2015-01-01

    Intraoperative aortic dissection is a rare but fatal complication of open heart surgery. By recognizing the population at risk and by using a gentle operative technique in such patients, the surgeon can usually avoid iatrogenic injury to the aorta. Intraoperative transesophageal echocardiography and epiaortic scanning are invaluable for prompt diagnosis and determination of the extent of the injury. Prevention lies in the strict control of blood pressure during cannulation/decannulation, construction of proximal anastomosis, or in avoiding manipulation of the aorta in high-risk patients. Immediate repair using interposition graft or Dacron patch graft is warranted to reduce the high mortality associated with this complication. PMID:26440240

  3. Cardiovocal Syndrome Secondary to an Aortic Aneurysm

    PubMed Central

    Wang, Hsing-Won; Chen, Mei-Chien; Chao, Pin-Zhir; Lee, Fei-Peng

    2016-01-01

    We reported that a 68-year-old man presented to the ENT outpatient department complaining of hoarseness for more than 10 months. Clinical exam identified left vocal palsy in the paramedian position and atrophic vocal folds were noted. Chest radiography revealed a large bulging contour overlying aorta and left hilar shadow. Aortic aneurysm was proved by CT scanning. Contrast-enhanced chest computed tomography for further evaluation showed a broad-based aortic aneurysm at proximal descending aorta, projecting anterolaterally. Cardiovocal syndrome was proved. The syndrome is a rare clinical presentation. While a patient with unilateral vocal palsy is encountered, one might keep in mind the possibility of cardiovocal syndrome especially in an adult who had a cardiovascular disease. PMID:27088024

  4. Cardiovocal Syndrome Secondary to an Aortic Aneurysm.

    PubMed

    Wang, Hsing-Won; Chen, Mei-Chien; Chao, Pin-Zhir; Lee, Fei-Peng

    2016-01-01

    We reported that a 68-year-old man presented to the ENT outpatient department complaining of hoarseness for more than 10 months. Clinical exam identified left vocal palsy in the paramedian position and atrophic vocal folds were noted. Chest radiography revealed a large bulging contour overlying aorta and left hilar shadow. Aortic aneurysm was proved by CT scanning. Contrast-enhanced chest computed tomography for further evaluation showed a broad-based aortic aneurysm at proximal descending aorta, projecting anterolaterally. Cardiovocal syndrome was proved. The syndrome is a rare clinical presentation. While a patient with unilateral vocal palsy is encountered, one might keep in mind the possibility of cardiovocal syndrome especially in an adult who had a cardiovascular disease. PMID:27088024

  5. Optimal Design of Aortic Leaflet Prosthesis

    NASA Technical Reports Server (NTRS)

    Ghista, Dhanjoo N.; Reul, Helmut; Ray, Gautam; Chandran, K. B.

    1978-01-01

    The design criteria for an optimum prosthetic-aortic leaflet valve are a smooth washout in the valve cusps, minimal leaflet stress, minimal transmembrane pressure for the valve to open, an adequate lifetime (for a given blood-compatible leaflet material's fatigue data). A rigorous design analysis is presented to obtain the prosthetic tri-leaflet aortic valve leaflet's optimum design parameters. Four alternative optimum leaflet geometries are obtained to satisfy the criteria of a smooth washout and minimal leaflet stress. The leaflet thicknesses of these four optimum designs are determined by satisfying the two remaining design criteria for minimal transmembrane opening pressure and adequate fatigue lifetime, which are formulated in terms of the elastic and fatigue properties of the selected leaflet material - Avcothane-51 (of the Avco-Everett Co. of Massachusetts). Prosthetic valves are fabricated on the basis of the optimum analysis and the resulting detailed engineering drawings of the designs are also presented in the paper.

  6. CT of acute abdominal aortic disorders.

    PubMed

    Bhalla, Sanjeev; Menias, Christine O; Heiken, Jay P

    2003-11-01

    Aortic aneurysm rupture, aortic dissection, PAU, acute aortic occlusion, traumatic aortic injury, and aortic fistula represent acute abdominal aortic conditions. Because of its speed and proximity to the emergency department, helical CT is the imaging test of choice for these conditions. MR imaging also plays an important role in the imaging of aortic dissection and PAU, particularly when the patient is unable to receive intravenous contrast material. In this era of MDCT, conventional angiography is used as a secondary diagnostic tool to clarify equivocal findings on cross-sectional imaging. Ultrasound is helpful when CT is not readily available and the patient is unable or too unstable to undergo MR imaging. PMID:14661663

  7. Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life.

    PubMed

    Ali, Muhammad Sajawal; Tchernodrinski, Stefan; Mohananey, Divyanshu; Ali, Ahya Sajawal

    2016-01-01

    A 58-year-old woman was admitted with acute heart failure. She had a long history of resistant hypertension, with an unremarkable work up for secondary causes in the past. Her brachial blood pressure was 210/70 mm Hg, with ankle blood pressure of 100/70 mm Hg. CT angiogram revealed marked narrowing of the descending thoracic aorta between the left subclavian artery and the diaphragm, consistent with middle aortic syndrome (MAS). She was initially managed with diuretics and antihypertensives. Subsequently thoracotomy revealed a severely hypoplastic segment of the descending aorta. The diseased segment was resected and aortic reconstruction performed. Histopathology showed fragmentation of the medial elastic fibres and fibrosis of the medial and intimal layers. These findings along with gross aortic hypoplasia and absence of features of Takayasu's arteritis, suggest that our patient had congenital MAS. The patient has done well since her surgery. We believe this is the first case of congenital MAS reported in the sixth decade of life. PMID:27530881

  8. Aortic biomechanics in hypertrophic cardiomyopathy

    PubMed Central

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi

    2015-01-01

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

  9. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.

    PubMed

    Milewicz, Dianna; Hostetler, Ellen; Wallace, Stephanie; Mellor-Crummey, Lauren; Gong, Limin; Pannu, Hariyadarshi; Guo, Dong-chuan; Regalado, Ellen

    2016-04-01

    Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these thoracic aortic diseases are inherited in an autosomal dominant manner, and thirteen genes have been identified to date. As the clinical phenotype associated with each specific gene is defined, the data indicate that the underlying gene dictates associated syndromic features. More importantly, the underlying gene also dictates the aortic disease presentation, the risk for dissection at a given range of aortic diameters, the risk for additional vascular diseases and what specific vascular diseases occur associated with the gene. These results lead to the recommendation that the medical and surgical management of these patients be dictated by the underlying gene, and for patients with mutations in ACTA2, the specific mutation in the gene. PMID:26837258

  10. Contrast-enhanced helical computerised tomography in the investigation of thoracic aortic injury.

    PubMed Central

    Beese, R. C.; Allan, R.; Treasure, T.

    2001-01-01

    Aortic angiography is widely considered the 'gold standard' for the diagnosis of traumatic thoracic aortic injury. Unfortunately, thoracic aortic angiography has many disadvantages: the technique is invasive but, more importantly, it is not routinely available in all hospitals, necessitating transfer of critically ill patients. Contrast-enhancement helical computerised tomography (CEHCT) of the thorax is rapidly becoming available, especially in more district general hospitals, and has been shown to be as sensitive and specific in detecting aortic trauma as angiography. This technique has the advantage of being non-invasive and is able to demonstrate injuries other than thoracic aortic disruption. We present four cases of traumatic thoracic disruption initially diagnosed using CEHCT in whom surgical repair was performed on the basis of the CEHCT findings. The surgical findings of aortic injury were correlated with CEHCT features. Images Figure 1 Figure 2 PMID:11212440

  11. An alternate solution for the treatment of ascending aortic aneurysms: the wrapping technique

    PubMed Central

    2010-01-01

    Background The aortic Dacron wrapping technique is a surgical technique used under certain circumstances in cases of ascending aorta dilatation. Herein, we are presenting our experience on the method performed on multimorbid patients who denied major aortic surgery. Methods We included in our series 7 patients (5 male-2 female) with mild to moderate ascending aortic dilatation, who were operated with the wrapping technique. One patient was submitted to biological aortic valve replacement during the same procedure. The number of conventionally operated patients during the same period (2 years) was 21. Results Mortality during the 18-months follow-up control was 0%. One patient had to be operated with biological aortic valve replacement 18 months after the initial wrapping operation, although the diameter of her ascending aorta remained stable. Conclusions The Dacron wrapping technique is a method that can alternatively be used in multimorbid patients with mild to moderate ascending aortic dilatation without dissecting elements and has generally good results. PMID:21047398

  12. A Perspective Review on Numerical Simulations of Hemodynamics in Aortic Dissection

    PubMed Central

    Wan Ab Naim, Wan Naimah; Ganesan, Poo Balan; Hashim, Shahrul Amry

    2014-01-01

    Aortic dissection, characterized by separation of the layers of the aortic wall, poses a significant challenge for clinicians. While type A aortic dissection patients are normally managed using surgical treatment, optimal treatment strategy for type B aortic dissection remains controversial and requires further evaluation. Although aortic diameter measured by CT angiography has been clinically used as a guideline to predict dilation in aortic dissection, hemodynamic parameters (e.g., pressure and wall shear stress), geometrical factors, and composition of the aorta wall are known to substantially affect disease progression. Due to the limitations of cardiac imaging modalities, numerical simulations have been widely used for the prediction of disease progression and therapeutic outcomes, by providing detailed insights into the hemodynamics. This paper presents a comprehensive review of the existing numerical models developed to investigate reasons behind tear initiation and progression, as well as the effectiveness of various treatment strategies, particularly the stent graft treatment. PMID:24672348

  13. [Single coronary artery and right aortic arch].

    PubMed

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Coronary anomalies are mostly asymptomatic and diagnosed incidentally during coronary angiography or echocardiography. However, they must be taken into account in the differential diagnosis of angina, dyspnea, syncope, acute myocardial infarction or sudden death in young patients. The case is presented of two rare anomalies, single coronary artery originating from right sinus of Valsalva and right aortic arch, in a 65 year-old patient with atherosclerotic coronary artery disease treated percutaneously. PMID:25304052

  14. Crater-Like Ulceration of Aortic Arch.

    PubMed

    Simon, Caterina; Calabrese, Alice; Canu, Gianluca; Merlo, Maurizio; Galletti, Lorenzo

    2014-12-01

    We report the case of a 78-year-old female who presented to our hospital with signs of hemorrhagic shock and breathlessness. A transthoracic echocardiography demonstrated pericardial effusion. Computed tomography of the chest showed a penetrating atherosclerotic ulcer of the aortic arch with an intramural hematoma of the ascending and descending aorta. Endovascular repair with stent-grafting was urgently performed and a pericardial window placement was done to reduce mediastinal bleeding. PMID:26798748

  15. Mycotic aneurysm of the aortic arch.

    PubMed

    Aliaga, L; Cobo, F; Miranda, C; Lara, J

    2000-01-01

    A 61-year-old diabetic woman presented with a mycotic aneurysm of the aortic arch, also involving the left subclavian and vertebral arteries, caused by Staphylococcus aureus. Two months before, she had suffered from staphylococcal septic arthritis in her left knee. The patient was treated with antibiotics and an emergency operation was performed involving aneurysm excision and in situ synthetic graft replacement. She died on the fourth postoperative day from hemorrhagic shock. PMID:10961533

  16. Unusual Case of Overt Aortic Dissection Mimicking Aortic Intramural Hematoma

    PubMed Central

    Disha, Kushtrim; Kuntze, Thomas; Girdauskas, Evaldas

    2016-01-01

    We report an interesting case in which overt aortic dissection mimicked two episodes of aortic intramural hematoma (IMH) (Stanford A, DeBakey I). This took place over the course of four days and had a major influence on the surgical treatment strategy. The first episode of IMH regressed completely within 15 hours after it was clinically diagnosed and verified using imaging techniques. The recurrence of IMH was detected three days thereafter, resulting in an urgent surgical intervention. Overt aortic dissection with evidence of an intimal tear was diagnosed intraoperatively. PMID:27066437

  17. Update in the management of type B aortic dissection.

    PubMed

    Nauta, Foeke Jh; Trimarchi, Santi; Kamman, Arnoud V; Moll, Frans L; van Herwaarden, Joost A; Patel, Himanshu J; Figueroa, C Alberto; Eagle, Kim A; Froehlich, James B

    2016-06-01

    Stanford type B aortic dissection (TBAD) is a life-threatening aortic disease. The initial management goal is to prevent aortic rupture, propagation of the dissection, and symptoms by reducing the heart rate and blood pressure. Uncomplicated TBAD patients require prompt medical management to prevent aortic dilatation or rupture during subsequent follow-up. Complicated TBAD patients require immediate invasive management to prevent death or injury caused by rupture or malperfusion. Recent developments in diagnosis and management have reduced mortality related to TBAD considerably. In particular, the introduction of thoracic stent-grafts has shifted the management from surgical to endovascular repair, contributing to a fourfold increase in early survival in complicated TBAD. Furthermore, endovascular repair is now considered in some uncomplicated TBAD patients in addition to optimal medical therapy. For more challenging aortic dissection patients with involvement of the aortic arch, hybrid approaches, combining open and endovascular repair, have had promising results. Regardless of the chosen management strategy, strict antihypertensive control should be administered to all TBAD patients in addition to close imaging surveillance. Future developments in stent-graft design, medical therapy, surgical and hybrid techniques, imaging, and genetic screening may improve the outcomes of TBAD patients even further. We present a comprehensive review of the recommended management strategy based on current evidence in the literature. PMID:27067136

  18. Acute Type A Aortic Dissection Missed as Acute Coronary Syndrome

    PubMed Central

    Ansari-Ramandi, Mohammad Mostafa; Firoozi, Ata

    2016-01-01

    Although the aortic dissection is not common, its outcome is frequently fatal, and many patients with aortic dissection die before referral to the hospital or any diagnostic testing. The symptoms of aortic dissection can be similar to myocardial ischemia. A 66-year-old male was referred to our hospital with suspicion of aortic dissection after echocardiography done for evaluating his high blood pressure. He had symptoms of acute coronary syndrome two years before and had done coronary angiography. On presentation to our hospital he had a high blood pressure. On reviewing his past medical history and examining, in the film of coronary angiography, the dissection flap in ascending aorta was identified. Although type A aortic dissection is a catastrophic condition with high mortality and requires prompt surgical treatment but in some cases it may be misdiagnosed as acute coronary syndrome. Sometimes against its high mortality when left untreated, patients survive and are diagnosed later in life incidentally. So it is of great importance to have great clinical suspicion for aortic dissection in patients referring to the hospital with chest pain and the predisposing factors. PMID:27437290

  19. Minimally invasive aortic valve surgery.

    PubMed

    Castrovinci, Sebastiano; Emmanuel, Sam; Moscarelli, Marco; Murana, Giacomo; Caccamo, Giuseppa; Bertolino, Emanuela Clara; Nasso, Giuseppe; Speziale, Giuseppe; Fattouch, Khalil

    2016-09-01

    Aortic valve disease is a prevalent disorder that affects approximately 2% of the general adult population. Surgical aortic valve replacement is the gold standard treatment for symptomatic patients. This treatment has demonstrably proven to be both safe and effective. Over the last few decades, in an attempt to reduce surgical trauma, different minimally invasive approaches for aortic valve replacement have been developed and are now being increasingly utilized. A narrative review of the literature was carried out to describe the surgical techniques for minimally invasive aortic valve surgery and report the results from different experienced centers. Minimally invasive aortic valve replacement is associated with low perioperative morbidity, mortality and a low conversion rate to full sternotomy. Long-term survival appears to be at least comparable to that reported for conventional full sternotomy. Minimally invasive aortic valve surgery, either with a partial upper sternotomy or a right anterior minithoracotomy provides early- and long-term benefits. Given these benefits, it may be considered the standard of care for isolated aortic valve disease. PMID:27582764

  20. Minimally invasive aortic valve surgery

    PubMed Central

    Castrovinci, Sebastiano; Emmanuel, Sam; Moscarelli, Marco; Murana, Giacomo; Caccamo, Giuseppa; Bertolino, Emanuela Clara; Nasso, Giuseppe; Speziale, Giuseppe; Fattouch, Khalil

    2016-01-01

    Aortic valve disease is a prevalent disorder that affects approximately 2% of the general adult population. Surgical aortic valve replacement is the gold standard treatment for symptomatic patients. This treatment has demonstrably proven to be both safe and effective. Over the last few decades, in an attempt to reduce surgical trauma, different minimally invasive approaches for aortic valve replacement have been developed and are now being increasingly utilized. A narrative review of the literature was carried out to describe the surgical techniques for minimally invasive aortic valve surgery and report the results from different experienced centers. Minimally invasive aortic valve replacement is associated with low perioperative morbidity, mortality and a low conversion rate to full sternotomy. Long-term survival appears to be at least comparable to that reported for conventional full sternotomy. Minimally invasive aortic valve surgery, either with a partial upper sternotomy or a right anterior minithoracotomy provides early- and long-term benefits. Given these benefits, it may be considered the standard of care for isolated aortic valve disease. PMID:27582764

  1. Saccular Aneurysms of the Transverse Aortic Arch: Treatment Options Available in the Endovascular EraBased on a Presentation at the 2013 VEITH Symposium, November 19-23, 2013 (New York, NY, USA).

    PubMed

    Preventza, Ourania; Coselli, Joseph S

    2015-04-01

    Saccular aneurysms of the aortic arch, whether single or multiple, are uncommon. The choice of repair technique is influenced by patients' comorbidities and age. Repairing saccular aneurysms with traditional open techniques can be technically demanding; therefore, endovascular technology and a variety of hybrid approaches have been developed to facilitate such repairs and, potentially, to improve clinical outcomes, especially in high-risk patients. There have been no large, randomized studies to compare the outcomes of these different treatment options in patients with single or multiple saccular aneurysms of the arch. In this review, we outline the etiology and common locations of these aneurysms, the different open, completely endovascular, and hybrid techniques used to treat them, and the treatment selection process. PMID:26798759

  2. [Pannus Formation Two Years after Bioprosthetic Aortic Valve Implantation;Report of a Case].

    PubMed

    Ono, Kimiyo; Kuroda, Hiroaki

    2015-08-01

    We report a case of early deterioration of the bioprosthetic aortic valve 23 months postoperatively. A 77-year-old man who had undergone aortic valve replacement with a 23-mm Epic valve( St. Jude Medical [SJM])presented to us after a syncopal episode. Echocardiography revealed severe aortic stenosis, and redo aortic valve replacement with a 21-mm SJM mechanical valve was performed. All 3 cusps of the tissue valve were thickened by fibrous pannus overgrowth. Neither calcification nor invasion of inflammatory cells was observed. The cause of pannus formation at such an early stage after implantation remains unknown. PMID:26329714

  3. Management of severe asymmetric pectus excavatum complicating aortic repair in a patient with Marfan's syndrome.

    PubMed

    Yeung, Jonathan C; Marcuzzi, Danny; Peterson, Mark D; Ko, Michael A

    2016-05-01

    We describe the case of a 28-year old man with Marfan's syndrome and severe pectus excavatum who required an aortic root replacement for an ascending aortic aneurysm. There was a near-vertical angulation of the sternum that presented challenges with opening and exposure of the heart during aortic surgery. Furthermore, removal of the sternal retractor after aortic repair resulted in sudden loss of cardiac output. A Ravitch procedure was then performed to successfully close the chest without further cardiovascular compromise. We propose that patients with a severe pectus excavatum and mediastinal displacement seen on preoperative CT scanning should be considered for simultaneous, elective repair. PMID:26874148

  4. Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt).

    PubMed

    Sawada, Kazuhiko; Saito, Shigeyoshi; Sugasawa, Akari; Sato, Chika; Aoyama, Junya; Ohara, Naoko; Horiuchi-Hirose, Miwa; Kobayashi, Tetsuya

    2016-07-01

    Growth-retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)-based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito-temporal regions, which were demarcated by structural landmarks on coronal CT images. A region-specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in grt/grt mice rather than in both heterozygous (grt/+) and wild-type (+/+) mice. We concluded that the cortical hypoplasia in grt/grt was seen in identical cortical regions corresponding to human congenital hypothyroidism. PMID:26915353

  5. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.

    PubMed Central

    Hay, I D; Smail, P J; Forsyth, C C

    1981-01-01

    Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotropism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure. PMID:7197507

  6. Mediastinal stabilization by an expansion prosthesis in postoperative congenital diaphragmatic hernia with severe pulmonary hypoplasia.

    PubMed

    Becmeur, F; Horta, P; Christmann, D; Donato, L; Livolsi, A; de Geeter, B; Sauvage, P

    1995-10-01

    The authors illustrate a case of right neonatal congenital diaphragmatic hernia (CDH) of Bochdalek with major pulmonary hypoplasia and postoperative massive mediastinal displacement to the right, leading to tracheal compression and recurrent respiratory distress at every attempt to wean the infant from the ventilator. Mediastinal stabilization was obtained by placing an expansion prosthesis (of the cutaneous type) in the right hemithorax, to prevent mediastinal obstruction of the main airways. This procedure may prove to be an original and efficient solution for the critical postoperative respiratory obstruction due to severe pulmonary hypoplasia and mediastinal mass effect in the newborn with CDH. However, this may not prevent progressive scoliosis, a serious problem frequently seen in the absence of one lung. PMID:8555135

  7. Spontaneous aortic dissecting hematoma in two dogs.

    PubMed

    Boulineau, Theresa Marie; Andrews-Jones, Lydia; Van Alstine, William

    2005-09-01

    This report describes 2 cases of spontaneous aortic dissecting hematoma in young Border Collie and Border Collie crossbred dogs. Histology was performed in one of the cases involving an unusual splitting of the elastin present within the wall of the aorta, consistent with elastin dysplasia as described in Marfan syndrome in humans. The first case involved a young purebred Border Collie that died suddenly and the second case involved a Border Collie crossbred dog that died after a 1-month history of seizures. Gross lesions included pericardial tamponade with dissection of the ascending aorta in the former case and thoracic cavity hemorrhage, mediastinal hematoma, and aortic dissection in the latter. Histologic lesions in the case of the Border Collie crossbred dog included a dissecting hematoma of the ascending aorta with elastin dysplasia and right axillary arterial intimal proliferation. PMID:16312247

  8. Geometry of aortic heart valves. [prosthetic design

    NASA Technical Reports Server (NTRS)

    Karara, H. M.

    1975-01-01

    Photogrammetric measurements of the surface topography of the aortic valves obtained from silicon rubber molds of freshly excised human aortic valves are presented. The data are part of an investigation into the design of a new prosthetic valve which will be a central-flow device, like the real valve and unlike previous central-occluding prostheses. Since the maximum stress on the heart valve is induced when the valve is closed and subject to diastolic back-pressure, it was decided to determine the valve geometry during diastole. That is, the molds were formed by pouring the rubber down the excised aortas, causing the valves to close. The molds were made under different pressures (20-120 torr); photogrammetry served as a vehicle for the assessment of the mold topography through the following outputs: digital models, surface profiles, and contour maps.

  9. Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

    PubMed Central

    Guo, Dong-chuan; Regalado, Ellen; Casteel, Darren E.; Santos-Cortez, Regie L.; Gong, Limin; Kim, Jeong Joo; Dyack, Sarah; Horne, S. Gabrielle; Chang, Guijuan; Jondeau, Guillaume; Boileau, Catherine; Coselli, Joseph S.; Li, Zhenyu; Leal, Suzanne M.; Shendure, Jay; Rieder, Mark J.; Bamshad, Michael J.; Nickerson, Deborah A.; Kim, Choel; Milewicz, Dianna M.

    2013-01-01

    Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thoracic aortic disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four families. This mutation segregated with aortic disease in these families with a combined two-point LOD score of 7.88. The majority of affected individuals presented with acute aortic dissections (63%) at relatively young ages (mean 31 years, range 17–51 years). PRKG1 encodes type I cGMP-dependent protein kinase (PKG-1), which is activated upon binding of cGMP and controls SMC relaxation. Although the p.Arg177Gln alteration disrupts binding to the high-affinity cGMP binding site within the regulatory domain, the altered PKG-1 is constitutively active even in the absence of cGMP. The increased PKG-1 activity leads to decreased phosphorylation of the myosin regulatory light chain in fibroblasts and is predicted to cause decreased contraction of vascular SMCs. Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic aortic disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime. PMID:23910461

  10. Assessment of the influence of the compliant aortic root on aortic valve mechanics by means of a geometrical model.

    PubMed

    Redaelli, A; Di Martino, E; Gamba, A; Procopio, A M; Fumero, R

    1997-12-01

    In recent years several researchers have suggested that the changes in the geometry and angular dimensions of the aortic root which occur during the cardiac cycle are functional to the optimisation of aortic valve function, both in terms of diminishing leaflet stresses and of fluid-dynamic behaviour. The paper presents an analytical parametric model of the aortic valve which includes the aortic root movement. The indexes used to evaluate the valve behaviour are the circumferential membrane stress and the stress at the free edge of the leaflet, the index of bending strain, the bending of the leaflet at the line attachment in the radial and circumferential directions and the shape of the conduit formed by the leaflets during systole. In order to evaluate the role of geometric changes in valve performance, two control cases were considered, with different reference geometric configuration, where the movement of the aortic root was ignored. The results obtained appear consistent with physiological data, especially with regard to the late diastolic phase and the early ejection phase, and put in evidence the role of the aortic root movement in the improvement of valve behaviour. PMID:9450254

  11. Total aortic repair: the new paradigm in the treatment of acute type A aortic dissection.

    PubMed

    Matalanis, George; Perera, Nisal K; Galvin, Sean D

    2016-05-01

    The surgical management of acute type A aortic dissection (ATAAD) is in a period of rapid evolution. Understanding the complex physiology and anatomy of both acute and chronic dissection has been enhanced by the ready availability of state of the art imaging techniques. Technical advances in the intraoperative monitoring of organ perfusion, together with adjuncts to limit organ injury and increasing sophistication in open and endovascular surgery have led to a major reduction in both perioperative morbidity and mortality. In many centers, there has been a transition in mindset and surgical approach away from a purely central aortic operation focusing on the ascending aorta and a 'live to fight another day' philosophy. The current more global perspective recognizes the importance of aortic valve function, malperfusion, false lumen (FL) patency and the potential for future complex aneurysm development. The time is now right to transition into the next phase of sophistication in the management of ATAAD with the aim of achieving not only a safe acute operation, but to either entirely prevent chronic complications or to greatly simplify their management by the creation of an anatomical situation that facilitates future endovascular intervention in place of complex re-do surgery. We present our view on the evolution of surgery for ATAAD leading to our current technique of Branch First Arch replacement and Total Aortic Repair, which not only provides a safe immediate operation, but also offers the hope of a simplified future management if not a total cure for the pathology. PMID:27386409

  12. Has percutaneous aortic valve replacement taken center stage in the treatment of aortic valve disease?

    PubMed

    Kumar, Gideon Praveen; Cui, Fangsen; Mathew, Lazar; Leo, Hwa Liang

    2013-01-01

    Modern biomedical advances have propelled percutaneous valve replacement into an effective and powerful therapy for many heart valve diseases, especially aortic valve stenosis. Experiences so far suggest that outcomes for new percutaneous valve replacement surgery compare favorably with that of traditional valve surgery in selected patients with severe symptomatic aortic stenosis. The inception of percutaneous aortic valve replacement (PAVR) began in 1992 when the potential for treating valve diseases was demonstrated through a modern technique of endoluminal deployment of a catheter-mounted crimped stented heart valve in an animal model. The first successful demonstration of such novel technique of surgical replacement of a heart valve was performed in 2002, when valve implantation in a patient with aortic stenosis was reported. Despite initial stumbles and a perception of being an uphill task, PAVR has emerged as one of the breakthroughs in surgical procedures. More than 1500 citations were found in PubMed, half of which were available after 2011. This is primarily because more than 50,000 procedures are being performed in more than 40 countries worldwide, with encouraging outcomes, and several stented valves have been launched in the market. This review provides a detailed analysis of the current state of the art of PAVR. Moreover, a competitive landscape of various devices available in the market and their design considerations, biomaterial selections, and overall hemodynamic performance are presented. PMID:24941416

  13. Total aortic repair: the new paradigm in the treatment of acute type A aortic dissection

    PubMed Central

    Perera, Nisal K.; Galvin, Sean D.

    2016-01-01

    The surgical management of acute type A aortic dissection (ATAAD) is in a period of rapid evolution. Understanding the complex physiology and anatomy of both acute and chronic dissection has been enhanced by the ready availability of state of the art imaging techniques. Technical advances in the intraoperative monitoring of organ perfusion, together with adjuncts to limit organ injury and increasing sophistication in open and endovascular surgery have led to a major reduction in both perioperative morbidity and mortality. In many centers, there has been a transition in mindset and surgical approach away from a purely central aortic operation focusing on the ascending aorta and a ‘live to fight another day’ philosophy. The current more global perspective recognizes the importance of aortic valve function, malperfusion, false lumen (FL) patency and the potential for future complex aneurysm development. The time is now right to transition into the next phase of sophistication in the management of ATAAD with the aim of achieving not only a safe acute operation, but to either entirely prevent chronic complications or to greatly simplify their management by the creation of an anatomical situation that facilitates future endovascular intervention in place of complex re-do surgery. We present our view on the evolution of surgery for ATAAD leading to our current technique of Branch First Arch replacement and Total Aortic Repair, which not only provides a safe immediate operation, but also offers the hope of a simplified future management if not a total cure for the pathology. PMID:27386409

  14. Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

    PubMed

    Narayanan, Dhanya Lakshmi; Shukla, Anju; Siddesh, Anju Rani; Stephen, Joshi; Srivastava, Priyanka; Mandal, Kausik; Phadke, Shubha R

    2016-09-01

    Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation, stressing the need to screen for this mutation in Indian population having features of cartilage-hair hypoplasia. PMID:26830278

  15. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

    PubMed

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien

    2013-05-01

    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus. PMID:23416624

  16. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    PubMed

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma. PMID:26925569

  17. Gross enamel hypoplasia in molars from subadults in a 16th-18th century London graveyard.

    PubMed

    Ogden, A R; Pinhasi, R; White, W J

    2007-07-01

    Dental Enamel Hypoplasia has long been used as a common nonspecific stress indicator in teeth from archaeological samples. Most researchers report relatively minor linear and pitted hypoplastic defects on tooth crown surfaces. In this work we report a high prevalence and early age of onset of extensive enamel defects in deciduous and permanent molars in the subadults from the post-medieval cemetery of Broadgate, east central London. Analysis of the dentition of all 45 subadults from the cemetery, using both macroscopic and microscopic methods, reveals disturbed cusp patterns and pitted, abnormal and arrested enamel formation. Forty-one individuals from this group (93.2%) showed some evidence of enamel hypoplasia, 28 of them showing moderate or extensive lesions of molars, deciduous or permanent (63.6% of the sample). Scanning Electron Microscope images reveal many molars with grossly deformed cuspal architecture, multiple extra cusps and large areas of exposed Tomes' process pits, where the ameloblasts have abruptly ceased matrix production, well before normal completion. This indented, rough and poorly mineralized surface facilitates both bacterial adhesion and tooth wear, and when such teeth erupt fully into the mouth they are likely to wear and decay rapidly. We suggest that this complex combination of pitted and plane-form lesions, combined with disruption of cusp pattern and the formation of multiple small cusps, should henceforth be identified as "Cuspal Enamel Hypoplasia." PMID:17492667

  18. Reoperative Aortic Root Replacement in Patients with Previous Aortic Root or Aortic Valve Procedures

    PubMed Central

    Chong, Byung Kwon; Jung, Sung-Ho; Choo, Suk Jung; Chung, Cheol Hyun; Lee, Jae Won; Kim, Joon Bum

    2016-01-01

    Background Generalization of standardized surgical techniques to treat aortic valve (AV) and aortic root diseases has benefited large numbers of patients. As a consequence of the proliferation of patients receiving aortic root surgeries, surgeons are more frequently challenged by reoperative aortic root procedures. The aim of this study was to evaluate the outcomes of redo-aortic root replacement (ARR). Methods We retrospectively reviewed 66 patients (36 male; mean age, 44.5±9.5 years) who underwent redo-ARR following AV or aortic root procedures between April 1995 and June 2015. Results Emergency surgeries comprised 43.9% (n=29). Indications for the redo-ARR were aneurysm (n=12), pseudoaneurysm (n=1), or dissection (n=6) of the residual native aortic sinus in 19 patients (28.8%), native AV dysfunction in 8 patients (12.1%), structural dysfunction of an implanted bioprosthetic AV in 19 patients (28.8%), and infection of previously replaced AV or proximal aortic grafts in 30 patients (45.5%). There were 3 early deaths (4.5%). During follow-up (median, 54.65 months; quartile 1–3, 17.93 to 95.71 months), there were 14 late deaths (21.2%), and 9 valve-related complications including reoperation of the aortic root in 1 patient, infective endocarditis in 3 patients, and hemorrhagic events in 5 patients. Overall survival and event-free survival rates at 5 years were 81.5%±5.1% and 76.4%±5.4%, respectively. Conclusion Despite technical challenges and a high rate of emergency conditions in patients requiring redo-ARR, early and late outcomes were acceptable in these patients. PMID:27525233

  19. Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993).

    PubMed Central

    Kitchiner, D.; Jackson, M.; Walsh, K.; Peart, I.; Arnold, R.

    1996-01-01

    OBJECTIVE: To determine the prognosis of supravalve aortic stenosis into early adult life and the factors affecting this prognosis. DESIGN: 81 patients with supravalve aortic stenosis were followed for a median duration of 8.3 (range 1 to 29) years. PATIENTS: 40 patients (49.4%) had Williams' syndrome, 18 (22.2%) familial supravalve aortic stenosis, 18 (22.2%) sporadic supravalve aortic stenosis, and five (6.2%) other syndromes. Nineteen patients had additional levels of left ventricular outflow tract obstruction. RESULTS: 47 patients (58%) underwent operation; 20% within a year of presentation. Multivariable analysis predicted that 88% of patients would undergo intervention within 30 years of follow up. The chance of intervention was increased by more severe aortic stenosis at presentation and the presence of multilevel obstruction in patients with sporadic supravalve aortic stenosis. Three deaths occurred before operation and 13 within a month of operation. Ten (62.5%) of the postoperative deaths were in patients with multilevel obstruction. Predicted survival 30 years after presentation was 66%. Risk factors for survival were age and severity of aortic stenosis at presentation. Multilevel obstruction did not emerge as a significant risk factor for death because of the high association with the severity of stenosis at presentation. 74% of survivors had mild or insignificant stenosis at follow up. CONCLUSIONS: Long-term survival is related to age and the severity of aortic stenosis at presentation. Most patients will require intervention, and most survivors will have mild stenosis. PMID:8705769

  20. Aortic dissection--an update.

    PubMed

    Mukherjee, Debabrata; Eagle, Kim A

    2005-06-01

    Acute aortic dissection is a medical emergency with high morbidity and mortality requiring emergent diagnosis and therapy. Rapid advances in noninvasive imaging technology have facilitated the early diagnosis of this condition and should be considered in the differential diagnosis of any patient with chest, back, or abdominal pain. Emergent surgery is the treatment for patients with type A dissection while optimal medical therapy is appropriate in patients with uncomplicated type B dissection. Adequate beta-blockade is the cornerstone of medical therapy. Patients who survive acute aortic dissection need long-term medical therapy with beta-blockers and statins and appropriate serial imaging follow-up. Future advances in this field include biomarkers in the early diagnosis of acute aortic dissection and presymptomatic diagnosis with genetic screening. Overall patients with aortic dissection are at high risk for an adverse outcome and need to be managed aggressively in hospital and long term with frequent follow-up. PMID:15973249

  1. Delayed aortic rupture after aortic endograft placement in patient with spinal hardware.

    PubMed

    Bavare, Charudatta; Kim, Min; Blackmon, Shanda; Ellsworth, Warren; Davies, Mark G; Reardon, Michael J

    2011-10-01

    Aortic injuries presenting in a delayed fashion after attempted repair of an acute injury are uncommon. We report a case of a patient presenting with an initial aortic injury associated with thoracic spinal hardware placement, which was repaired with an open and endovascular approach, and 5 months later presented with hemoptysis. The cause of hemoptysis was erosion of the descending thoracic aorta between the spinal hardware and the thoracic endograft. The patient underwent descending aorta replacement with a Dacron tube graft, removal of the hardware, and coverage with a pedicled omental flap. This is a unique presentation of erosion of the aorta between the spinal hardware and the earlier placed endovascular stent-graft. PMID:21958807

  2. Enamel hypoplasia in the deciduous teeth of great apes: variation in prevalence and timing of defects.

    PubMed

    Lukacs, J R

    2001-11-01

    The prevalence of enamel hypoplasia in the deciduous teeth of great apes has the potential to reveal episodes of physiological stress in early stages of ontogenetic development. However, little is known about enamel defects of deciduous teeth in great apes. Unresolved questions addressed in this study are: Do hypoplastic enamel defects occur with equal frequency in different groups of great apes? Are enamel hypoplasias more prevalent in the deciduous teeth of male or female apes? During what phase of dental development do enamel defects tend to form? And, what part of the dental crown is most commonly affected? To answer these questions, infant and juvenile skulls of two sympatric genera of great apes (Gorilla and Pan) were examined for dental enamel hypoplasias. Specimens from the Powell-Cotton Museum (Quex Park, UK; n = 107) are reported here, and compared with prior findings based on my examination of juvenile apes at the Cleveland Museum of Natural History (Hamman-Todd Collection; n = 100) and Smithsonian Institution (National Museum of Natural History; n = 36). All deciduous teeth were examined by the author with a x10 hand lens, in oblique incandescent light. Defects were classified using Fédération Dentaire International (FDI)/Defects of Dental Enamel (DDE) standards; defect size and location on the tooth crown were measured and marked on dental outline charts. Enamel defects of ape deciduous teeth are most common on the labial surface of canine teeth. While deciduous incisor and molar teeth consistently exhibit similar defects with prevalences of approximately 10%, canines average between 70-75%. Position of enamel defects on the canine crown was analyzed by dividing it into three zones (apical, middle, and cervical) and calculating defect prevalence by zone. Among gorillas, enamel hypoplasia prevalence increases progressively from the apical zone (low) to the middle zone to the cervical zone (highest), in both maxillary and mandibular canine teeth

  3. Non coding RNAs in aortic aneurysmal disease

    PubMed Central

    Duggirala, Aparna; Delogu, Francesca; Angelini, Timothy G.; Smith, Tanya; Caputo, Massimo; Rajakaruna, Cha; Emanueli, Costanza

    2015-01-01

    An aneurysm is a local dilatation of a vessel wall which is >50% its original diameter. Within the spectrum of cardiovascular diseases, aortic aneurysms are among the most challenging to treat. Most patients present acutely after aneurysm rupture or dissection from a previous asymptomatic condition and are managed by open surgical or endovascular repair. In addition, patients may harbor concurrent disease contraindicating surgical intervention. Collectively, these factors have driven the search for alternative methods of identifying, monitoring and treating aortic aneurisms using less invasive approaches. Non-coding RNA (ncRNAs) are emerging as new fundamental regulators of gene expression. The small microRNAs have opened the field of ncRNAs capturing the attention of basic and clinical scientists for their potential to become new therapeutic targets and clinical biomarkers for aortic aneurysm. More recently, long ncRNAs (lncRNAs) have started to be actively investigated, leading to first exciting reports, which further suggest their important and yet largely unexplored contribution to vascular physiology and disease. This review introduces the different ncRNA types and focus at ncRNA roles in aorta aneurysms. We discuss the potential of therapeutic interventions targeting ncRNAs and we describe the research models allowing for mechanistic studies and clinical translation attempts for controlling aneurysm progression. Furthermore, we discuss the potential role of microRNAs and lncRNAs as clinical biomarkers. PMID:25883602

  4. Non coding RNAs in aortic aneurysmal disease.

    PubMed

    Duggirala, Aparna; Delogu, Francesca; Angelini, Timothy G; Smith, Tanya; Caputo, Massimo; Rajakaruna, Cha; Emanueli, Costanza

    2015-01-01

    An aneurysm is a local dilatation of a vessel wall which is >50% its original diameter. Within the spectrum of cardiovascular diseases, aortic aneurysms are among the most challenging to treat. Most patients present acutely after aneurysm rupture or dissection from a previous asymptomatic condition and are managed by open surgical or endovascular repair. In addition, patients may harbor concurrent disease contraindicating surgical intervention. Collectively, these factors have driven the search for alternative methods of identifying, monitoring and treating aortic aneurisms using less invasive approaches. Non-coding RNA (ncRNAs) are emerging as new fundamental regulators of gene expression. The small microRNAs have opened the field of ncRNAs capturing the attention of basic and clinical scientists for their potential to become new therapeutic targets and clinical biomarkers for aortic aneurysm. More recently, long ncRNAs (lncRNAs) have started to be actively investigated, leading to first exciting reports, which further suggest their important and yet largely unexplored contribution to vascular physiology and disease. This review introduces the different ncRNA types and focus at ncRNA roles in aorta aneurysms. We discuss the potential of therapeutic interventions targeting ncRNAs and we describe the research models allowing for mechanistic studies and clinical translation attempts for controlling aneurysm progression. Furthermore, we discuss the potential role of microRNAs and lncRNAs as clinical biomarkers. PMID:25883602

  5. Transcatheter Aortic Valve-in-Valve Replacement Instead of a 4th Sternotomy in a 21-Year-Old Woman with Aortic Homograft Failure

    PubMed Central

    Díez, José G.; Schechter, Michael; Dougherty, Kathryn G.; Preventza, Ourania

    2016-01-01

    Transcatheter aortic valve replacement (TAVR) is a well-established method for replacing native aortic valves; however, it was conceived for elderly patients with aortic valve stenosis, and the lack of data on long-term durability has led practitioners to restrict the use of TAVR to patients who have short life expectancies. Here, we describe the case of a 21-year-old woman who had undergone 3 previous open aortic valve replacements and who presented with symptoms of recurrent valvular failure. Transthoracic echocardiograms and computed tomographic angiograms revealed a degenerating aortic root homograft with substantial calcification, moderate-to-severe aortic valve stenosis, and severe aortic valve regurgitation. Open surgical valve replacement posed substantial risk to our patient, so we decided to perform valve-in-valve TAVR with use of the Edwards Sapien XT Transcatheter Heart Valve. The patient's pulmonary artery pressure, valvular regurgitation, and symptoms improved substantially thereafter. We found that valve-in-valve TAVR into a failing aortic root homograft was less invasive than repeat surgical valve replacement in this young patient who had congenital vascular anomalies and a complex surgical history. PMID:27547146

  6. Repair of anastomotic abdominal aortic pseudoaneurysm utilizing sequential AneuRx aortic cuffs in an overlapping configuration.

    PubMed

    Zhou, Wei; Bush, Ruth L; Bhama, Jay K; Lin, Peter H; Safaya, Rakesh; Lumsden, Alan B

    2006-01-01

    Anastomotic aortic pseudoaneurysm is a known late complication following aortic repair and presents a considerable surgical challenge. We herein evaluate the endovascular alternative of using sequential AneuRx aortic cuffs to bridge the degenerative anastomotic pseudoaneurysms as a definitive treatment. Over a 3-year period, six patients with a mean age of 68.7 years (range 58-75) were identified who had proximal anastomotic aortic pseudoaneurysms secondary to previously implanted bifurcated aortic grafts (mean 15, range 12-20 years) following open surgical correction of aortoiliac occlusive disease. Five patients (83%) presented with concomitant palpable femoral anastomotic pseudoaneurysms and one patient (16%) had a pulsatile abdominal mass. All patients had computed tomographic (CT) scans confirming proximal anastomotic pseudoaneuryms without evidence of infection. The mean diameter of the pseudoaneurysms was 5.3 cm (range 4.0-7.0). Five patients were treated with endovascular methods, while one patient was not suitable for endovascular repair due to the diameter of the native aorta as seen on imaging study at the time of the procedure. AneuRx aortic extender cuffs (3.75 cm length) were deployed sequentially in five patients via a femoral approach. Devices were overlapped approximately 1.5 cm in order to achieve total exclusion of the pseudoaneurysms, and all concomitant femoral aneurysms were repaired surgically at the same time. Successful exclusion of the anastomotic pseudoaneurysm was achieved in four patients (80%) using a combination of two or three overlapping aortic cuffs. One patient had a small residual endoleak that had sealed by 1 month, evidenced by follow-up CT. The renal arteries were preserved in all patients. The average estimated blood loss and operative time were 355 +/- 25 cc and 84 +/- 21 min, respectively. The average length of hospital stay was 2.1 days, and there was no mortality or major morbidity. All patients underwent CT scanning

  7. Mediastinal Packing for Intractable Coagulopathy in Acute Aortic Dissection (Types 1 and 2 DeBakey): A Life-Saving Technique—Report of Experiences

    PubMed Central

    Moeinipour, Aliasghar; Fathi, Mehdi; Sepehri Shamloo, Alireza; Amini, Shahram; Hoseinikhah, Hamid; Kianinejad, Akram

    2015-01-01

    Nonsurgical bleeding after complex thoracic aortic procedures (such as aortic dissection and aortic aneurysm) is a great challenge for cardiac surgeons because of severe coagulopathy, exsanguinous bleeding, and inevitable death. Temporary mediastinal packing (with sponge) in such cases is the only life-saving technique with good result in most cases. Herein, we presented three cases with acute aortic dissection with intractable bleeding that was successfully managed with mediastinal packing. PMID:26435855

  8. Chronic type B aortic dissection: indications and strategies for treatment.

    PubMed

    Rohlffs, F; Tsilimparis, N; Diener, H; Larena-Avellaneda, A; Von Kodolitsch, Y; Wipper, S; Debus, E S; Kölbel, T

    2015-04-01

    Chronic type B aortic dissection is a distinctive condition that needs individual treatment strategies and different considerations than in therapy of acute or subacute type B aortic dissection. The most common indication for treatment of this complex disease is aneurysmal dilatation of the dissected aortic segment. While open repair of the enlarged dissected aorta remains the best option for good-risk patients and patients with connective tissue disorders in high-volume centers with respective expertise, endovascular management of chronic type B aortic dissection with postdissection aneurysms has significantly gained ground in the past years. But the concept of TEVAR with implantation of a tubular stent-graft into the thoracic aorta to seal the proximal entry tear and reroute the blood flow into the true lumen alone, is not associated with satisfactory results. This is mainly due to the sparse remodeling capacity of the aortic tissue compared to earlier stages of the disease as the aortic wall and the dissection membrane are thickened and more rigid. On the other hand, it is restricted by the most limiting factor for endovascular success in chronic type B aortic dissection: persistent false lumen perfusion. This problem also affects patients with residual dissection after surgical repair of a DeBakey type I aortic dissection or dissection after ascending aortic repair for other pathologies. Hence, it is evident that strategies to achieve endovascular false lumen occlusion are of increasing importance and novel techniques have been introduced to solve the problem of persisting false lumen flow. Thus, the evolution of a large variety of techniques to address the false lumen perfusion issue indicates that complicated chronic type B dissection involves a high diversity in clinical presentation and morphology. A large armamentarium of catheter skills as well as critical individualized treatment strategies are required to address the heterogenous morphological disease

  9. Salvage Extracorporeal Membrane Oxygenation Prior to "Bridge" Transcatheter Aortic Valve Replacement.

    PubMed

    Chiu, Peter; Fearon, William F; Raleigh, Lindsay A; Burdon, Grayson; Rao, Vidya; Boyd, Jack H; Yeung, Alan C; Miller, David Craig; Fischbein, Michael P

    2016-06-01

    We describe a patient who presented in profound cardiogenic shock due to bioprosthetic aortic valve stenosis requiring salvage Extracorporeal Membrane Oxygenation followed by a "bridge" valve-in-valve transcatheter aortic valve replacement. doi: 10.1111/jocs.12750 (J Card Surg 2016;31:403-405). PMID:27109017

  10. Severe Systolic Anterior Motion After Aortic Valve Replacement and Cox MAZE Surgery.

    PubMed

    den Uil, Corstiaan A; Ter Horst, Maarten; Akin, Sakir; Galema, Tjebbe W

    2016-07-01

    Surgical aortic valve replacement may be complicated by severe dynamic left ventricular outflow tract obstruction and cardiogenic shock in the postoperative period. We present a patient who developed severe anterior motion following aortic valve and Cox MAZE surgery which necessitated a mitral valve replacement. doi: 10.1111/jocs.12763 (J Card Surg 2016;31:429-431). PMID:27212634

  11. Intramural hematoma or aortic dissection – a diagnostic and therapeutic problem. A case report

    PubMed Central

    Suder, Bogdan; Wasilewski, Grzegorz; Sadowski, Jerzy; Kapelak, Bogusław

    2015-01-01

    The authors present a case report of a 60-year-old patient with an ascending aortic aneurysm along with the associated diagnostic and therapeutic problems. The choice of therapy in patients with aortic intramural hematoma is difficult and should be based on comprehensive evaluation of the patient's status as well as on the experience of the radiologist and surgeon. PMID:26702280

  12. Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development

    PubMed Central

    Laffaire, Julien; Rivals, Isabelle; Dauphinot, Luce; Pasteau, Fabien; Wehrle, Rosine; Larrat, Benoit; Vitalis, Tania; Moldrich, Randal X; Rossier, Jean; Sinkus, Ralph; Herault, Yann; Dusart, Isabelle; Potier, Marie-Claude

    2009-01-01

    responsible for the cerebellar hypoplasia in Down syndrome, a global destabilization of gene expression was not detected. Altogether these results strongly suggest that the three-copy genes are directly responsible for the phenotype present in cerebellum. We provide here a short list of candidate genes. PMID:19331679

  13. SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

    PubMed Central

    Parry, David A.; Logan, Clare V.; Stegmann, Alexander P.A.; Abdelhamed, Zakia A.; Calder, Alistair; Khan, Shabana; Bonthron, David T.; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E.; Dobbie, Angus; Stumpel, Constance T.R.M.; Johnson, Colin A.

    2013-01-01

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives. PMID:24290375

  14. Early Outcomes of Sutureless Aortic Valves

    PubMed Central

    Hanedan, Muhammet Onur; Mataracı, İlker; Yürük, Mehmet Ali; Özer, Tanıl; Sayar, Ufuk; Arslan, Ali Kemal; Ziyrek, Uğur; Yücel, Murat

    2016-01-01

    Background In elderly high-risk surgical patients, sutureless aortic valve replacement (AVR) should be an alternative to standard AVR. The potential advantages of sutureless aortic prostheses include reducing cross-clamping and cardiopulmonary bypass (CPB) time and facilitating minimally invasive surgery and complex cardiac interventions, while maintaining satisfactory hemodynamic outcomes and low rates of paravalvular leakage. The current study reports our single-center experience regarding the early outcomes of sutureless aortic valve implantation. Methods Between October 2012 and June 2015, 65 patients scheduled for surgical valve replacement with symptomatic aortic valve disease and New York Heart Association function of class II or higher were included to this study. Perceval S (Sorin Biomedica Cardio Srl, Sallugia, Italy) and Edwards Intuity (Edwards Lifesciences, Irvine, CA, USA) valves were used. Results The mean age of the patients was 71.15±8.60 years. Forty-four patients (67.7%) were female. The average preoperative left ventricular ejection fraction was 56.9±9.93. The CPB time was 96.51±41.27 minutes and the cross-clamping time was 60.85±27.08 minutes. The intubation time was 8.95±4.19 hours, and the intensive care unit and hospital stays were 2.89±1.42 days and 7.86±1.42 days, respectively. The mean quantity of drainage from chest tubes was 407.69±149.28 mL. The hospital mortality rate was 3.1%. A total of five patients (7.69%) died during follow-up. The mean follow-up time was 687.24±24.76 days. The one-year survival rate was over 90%. Conclusion In the last few years, several models of valvular sutureless bioprostheses have been developed. The present study evaluating the single-center early outcomes of sutureless aortic valve implantation presents the results of an innovative surgical technique, finding that it resulted in appropriate hemodynamic conditions with acceptable ischemic time. PMID:27298793

  15. Chest CT scanning for clinical suspected thoracic aortic dissection: beware the alternate diagnosis.

    PubMed

    Thoongsuwan, Nisa; Stern, Eric J

    2002-11-01

    The aim of the study was retrospectively to evaluate the spectrum of chest diseases in patients presenting with clinical suspicion of thoracic aortic dissection in the emergency department. We performed a retrospective medical records review of 86 men and 44 women (ages ranging between 23 and 106 years) with clinically suspected aortic dissection, for CT scan findings and final clinical diagnoses dating between January 1996 and September 2001. All images were obtained by using a standard protocol for aortic dissection. We found aortic dissection in 32 patients (24.6%), 22 of which were Stanford classification type A and 10 Stanford type B. In 70 patients (53.9%), chest pain could not be explained by the CT scan findings. However, in 28 patients (21.5%), CT scanning did reveal an alternate diagnosis that, along with the clinical impression, probably explained the patients' presenting symptoms, including: hiatal hernia (7), pneumonia (5), intrathoracic mass (4), pericardial effusion/hemopericardium (3), esophageal mass/rupture (2), aortic aneurysm without dissection (2), pulmonary embolism (2), pleural effusion (1), aortic rupture (1), and pancreatitis (1). In cases where there is clinical suspicion of aortic dissection, CT scan findings of an alternate diagnosis for the presenting symptoms are only slightly less common than the finding of aortic dissection itself. Although the spectrum of findings will vary depending upon your patient population, beware the alternate diagnosis. PMID:15290550

  16. Salmonella aortitis treated with endovascular aortic repair: a case report

    PubMed Central

    2012-01-01

    Introduction Salmonella is a typical cause of aortitis, which is associated with high morbidity and mortality. In infrarenal disease, besides open surgery, endovascular aortic repair as an alternative treatment has been reported. To the best of our knowledge, we report the first successful endovascular aortic repair documented by necropsy to date. Case presentation A 67-year-old Caucasian man presented with low back pain, fever and positive blood cultures for Salmonella Enteritidis. A computed tomography scan showed an enlargement and intramural hematoma of the infrarenal aortic wall; a Salmonella aortitis was suspected and antimicrobial therapy initiated. Because of substantial comorbidities, endovascular aortic repair was favored over open surgery; postoperatively the antibiotic treatment was continued for 12 months. Post-mortem there were neither macroscopic nor microscopic signs of aortitis or graft infection. Conclusions We could demonstrate by necropsy that endovascular aortic repair of infrarenal aortitis with prolonged pre- and postinterventional antibiotic therapy for 12 months was a minimally invasive alternative and should be considered in selected clinically stable patients with substantial co-morbidities. PMID:22894684

  17. Coronary Flow Impacts Aortic Leaflet Mechanics and Aortic Sinus Hemodynamics

    PubMed Central

    Moore, Brandon L.; Dasi, Lakshmi Prasad

    2016-01-01

    Mechanical stresses on aortic valve leaflets are well-known mediators for initiating processes leading to calcific aortic valve disease. Given that non-coronary leaflets calcify first, it may be hypothesized that coronary flow originating from the ostia significantly influences aortic leaflet mechanics and sinus hemodynamics. High resolution time-resolved particle image velocimetry (PIV) measurements were conducted to map the spatiotemporal characteristics of aortic sinus blood flow and leaflet motion with and without physiological coronary flow in a well-controlled in vitro setup. The in vitro setup consists of a porcine aortic valve mounted in a physiological aorta sinus chamber with dynamically controlled coronary resistance to emulate physiological coronary flow. Results were analyzed using qualitative streak plots illustrating the spatiotemporal complexity of blood flow patterns, and quantitative velocity vector and shear stress contour plots to show differences in the mechanical environments between the coronary and non-coronary sinuses. It is shown that the presence of coronary flow pulls the classical sinus vorticity deeper into the sinus and increases flow velocity near the leaflet base. This creates a beneficial increase in shear stress and washout near the leaflet that is not seen in the non-coronary sinus. Further, leaflet opens approximately 10% farther into the sinus with coronary flow case indicating superior valve opening area. The presence of coronary flow significantly improves leaflet mechanics and sinus hemodynamics in a manner that would reduce low wall shear stress conditions while improving washout at the base of the leaflet. PMID:25636598

  18. Dental enamel growth, perikymata and hypoplasia in ancient tooth crowns.

    PubMed Central

    Hillson, S W

    1992-01-01

    This paper describes the hypoplastic defects commonly seen on the surface of ancient human tooth crowns, excavated from archaeological sites, and presents a new method for estimating the ages at which these defects were initiated during life. The method is based upon examination of microscopic incremental structures on the enamel surface and it is possible also to apply it to reconstruction of the sequence and timing of dental crown development. The method of examination is non-destructive and allows full use to be made of the large numbers of complete, unworn dentitions which are found amongst archaeological remains. Images Figure 1. Figure 4. PMID:1404194

  19. Cyclic RNA has-circ-000595 regulates apoptosis of aortic smooth muscle cells

    PubMed Central

    ZHENG, CHENGFEI; NIU, HUI; LI, MING; ZHANG, HONGKUN; YANG, ZHENGGANG; TIAN, LU; WU, ZIHENG; LI, DONGLIN; CHEN, XUDONG

    2015-01-01

    Aortic aneurysm is a cardiovascular condition with a serious risk of mortality and the dismal prognosis of any type of major cardiovascular disease. The present study found that tissues from aortic aneurysm patients and hypoxic aortic smooth muscle cells showed aberrant high expression of the cyclic RNA hsa-circ-000595, as demonstrated by polymerase chain reaction array screening. Knockdown of hsa-circ-000595 resulted in a decreased apoptotic rate of human aortic smooth muscle cells. Furthermore, it was determined that miR-19a is a target of hsa-circ-000595. The results of the present study laid an epigenetic foundation for exploring the underlying mechanisms of the development of aortic aneurysm. PMID:26324352

  20. Abdominal aortic aneurysm repair - open - discharge

    MedlinePlus

    AAA - open - discharge; Repair - aortic aneurysm - open - discharge ... You had open aortic aneurysm surgery to repair an aneurysm (a widened part) in your aorta, the large artery that carries blood to your ...

  1. Left Ventricular Outflow Tract Pseudoaneurysm after Aortic Valve Replacement

    PubMed Central

    Shariff, Masood A.; Martingano, Daniel; Khan, Usman; Goyal, Nikhil; Sharma, Raman; Rizvi, Syed B.; Motivala, Apurva; Asgarian, Kourosh T.; Nabagiez, John P.

    2015-01-01

    Left ventricular outflow tract pseudoaneurysm is an uncommon complication following aortic valve replacement (AVR), occurring most frequently secondary to endocarditis. We present a case of a 47-year-old female with a history of intravenous drug abuse and a past surgical history of two AVRs (2001 and 2009 with aortic root replacement for endocarditis) who presented with symptoms of lower extremity weakness. Subsequent radiologic imaging revealed the presence of a left ventricular outflow tract pseudoaneurysm, which was surgically managed with a homologous conduit. PMID:27175367

  2. Aortitis causing rapid growth of a mycotic aortic aneurysm

    PubMed Central

    Williams, Zoheb Berry; Ryden, Lauren E.; Organ, Nicole M.

    2016-01-01

    Mycotic infrarenal aortic aneurysms are rare and often masquerade as other abdominal pathology. We present a case where serial imaging made the diagnosis and provided an insight into the pathophysiology of mycotic aneurysm. A 71-year-old man presents with abdominal pain, rigours and dysuria. Computed tomography reveals an irregular, thickened ectatic abdominal aorta, but cholescintigraphy suggests acalculous cholecystitis. Deterioration prompts repeat radiographical assessment, which demonstrates an increase in the size of the aorta over 10 days. The patient was treated emergently with an open aortic ligation, debridement and extra-anatomical bypass. Infections account for up to 2% of abdominal aortic aneurysms. The rate of growth of mycotic aneurysms is sparsely discussed in the literature and to our knowledge, there are no reports with serial single-modality imaging. The most significant finding was rapid expansion in aneurysm size. While mycotic aneurysm requires urgent treatment, diagnosis can be delayed and difficult. PMID:27009324

  3. Pulmonary hypoplasia on preterm infant associated with diffuse chorioamniotic hemosiderosis caused by intrauterine hemorrhage due to massive subchorial hematoma: report of a neonatal autopsy case.

    PubMed

    Yamada, Sohsuke; Marutani, Takamitsu; Hisaoka, Masanori; Tasaki, Takashi; Nabeshima, Atsunori; Shiraishi, Mika; Sasaguri, Yasuyuki

    2012-08-01

    A male infant born prematurely at 31 weeks of gestation weighed 789 g and had mildly brown-colored oral/tracheal aspirates at delivery. The amniotic fluid was also discolored, and its index was below 5. The patient died of hypoxemic respiratory and cardiac failure 2 hours after birth. The maternal profiles showed placenta previa and intrauterine growth restriction (IUGR) at 22 weeks of gestation, and revealed recurrent episodes of antenatal and substantial vaginal bleeding and oligohydramnios, indicating chronic abruption-oligohydramnios sequence. The thickened placenta, weighing 275 g, grossly displayed unevenness and diffuse opacity with green to brown discoloration in the chorioamniotic surface, and revealed chronic massive subchorial hematomas (Breus' mole) with old peripheral blood clot, circumvallation, and infarction. Microscopically, diffuse Berlin-blue staining-positive hemosiderin deposits were readily encountered in the chorioamniotic layers of the chorionic plate, consistent with diffuse chorioamniotic hemosiderosis (DCH) due to Breus' mole, accompanied by diffuse amniotic necrosis. At autopsy, an external examination showed several surface anomalies and marked pulmonary hypoplasia, 0.006 (less 0.012) of lung:body weight ratio. Since Breus' mole has a close relationship with intrauterine hemorrhage, resulting in DCH, IUGR, and/or pulmonary hypoplasia of the newborn, the present features might be typical. PMID:22827763

  4. Mechanical failure (leaflet disruption) of a porcine aortic heterograft: rare cause of acute aortic insufficiency.

    PubMed

    Housman, L B; Pitt, W A; Mazur, J H; Litchford, B; Gross, S A

    1978-08-01

    Use of the Hancock, glutaraldehyde-preserved, stented heterograft for aortic valve replacement has gained wide acceptance in the past 7 years. Nevertheless, very little is known about the long-term mechanical and pathological characteristics following implantation. A rare case is presented in which mechanical valve failure occurred secondary to leaflet disruption in the absence of infection 23 months after implantation. The literature is reviewed and the implications of this unusual complication are discussed. PMID:567263

  5. A Novel Technique To Correct Multiplanar Maxillary Hypoplasia

    PubMed Central

    Charlu, Arun Paul; Chacko, Rabin Kurudamannil; Kumar, Saurabh

    2016-01-01

    Dental malocclusion and facial deformity are frequent observations in patients with clefts of the orofacial region. These patients have a low self perception secondary to their aesthetic appearance. Cleft palate patients are further affected in their speech and oral function with direct impediment to their quality of life. Early identification and treatment in cleft lip and palate patients may directly enhance their overall well being and productivity with sustainable prognosis when managed by skilled and evidence informed operators. We present a successful case management of a patient with a cleft palate and dentofacial deformity with a past surgical history, treated with an anterior maxillary advancement osteotomy, stabilized with an interpositional non vascular iliac bone graft. The posterior open bite was corrected using overlay full coverage crowns. Both these techniques are rarely reported in the literature. The procedure positively improved the quality of life in our patient with regards to her aesthetics, speech and function. This treatment approach could be considered in similar cases to achieve predictable outcomes. PMID:27190966

  6. A Novel Technique To Correct Multiplanar Maxillary Hypoplasia.

    PubMed

    Simon, Sibu Sajjan; Charlu, Arun Paul; Chacko, Rabin Kurudamannil; Kumar, Saurabh

    2016-04-01

    Dental malocclusion and facial deformity are frequent observations in patients with clefts of the orofacial region. These patients have a low self perception secondary to their aesthetic appearance. Cleft palate patients are further affected in their speech and oral function with direct impediment to their quality of life. Early identification and treatment in cleft lip and palate patients may directly enhance their overall well being and productivity with sustainable prognosis when managed by skilled and evidence informed operators. We present a successful case management of a patient with a cleft palate and dentofacial deformity with a past surgical history, treated with an anterior maxillary advancement osteotomy, stabilized with an interpositional non vascular iliac bone graft. The posterior open bite was corrected using overlay full coverage crowns. Both these techniques are rarely reported in the literature. The procedure positively improved the quality of life in our patient with regards to her aesthetics, speech and function. This treatment approach could be considered in similar cases to achieve predictable outcomes. PMID:27190966

  7. Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra

    ClinicalTrials.gov

    2016-03-09

    Aortic Valve Insufficiency; Aortic Valve Regurgitation; Aortic Valve Stenosis; Aortic Valve Incompetence; Mitral Valve Insufficiency; Mitral Valve Regurgitation; Mitral Valve Stenosis; Mitral Valve Incompetence

  8. Ascending Aortic Slide for Interrupted Aortic Arch Repair.

    PubMed

    Urencio, Miguel; Dodge-Khatami, Ali; Greenleaf, Chris E; Aru, Giorgio; Salazar, Jorge D

    2016-09-01

    For repair of interrupted aortic arch, unfavorable anatomy challenges a tension-free anastomosis. We describe a useful alternative surgical technique used in five neonates/infants, involving splitting the ascending aorta from the sinotubular junction to the arch origin, leftward and posterior "sliding" of the flap with anastomosis to the distal arch creating a native tissue bridge, and reconstruction with a patch. With wide interruption gaps between proximal and distal aortic portions, the ascending aortic slide is a safe and reproducible technique, providing a tension-free native tissue bridge with potential for growth, and a scaffold for patch augmentation in biventricular hearts, or for Norwood stage I in univentricular palliation. PMID:27587504

  9. Current aortic endografts for the treatment of abdominal aortic aneurysms.

    PubMed

    Colvard, Benjamin; Georg, Yannick; Chakfe, Nabil; Swanstrom, Lee

    2016-05-01

    Endovascular Aneurysm Repair is a widely adopted method of treatment for patients with abdominal aortic aneurysms. The minimally invasive approach offered with EVAR has become popular not only among physicians and patients, but in the medical device industry as well. Over the past 25 years the global market for aortic endografts has increased rapidly, resulting in a wide range of devices from various companies. Currently, there are seven endografts approved by the FDA for the treatment of abdominal aortic aneurysms. These devices offer a wide range of designs intended to increase inclusion criteria while decreasing technical complications such as endoleak and migration. Despite advances in device design, secondary interventions and follow-up requirements remain a significant issue. New devices are currently being studied in the U.S. and abroad and may significantly reduce complications and secondary interventions. PMID:26959727

  10. Surgical Repair of Retrograde Type A Aortic Dissection after Thoracic Endovascular Aortic Repair

    PubMed Central

    Kim, Chang-Young; Kim, Yeon Soo; Ryoo, Ji Yoon

    2014-01-01

    It is expected that the stent graft will become an alternative method for treating aortic diseases or reducing the extent of surgery; therefore, thoracic endovascular aortic repair has widened its indications. However, it can have rare but serious complications such as paraplegia and retrograde type A aortic dissection. Here, we report a surgical repair of retrograde type A aortic dissection that was performed after thoracic endovascular aortic repair. PMID:24570865

  11. Open aortic surgery after thoracic endovascular aortic repair.

    PubMed

    Coselli, Joseph S; Spiliotopoulos, Konstantinos; Preventza, Ourania; de la Cruz, Kim I; Amarasekara, Hiruni; Green, Susan Y

    2016-08-01

    In the last decade, thoracic endovascular aortic aneurysm repair (TEVAR) has emerged as an appealing alternative to the traditional open aortic aneurysm repair. This is largely due to generally improved early outcomes associated with TEVAR, including lower perioperative mortality and morbidity. However, it is relatively common for patients who undergo TEVAR to need a secondary intervention. In select circumstances, these secondary interventions are performed as an open procedure. Although it is difficult to assess the rate of open repairs after TEVAR, the rates in large series of TEVAR cases (>300) have ranged from 0.4 to 7.9 %. Major complications of TEVAR that typically necessitates open distal aortic repair (i.e., repair of the descending thoracic or thoracoabdominal aorta) include endoleak (especially type I), aortic fistula, endograft infection, device collapse or migration, and continued expansion of the aneurysm sac. Conversion to open repair of the distal aorta may be either elective (as for many endoleaks) or emergent (as for rupture, retrograde complicated dissection, malperfusion, and endograft infection). In addition, in select patients (e.g., those with a chronic aortic dissection), unrepaired sections of the aorta may progressively dilate, resulting in the need for multiple distal aortic repairs. Open repairs after TEVAR can be broadly classified as full extraction, partial extraction, or full salvage of the stent-graft. Although full and partial stent-graft extraction imply failure of TEVAR, such failure is generally absent in cases where the stent-graft can be fully salvaged. We review the literature regarding open repair after TEVAR and highlight operative strategies. PMID:27314956

  12. A planning system for transapical aortic valve implantation

    NASA Astrophysics Data System (ADS)

    Gessat, Michael; Merk, Denis R.; Falk, Volkmar; Walther, Thomas; Jacobs, Stefan; Nöttling, Alois; Burgert, Oliver

    2009-02-01

    Stenosis of the aortic valve is a common cardiac disease. It is usually corrected surgically by replacing the valve with a mechanical or biological prosthesis. Transapical aortic valve implantation is an experimental minimally invasive surgical technique that is applied to patients with high operative risk to avoid pulmonary arrest. A stented biological prosthesis is mounted on a catheter. Through small incisions in the fifth intercostal space and the apex of the heart, the catheter is positioned under flouroscopy in the aortic root. The stent is expanded and unfolds the valve which is thereby implanted into the aortic root. Exact targeting is crucial, since major complications can arise from a misplaced valve. Planning software for the perioperative use is presented that allows for selection of the best fitting implant and calculation of the safe target area for that implant. The software uses contrast enhanced perioperative DynaCT images acquired under rapid pacing. In a semiautomatic process, a surface segmentation of the aortic root is created. User selected anatomical landmarks are used to calculate the geometric constraints for the size and position of the implant. The software is integrated into a PACS network based on DICOM communication to query and receive the images and implants templates from a PACS server. The planning results can be exported to the same server and from there can be rertieved by an intraoperative catheter guidance device.

  13. Treatment of acute thoracic aortic syndromes using endovascular techniques

    PubMed Central

    Uğuz, Emrah; Canyiğit, Murat; Hıdıroğlu, Mete; Şener, Erol

    2016-01-01

    PURPOSE Acute thoracic aortic syndrome (ATAS) is a novel term to define emergency aortic conditions with common clinical features and challenges. Traditional management of ATAS includes surgical replacement of the aorta and is correlated with high perioperative mortality and morbidity. We aimed to evaluate our experience and outcomes in patients presenting with ATAS, managed by endovascular techniques. METHODS This cohort consisted of 31 consecutive patients (24 males; mean age, 57.5±13.81 years; range, 19–84 years) with acute thoracic aortic pathologies who underwent endovascular repair between January 2011 and January 2015. The study was designed as a retrospective analysis of prospectively maintained data. RESULTS Complicated acute type-B aortic dissection was the most common pathology (35.5%). All aortic stent-grafts (n=37) and dissection stents (n=9) were implanted with 100% procedural success. The overall in-hospital mortality was 9.7%. The mean follow-up duration of patients who were alive at 30 days was 25.9±11.49 months (3–53 months). So far, there have been no late deaths after 30 days. CONCLUSION In the high-risk setting of ATAS, endovascular procedures come forward as novel therapeutic strategies with promising results. Endovascular repair of ATAS can be considered as a first-line treatment alternative under emergency conditions with encouraging results, particularly when conventional surgical repair cannot be implemented due to prohibitive comorbidities. PMID:27113420

  14. Bartonella henselae aortic valve endocarditis mimicking systemic vasculitis

    PubMed Central

    Teoh, Laurence S G; Hart, Hamish H; Soh, May Ching; Christiansen, Jonathan P; Bhally, Hasan; Philips, Martin S; Rai-Chaudhuri, Dominic S

    2010-01-01

    A 28-year-old man with a bicuspid aortic valve presented with facial droop and slurred speech with several months of constitutional symptoms of night sweats, weight loss and productive cough. Examination confirmed aortic regurgitation, palpable spleen and left facial droop. Multiple peripheral blood cultures were negative. Inflammatory markers, cytoplasmic staining antineutrophil cytoplasmic antibodies (cANCA) and anti-PR3 antibody were all elevated. MRI of the brain and CT of the chest and abdomen confirmed embolic infarcts to brain, kidney and spleen. Transoesophageal echocardiogram (ECG) showed valve vegetations and severe aortic regurgitation. Endocardial Wegener's granulomatosis was considered. Aortic valve replacement was performed. Grindings from aortic valve leaflets were analysed for rpoB gene, which confirmed the presence of Bartonella henselae. Serological assays demonstrated B henselae IgM 20 (normal <20) and IgG >2048 (normal < 64). The patient completely recovered after prolonged antibiotic treatment. Culture-negative infective endocarditis may mimic vasculitis and be associated with positive cANCA. Serology and molecular techniques may aid diagnosis. PMID:22791485

  15. Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia

    SciTech Connect

    Pierce, G.F.; Brovall, C.; Schacter, B.Z.; Polmar, S.H.

    1983-06-01

    Recent studies of cartilage-hair hypoplasia (CHH), a form of short-limbed dwarfism, have shown that all affected individuals have a cellular proliferation defect that results in a cellular immunodeficiency. However, only a minority of CHH individuals suffer from severe, life-threatening infections. For this reason, relevant immune defense mechanisms that may be responsible for maintaining intact host defenses in the majority of CHH individuals were studied. Spontaneous and allogeneic culture-induced (mixed lymphocyte response-MLR) specific and nonspecific (NK-like) cytotoxic mechanisms were analyzed and correlated with lymphocyte subpopulations present in CHH and normal individuals. Spontaneous natural-killer (NK) activity was present at or above normal levels, but culture-induced specific cytotoxicity and NK-like cytotoxicity as well as NK-like activity by T cell lines were significantly reduced in CHH individuals. The generation of radiation-resistant cytotoxicity, which normally occurs during allogeneic MLR, was markedly diminished in CHH, and was correlated with the decreased proliferation observed in CHH cultures. Preservation of spontaneous NK activity and loss of all forms of culture-induced cytotoxicity was associated with an increase in the proportion of lymphocytes bearing a thymic independent NK phenotype, and a significant decrease in thymic derived cytolytic T cell sub-populations in CHH individuals. Therefore, an intact cellular cytotoxic effector mechanism has been identified in CHH (i.e., NK activity).

  16. Persistent Fifth Aortic Arch with Coarctation

    PubMed Central

    Kim, Sue Hyun; Choi, Eun-Suk; Cho, Sungkyu; Kim, Woong-Han

    2016-01-01

    Persistent fifth aortic arch (PFAA) is a rare congenital anomaly of the aortic arch frequently associated with other cardiovascular anomalies, such as tetralogy of Fallot and aortic arch coarctation or interruption. We report the case of a neonate with PFAA with coarctation who successfully underwent surgical repair. PMID:26889445

  17. [Aplasia and hypoplasia of the side of the nose in the Mocha Period and today].

    PubMed

    Pirsig, W

    1989-01-01

    In earthenware vessels from the Moche period (200-700 A.D.) pathological findings of nasal deformities have been depicted in a realistic manner. By means of two recent casuistics and of two portrait vessels of Old Peru it is demonstrated how exactly the nasal pathology was observed by the artists of the Moche period. The first example shows a unilateral hypoplasia of the nasal ala due to injury in early childhood, the second example shows a bilateral aplasia of the nasal alae due to an intrauterine growth disturbance. PMID:2690796

  18. Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

    PubMed Central

    Braegger, C; Bottani, A; Hallé, F; Giedion, A; Leumann, E; Seger, R; Willi, U; Schinzel, A

    1991-01-01

    We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin. Images PMID:1999836

  19. Aortic regurgitation caused by rupture of the abnormal fibrous band between the aortic valve and aortic wall.

    PubMed

    Minami, Hiroya; Asada, Tatsuro; Gan, Kunio; Yamada, Akitoshi; Sato, Masanobu

    2011-07-01

    This report documents the sudden onset of aortic regurgitation (AR) by an exceptional cause. A 68-year-old woman suddenly experienced general fatigue, and AR was diagnosed. One year later, we performed aortic valve replacement. At surgery, three aortic cusps with a larger noncoronary cusp had prolapsed along with a free-floating fibrous band that had previously anchored the cusp to the aortic wall. Its rupture had induced the sudden onset of AR. There was no sign of infectious endocarditis. We performed successful aortic valve replacement. PMID:21751110

  20. [MINIMALLY INVASIVE AORTIC VALVE REPLACEMENT].

    PubMed

    Tabata, Minoru

    2016-03-01

    Minimally invasive aortic valve replacement (MIAVR) is defined as aortic valve replacement avoiding full sternotomy. Common approaches include a partial sternotomy right thoracotomy, and a parasternal approach. MIAVR has been shown to have advantages over conventional AVR such as shorter length of stay and smaller amount of blood transfusion and better cosmesis. However, it is also known to have disadvantages such as longer cardiopulmonary bypass and aortic cross-clamp times and potential complications related to peripheral cannulation. Appropriate patient selection is very important. Since the procedure is more complex than conventional AVR, more intensive teamwork in the operating room is essential. Additionally, a team approach during postoperative management is critical to maximize the benefits of MIAVR. PMID:27295772

  1. The everyday used nomenclature of the aortic root components: the tower of Babel?

    PubMed

    Sievers, Hans-Hinrich; Hemmer, Wolfgang; Beyersdorf, Friedhelm; Moritz, Anton; Moosdorf, Rainer; Lichtenberg, Artur; Misfeld, Martin; Charitos, Efstratios I

    2012-03-01

    Modern analyses of data for scientific reporting and healthcare management purposes require standardized and consistent definitions, something which also holds true for aortic root surgery, as part of the cardiovascular surgery spectrum. The aim of the present study was to investigate the currently employed nomenclature of the aortic root components. A questionnaire was constructed on the terminology of aortic root components, providing a list of common definitions including anatomical descriptions, as well as fields for custom responses. Responses were received from 534 cardiothoracic surgeons registered at www.ctsnet.org. Remarkable variations in definitions were detected. The most unanimously accepted terms were: 'aortic leaflets', the freely moving parts (52.6% of responses); 'commissures', the distal part of the leaflet attachments plus the peripheral area of the free edges of the leaflets (52.2%); 'semi-lunar leaflet attachment', the anatomic site of leaflet attachment (58%); 'annulus', the circular line defined by the nadirs of the leaflets (38%); 'interleaflet triangle', the tissue between two leaflets and annulus (23%); 'aortic valve', the three leaflets only (55%); 'aortic root' as composed of sinuses, tissue between the leaflets, sinutubular junction, leaflets and their wall attachment (63%). The remarkable variability on the everyday-used definitions of the aortic root components can potentially lead to misinterpretation of data. More stringent adoption of consistent, standardized definitions of aortic root components is necessary in the modern era of data collection and management. PMID:22345173

  2. Aortic arch repair today: open repair is best for most arch lesions.

    PubMed

    Coselli, J S; Green, S Y

    2015-08-01

    The transverse aortic arch is challenging to repair by either evolving open or emerging endovascular approaches. Contemporary experience in aortic arch repair can be difficult to assess because clinical practice varies substantially among centers with regard to temperature targets for hypothermic circulatory arrest, temperature monitoring sites, circulating perfusate temperatures, cerebral perfusion monitoring techniques, perfusion catheter flow rates, cannulation sites, pH management, and protective pharmacologic agents. Repair of the aortic arch has changed substantially over the last decade; these changes appear to have substantially reduced patient risk. In general, contemporary outcomes of open aortic arch repair are good to excellent. When acute aortic dissection is absent, many centers report early mortality rates below 5%; when acute aortic dissection is present, these rates are doubled or tripled. Not unexpectedly, mortality rates for total transverse aortic arch repair with elephant trunk or frozen elephant trunk approaches are greater than those for hemiarch repair (7-17% vs. 3-4%). In contemporary reports of mixed hemiarch and total arch repairs for aortic aneurysm, several authors report early mortality rates and stroke rates below 5%. Surprisingly, mortality rates for reoperation are not unlike those for primary repair and range from 8% to 9%; however, the risk of stroke appears somewhat greater and ranges from 5% to 6%. PMID:25752255

  3. Left Main Coronary Artery Obstruction by Dislodged Native-Valve Calculus after Transcatheter Aortic Valve Replacement

    PubMed Central

    Durmaz, Tahir; Keles, Telat; Aslan, Abdullah Nabi; Erdogan, Kemal Esref; Sari, Cenk; Bilen, Emine; Akcay, Murat; Bozkurt, Engin

    2014-01-01

    Transcatheter aortic valve replacement can be an effective, reliable treatment for severe aortic stenosis in surgically high-risk or ineligible patients. However, various sequelae like coronary artery obstruction can occur, not only in the long term, but also immediately after the procedure. We present the case of a 78-year-old woman whose left main coronary artery became obstructed with calculus 2 hours after the transfemoral implantation of an Edwards Sapien XT aortic valve. Despite percutaneous coronary intervention in that artery, the patient died. This case reminds us that early recognition of acute coronary obstruction and prompt intervention are crucial in patients with aortic stenosis who have undergone transcatheter aortic valve replacement. PMID:25120396

  4. Complex Reoperation for Late Complications After Acute Type A Aortic Dissection Surgery

    PubMed Central

    Stöger, Guillermo; Ríos, Matías; Battellini, Roberto; Bracco, Daniel; Kotowicz, Vadim

    2015-01-01

    The correct management of acute Type A dissection continues to be a challenge. The primary goal is to save the patient´s life. However, the decision regarding the surgical approach determines possible later complications. We present the case of a 59-year-old female patient with a past history of emergent surgery for acute Type A dissection treated by supracoronary ascending and aortic valve replacement 19 years previously. Later, in a second endovascular approach, the descending aorta was treated by a thoracic endoprosthesis. During follow-up a dilated aortic root and a Type I endoleak were observed, and complex reoperation was required. We performed a total aortic arch replacement with a 4-branched graft and a complete aortic root replacement using the Cabrol technique for the reinsertion of the coronary arteries. The mechanical aortic normally functioning valve was preserved. The patient was discharged 30 days postoperatively. PMID:27390749

  5. Multiple endovascular aortic aneurysm repair graft failures and re-interventions over 15 years

    PubMed Central

    Belchos, Jessica; Wheatcroft, Mark; Moloney, Tony

    2015-01-01

    Re-intervention on abdominal aortic aneurysm treated by endovascular aortic aneurysm repair for complications such as endoleak, graft migration, and graft failure is relatively common. However, re-do endovascular aortic aneurysm repair can be complex, as the failed graft still resides within the vessel. In addition, some re-do endovascular aortic aneurysm repairs call for an advanced custom graft, which can further increase the complexity and technical skill required. We describe a case of a 15-year-old endovascular aortic aneurysm repair originally implanted in a 71-year-old man, followed by three separate complications requiring intervention. We describe important procedural decisions taken into consideration when presented with failure of an older graft. PMID:27489701

  6. Reversed L-type Upper Partial Sternotomy in Aortic Valve Replacement: an Initial Experience

    PubMed Central

    Karic, Alen

    2016-01-01

    Introduction: Degenerative aortic stenosis (AS) is the most frequent cause among aortic valve stenotic changes. Mini Sternotomy Aortic Valve Replacement is a replacement of aortic valve through upper partial sternotomy. Aim: The aim of this approach is to improve postoperative convalescence by leaving pleural spaces closed and do not compromise respiratory function, to decrease bleeding, and reduce post op ventilation time and ICU stay. All these advantages decrease cost during hospital stay by reducing ICU stay, respiration time, bleeding and using blood products, pain killers and shortening hospital stay. Esthetic effect is also considerable result of this method. Case report: This case report presents an initial experience with Reversed L-Type Upper Partial Sternotomy in Aortic Valve Replacement. The goal is to demonstrate that minimally invasive advanced cardiac surgery procedures can be performed in our country. PMID:27594754

  7. Long-term survival following emergency abdominal aortic aneurysm repair.

    PubMed

    Milner, Q J; Burchett, K R

    2000-05-01

    Survival following emergency surgery for ruptured abdominal aortic aneurysm remains poor and is in stark contrast to that for elective repair. We have carried out a 5-year retrospective observational study to determine the long-term (5-year) survival of patients following emergency surgery for ruptured abdominal aortic aneurysm at a district general hospital in East Anglia. A total of 99 patients presented to the operating theatre for emergency repair of ruptured abdominal aortic aneurysm in this 5-year study period. In-hospital mortality was 70% and was unchanged over the 5 years. Overall long-term survival in those patients discharged from hospital was good. The ICU cost per long-term survivor was calculated to be pound sterling 36750. PMID:10792133

  8. Two-Stage Procedure for Infected Aortic Graft Pseudoaneurysm

    PubMed Central

    von Aspern, Konstantin; Etz, Christian D.; Mohr, Friedrich W.; Battellini, Roberto R.

    2015-01-01

    Prosthetic graft infections with mediastinitis following aortic surgery are rare, yet represent grave complications yielding high morbidity and mortality. We present the case of a 57-year-old female patient with past history of emergent surgery for iatrogenic Type A dissection treated by supracoronary ascending aortic replacement. Four months after the initial surgery, a sternal fistula had formed and due to severe bleeding emergent reoperation was required. Imaging and pathology on admission revealed an infected pseudoaneurysm at the distal aortic prosthesis and mediastinitis with methicillin-resistant Staphylococcus aureus. Rescue surgery was performed by means of a two-stage approach, with extensive debridement, graft replacement and continuous antiseptic lavage in a first step and an omental wrapping of the new prosthesis in a second stage 24 hours later. During 10 years of follow-up, no recurrent infection occurred. The operative approach and general considerations for management of infected pseudoaneurysms are discussed. PMID:27069945

  9. Delayed Chylous Pericardial Effusion after Aortic Valve Replacement

    PubMed Central

    Mundra, Vishal; Savage, Edward B.; Novaro, Gian M.; Asher, Craig R.

    2011-01-01

    Chylopericardium after cardiac surgery is rare, and there are few reports of its occurrence after aortic valve surgery. Chylous pericardial effusion 4 months after aortic valve replacement for endocarditis is highly unusual. Herein, we report the case of a 54-year-old man who had undergone bioprosthetic aortic valve replacement because of endocarditis and valvular dysfunction. Two months later, he underwent pericardiocentesis twice because of large pericardial effusions consisting of pinkish white fluid with predominant lymphocytes. Four months after valve replacement, he presented with recurrent effusion consistent with early tamponade, and a pericardial window was created. At surgery, 1,500 cc of milky white fluid was recovered, and the diagnosis of chylopericardium was made. Postoperative high-volume drainage prompted thoracic duct ligation, which was curative. PMID:21841877

  10. Transcatheter Aortic Valve Replacement: a Kidney’s Perspective

    PubMed Central

    Cheungpasitporn, Wisit; Thongprayoon, Charat; Kashani, Kianoush

    2016-01-01

    Transcatheter aortic valve replacement (TAVR) has now emerged as a viable treatment option for high-risk patients with severe aortic stenosis (AS) who are not suitable candidates for surgical aortic valve replacement (SAVR). Despite encouraging published outcomes, acute kidney injury (AKI) is common and lowers the survival of patients after TAVR. The pathogenesis of AKI after TAVR is multifactorial including TAVR specific factors such as the use of contrast agents, hypotension during rapid pacing, and embolization; preventive measures may include pre-procedural hydration, limitation of contrast dye exposure, and avoidance of intraprocedural hypotension. In recent years, the number of TAVR performed worldwide has been increasing, as well as published data on renal perspectives of TAVR including AKI, chronic kidney disease, end-stage kidney disease, and kidney transplantation. This review aims to present the current literature on the nephrology aspects of TAVR, ultimately to improve the patients’ quality of care and outcomes. PMID:27069960

  11. Shape-based diagnosis of the aortic valve

    NASA Astrophysics Data System (ADS)

    Ionasec, Razvan Ioan; Tsymbal, Alexey; Vitanovski, Dime; Georgescu, Bogdan; Zhou, S. Kevin; Navab, Nassir; Comaniciu, Dorin

    2009-02-01

    Disorders of the aortic valve represent a common cardiovascular disease and an important public-health problem worldwide. Pathological valves are currently determined from 2D images through elaborate qualitative evalu- ations and complex measurements, potentially inaccurate and tedious to acquire. This paper presents a novel diagnostic method, which identies diseased valves based on 3D geometrical models constructed from volumetric data. A parametric model, which includes relevant anatomic landmarks as well as the aortic root and lea ets, represents the morphology of the aortic valve. Recently developed robust segmentation methods are applied to estimate the patient specic model parameters from end-diastolic cardiac CT volumes. A discriminative distance function, learned from equivalence constraints in the product space of shape coordinates, determines the corresponding pathology class based on the shape information encoded by the model. Experiments on a heterogeneous set of 63 patients aected by various diseases demonstrated the performance of our method with 94% correctly classied valves.

  12. Transcatheter aortic valve implantation: from fantasy to reality

    PubMed Central

    2014-01-01

    Increased life expectancy has led to the presentation of more complicated patients in old age for the replacement of the aortic valve. The emergence of Transcatheter Aortic Valve Implantation (TAVI) was considered as a significant breakthrough in the management of symptomatic, moribund patients suffering from aortic valve stenosis who had been rejected for surgical intervention. A novel technology often has a long journey from the point at which it is created to its every-day-use. It is now obvious that TAVI practice in multiple institutes around the world has gone beyond the evidence. Serious concerns have been raised questioning the current TAVI practice. Analysis of future TAVI use may assist clinicians and healthcare managers to understand and deploy this technology in accordance with the evidence. PMID:24602509

  13. Hybrid intervention for type A aortic arch interruption and a giant subclavian artery aneurysm in an adult.

    PubMed

    Oz, Kursad; Erek, Ersin; Yildirim, Aydin

    2016-06-01

    Interrupted aortic arch is a very rare but well-described congenital anomaly. Concomitant presentation of interrupted aortic arch and giant subclavian artery aneurysm is an unusual event in adulthood. To the best of our knowledge, hybrid intervention for type A aortic arch interruption with a giant aneurysm of the subclavian artery is an alternative approach for the management of these concomitant pathologies in adults. PMID:27071339

  14. [Atrial tachycardia ablated from the non-coronary aortic cusp].

    PubMed

    Baszko, Artur; Krzyzanowski, Krzysztof; Zinka, Elzbieta; Grajek, Stefan

    2007-02-01

    We present a case of a patient with drug resistant atrial tachycardia which was ablated from the noncoronary aortic cusp. Tachycardia was adenosine-sensitive and was characterized by a long RP' interval and low amplitude P waves (biphasic in II, III, aVF and V1-V2 leads, and positive in aVL). The earliest atrial activation during tachycardia was recorded at His region and from non-coronary aortic sinus of Valsalva. RF ablation at this area terminated tachycardia and did not impair atrio-ventricular conduction. PMID:17366369

  15. Intracardiac echocardiography to diagnose pannus formation after aortic valve replacement.

    PubMed

    Yamamoto, Yoshiya; Ohara, Takahiro; Funada, Akira; Takahama, Hiroyuki; Amaki, Makoto; Hasegawa, Takuya; Sugano, Yasuo; Kanzaki, Hideaki; Anzai, Toshihisa

    2016-03-01

    A 66-year-old female, under regular follow-up for 20 years after aortic valve replacement (19-mm Carbomedics), presented dyspnea on effort and hypotension during hemodialysis. A transthoracic echocardiogram showed elevation of transvalvular velocity up to 4 m/s, but the structure around the aortic prosthesis was difficult to observe due to artifacts. Fluoroscopy revealed normal motion of the leaflets of the mechanical valve. Intracardiac echocardiography (ICE) revealed a pannus-like structure in the left ventricular outflow tract. Transesophageal echocardiogram also revealed this structure. ICE can visualize structural abnormalities around a prosthetic valve after cardiac surgery even in patients in whom conventional imaging modalities failed. PMID:26732266

  16. Surgical Management of Necrotizing Mediastinitis With Large Aortic Pseudoaneurysm.

    PubMed

    Chevalier, Andrew T; Khaja, Minhaj S; Yang, Bo

    2016-05-01

    We report a patient with necrotizing mediastinitis complicated by a giant retrosternal mycotic pseudoaneurysm and prosthetic valve endocarditis successfully managed with a redo sternotomy under hypothermic circulatory arrest. The approach then included extensive débridement of the mediastinum, replacement of the ascending aorta and aortic arch with selective antegrade cerebral perfusion, redo aortic valve replacement, and wound closure with omental flap and myocutaneous flap. After a 2-year survival, the patient suffered reinfection from hemodialysis. Our approach is also applicable to more common presentations of mediastinitis. PMID:27106461

  17. BIOMECHANICS OF ABDOMINAL AORTIC ANEURYSM

    PubMed Central

    Vorp, David A.

    2009-01-01

    Abdominal aortic aneurysm (AAA) is a condition whereby the terminal aorta permanently dilates to dangerous proportions, risking rupture. The biomechanics of AAA has been studied with great interest since aneurysm rupture is a mechanical failure of the degenerated aortic wall and is a significant cause of death in developed countries. In this review article, the importance of considering the biomechanics of AAA is discussed, and then the history and the state-of-the-art of this field is reviewed - including investigations into the biomechanical behavior of AAA tissues, modeling AAA wall stress and factors which influence it, and the potential clinical utility of these estimates in predicting AAA rupture. PMID:17254589

  18. Severe hypoplasia of the omasal laminae in a Japanese Black steer with chronic bloat--a case report.

    PubMed

    Takagi, Mitsuhiro; Mukai, Shuhei; Fushimi, Yasuo; Matsushita, Kouhei; Miyoshi, Nobuaki; Yasuda, Nobuhiro; Kitajima, Hideo; Takamure, Senro; Matsushita, Toshihiko; Kitamura, Nobuo; Deguchi, Eisaburo

    2007-12-01

    An 11-month-old Japanese Black steer with chronic bloat underwent clinical and histological analyses. During the observation period, it showed normal appetite and fecal volume but persistent chronic bloat symptoms. Compared to controls, the steer's feces contained undigested large straws. Necropsy revealed normal rumen, reticulum, and abomasum but a small omasum. The rumen, reticulum, and abomasum mucosa was normal, with well-developed ruminal papillae. However, severe hypoplasia of the omasal laminae was observed along with hypoplasia reticular groove and ruminoreticular fold. The contents of the reticulum, omasum, and abomasums comprised undigested large sized hay particles. The omasum papillae showed no pathological abnormalities. This is a rare case of a steer with chronic bloat probably caused by severe hypoplasia of the omasal laminae. PMID:18176026

  19. Percutaneous Implantation of the self-expanding valve Prosthesis a patient with homozygous familial hypercholesterolemia severe aortic stenosis and porcelain aorta.

    PubMed

    Sahiner, Levent; Asil, Serkan; Kaya, Ergün Baris; Ozer, Necla; Aytemir, Kudret

    2016-10-01

    Transcatheter aortic valve implantation (TAVI) has shown favorable outcomes in patients with severe symptomatic aortic valve stenosis who are at high surgical risk or inappropriate for open heart surgery. However, concerns exist over treating patients who have porcelain aorta and familial hypercholesterolemia, due to the potential complications of aortic root and aortic annulus. In this case report, we present a patient with familial hypercholesterolemia, symptomatic severe aortic stenosis, previous coronary artery bypass grafting and porcelain aorta, who was successfully treated with TAVI using a CoreValve. PMID:27393846

  20. Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia

    PubMed Central

    Gergics, Peter; Brinkmeier, Michelle L.

    2015-01-01

    Defects in the Lhx4, Lhx3, and Pitx2 genes can cause combined pituitary hormone deficiency and pituitary hypoplasia in both humans and mice. Not much is known about the mechanism underlying hypoplasia in these mutants beyond generally increased cell death and poorly maintained proliferation. We identified both common and unique abnormalities in developmental regulation of key cell cycle regulator gene expression in each of these three mutants. All three mutants exhibit reduced expression of the proliferative marker Ki67 and the transitional marker p57. We discovered that expression of the cyclin-dependent kinase inhibitor 1a (Cdkn1a or p21) is expanded dorsally in the pituitary primordium of both Lhx3 and Lhx4 mutants. Uniquely, Lhx4 mutants exhibit reduced cyclin D1 expression and have auxiliary pouch-like structures. We show evidence for indirect and direct effects of LHX4 on p21 expression in αT3-1 pituitary cells. In summary, Lhx4 is necessary for efficient pituitary progenitor cell proliferation and restriction of p21 expression. PMID:25668206

  1. De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

    SciTech Connect

    Chen, H.; Kusyk, C.J.; Tuck-Muller, C.M.

    1995-02-13

    We report on a black male child with congenital hypoplasia of the adrenal gland (CHA) with a de novo duplication of 5p (dir dup(5) (p13.3{r_arrow}p15.1)), confirmed by fluorescence in situ hybridization (FISH). In addition to a characteristic clinical course, the patient has hyperpigmentation (melanoderma) since birth, normal external genitalia, marked elevation of ACTH, and absent response to an IV ACTH challenge. To the best of our knowledge, this is the first case of congenital hypoplasia of the adrenal gland associated with a chromosome abnormality. Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3-pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11-p13.2 apparently causes far more deleterious changes. The concurrence of CHA and dup(5p) in our patient may indicate the possible gene localization of an autosomal form of CHA to either at or near 5p13.3 or 5p15.1. 25 refs., 3 figs.

  2. Portal hypertension associated with primary hypoplasia of the hepatic portal vein in dogs.

    PubMed

    Van den Ingh, T S; Rothuizen, J; Meyer, H P

    1995-10-21

    Portal hypertension caused by primary hypoplasia of the portal vein was diagnosed in 42 dogs. The portal hypertension was manifested by the presence of multiple portosystemic collateral vessels. The main clinical signs were retarded growth or weight loss, apathy, intermittent diarrhoea and vomiting, anorexia, abdominal distension and polydipsia. Major findings at physical examination were ascites in 23 dogs and neurological signs in 16 dogs. The dogs had increased activities of liver enzymes in plasma and increased fasting levels of total bile acids and ammonia; in many of the dogs the packed red cell volume, total serum protein and albumin were low. Gross inspection of the portal vein revealed a patent but underdeveloped extrahepatic vein in 13 of the dogs. Microscopic examination of the liver revealed hypoplasia of the intrahepatic portal veins in all the dogs, and this was associated with minor arteriolar proliferation and absence of fibrosis in 12 of them, with moderate to marked arteriolar proliferation often combined with ductular proliferation in 13, and with marked portal fibrosis (formerly described as hepatoportal fibrosis) with a varying number of arteriolar and bile ductular structures in 17 of the dogs. The disease affected mainly young dogs, and was most likely to have been of congenital origin. PMID:8560700

  3. Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia

    PubMed Central

    Abbasian, Javaneh; Blair, Norman; Shahidi, Mahnaz; Ying, Gui-Shuaung; Huang, Jiayan; Kaufman, Lawrence; Blair, Michael

    2016-01-01

    PURPOSE To characterize the extent and location of macular thinning in patients with unilateral optic nerve hypoplasia (ONH) as compared to the contralateral normal eye. METHODS The medical records of patients with unilateral ONH who underwent spectral domain optical coherence tomography (SD-OCT) of the macula were retrospectively reviewed. SD-OCT scans were manually segmented by 3 observers in 3 macular regions (superior, central, inferior). Boundaries identified included the inner limiting membrane, the junction between the inner nuclear layer and outer plexiform layer, and the neural retina–retinal pigment epithelium interface. Using custom MATLAB software, inner and outer retinal thickness profiles were quantified. A paired t test was used to compare the retinal thickness between the ONH eye and the contralateral normal eyes. RESULTS Inner retinal thickness of the ONH eye was decreased in all areas of the macula (superior, central, and inferior) compared to the contralateral normal eye (P < 0.05). Outer retinal thicknesses were also decreased in the central and inferior sections compared with the normal eye (P < 0.05). CONCLUSIONS Optic nerve hypoplasia is a congenital disease known to result in thinning of the nerve fiber and ganglion cell layer. Our small cohort demonstrated thinning of the inner retinal layers as well as the outer retinal layers in the ONH eye compared with the contralateral normal eye. PMID:25727589

  4. Application of ferrokinetic investigation for differential diagnosis in bone marrow hypoplasia and their clinical relevance.

    PubMed

    Gupta, M; Roth, P; Werner, E; Kaltwasser, J P

    1979-02-01

    In this study, erythropoietic activity of bone marrow has been evaluated by ferrokinetics. For that purpose, the data of radioiron disappearance from plasma and its ultimate incorporation in red blood cells after the injection of about 10 muCi of 59Fe tagged autologous plasma, were analysed and fitted to the sum of three exponentials, using a non-linear least square SAAM-25 program on UNIVAC-1108 computer. A function representing time-activity relationship, was constructed. The functional physiological model of iron metabolism, proposed by Cavill and Ricketts, was used to calculate various ferrokinetic parameters in terms of coefficients and exponents of the time-activity function. After identifying the parameters that could be used as indices of erythropoietic activity of bone marrow, the study was repeated in six patients after they had undergone myelostimulative therapy. A distinct correlation was found between ferrokinetic observations and clinical and biochemical findings. It has been demonstrated that in histologically diagnosed cases with bone marrow hypoplasia, a further differentiation between pure aplasia and those with hypoplasia together with ineffective erythropoiesis was possible. This discrimination which is clinically very important, is only possible by means of kinetic investigations. PMID:499222

  5. Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection.

    PubMed

    Ghatak, Tanmoy; Samanta, Sukhen; Samanta, Sujoy

    2013-10-01

    Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation. We describe the anesthetic management of a patient with Marfan syndrome with severe aortic root dilation, who required major surgery like cholecystectomy with partial liver resection under general anesthesia. A 47-year-old female presented to pre-anesthetic clinic for cholecystectomy with partial hepatic resection for gall bladder carcinoma. Clinical features, transthoracic echocardiography and computed tomography of thorax supported a diagnosis of Marfan syndrome with severely dilated aortic root. Aortic dissection in patients with Marfan syndrome and severely dilated aortic root can be precipitated by major hemodynamic changes under anesthesia. Careful hemodynamic monitoring and avoidance of hemodynamic swings can prevent this life-threatening event. PMID:24348301

  6. Transfemoral Valve-in-Valve Transcatheter Aortic Valve Implantation (TAVI) in a Patient With Previous Endovascular Aortic Repair (EVAR).

    PubMed

    Ruparelia, Neil; Panoulas, Vasileios F; Frame, Angela; Nathan, Anthony W; Ariff, Ben; Jaffer, Usman; Sutaria, Nilesh; Chukwuemeka, Andrew; Mikhail, Ghada W; Malik, Iqbal S

    2016-07-01

    A 90-year-old man presented with increasing exertional breathlessness. He had previous implantation of a Perimount bioprosthetic aortic valve (Edwards Lifesciences) and coronary artery bypass graft surgery. Due to severe transvalvular bioprosthetic regurgitation with preserved left ventricular dimensions and ejection fraction, the heart team decided on valve-in- valve transcatheter aortic valve implantation via the transfemoral route in view of the patient's prohibitively high surgical and anesthetic risk. The patient had an uncomplicated recovery and was symptomatically much improved at 3-month follow-up. PMID:27342209

  7. Restoration of incisal half with edge-up technique using ceramic partial crown in turner's hypoplasia: A case report.

    PubMed

    Hegde, Shreya; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869

  8. A Combined Proteomic and Transcriptomic Approach Shows Diverging Molecular Mechanisms in Thoracic Aortic Aneurysm Development in Patients with Tricuspid- And Bicuspid Aortic Valve*

    PubMed Central

    Kjellqvist, Sanela; Maleki, Shohreh; Olsson, Therese; Chwastyniak, Maggy; Branca, Rui Miguel Mamede; Lehtiö, Janne; Pinet, Florence; Franco-Cereceda, Anders; Eriksson, Per

    2013-01-01

    Thoracic aortic aneurysm is a pathological local dilatation of the aorta, potentially leading to aortic rupture or dissection. The disease is a common complication of patients with bicuspid aortic valve, a congenital disorder present in 1–2% of the population. Using two dimensional fluorescence difference gel electrophoresis proteomics followed by mRNA expression, and alternative splicing analysis of the identified proteins, differences in dilated and nondilated aorta tissues between 44 patients with bicuspid and tricuspid valves was examined. The pattern of protein expression was successfully validated with LC-MS/MS. A multivariate analysis of protein expression data revealed diverging protein expression fingerprints in patients with tricuspid compared with the patients with bicuspid aortic valves. From 302 protein spots included in the analysis, 69 and 38 spots were differentially expressed between dilated and nondilated aorta specifically in patients with tricuspid and bicuspid aortic valve, respectively. 92 protein spots were differentially expressed between dilated and nondilated aorta in both phenotypes. Similarly, mRNA expression together with alternative splicing analysis of the identified proteins also showed diverging fingerprints in the two patient groups. Differential splicing was abundant but the expression levels of differentially spliced mRNA transcripts were low compared with the wild type transcript and there was no correlation between splicing and the number of spots. Therefore, the different spots are likely to represent post-translational modifications. The identification of differentially expressed proteins suggests that dilatation in patients with a tricuspid aortic valve involves inflammatory processes whereas aortic aneurysm in patients with BAV may be the consequence of impaired repair capacity. The results imply that aortic aneurysm formation in patients with bicuspid and tricuspid aortic valves involve different biological pathways

  9. [Aortic inflammatory lesions in Behçet's disease].

    PubMed

    Desbois, A-C; Wechsler, B; Cacoub, P; Saadoun, D

    2016-04-01

    The arterial lesions affect about 10% of patients with Behçet's disease (BD). Aortic inflammatory involvement includes predominantly aortic aneurysmal lesions affecting most often the abdominal aorta. They account for the severity of the disease and are a leading cause of death when they hit the aorta or pulmonary arteries. Within the arterial lesions of BD, aortic involvement is, with femoral lesions, the most common site involved (18-28% of patients with vascular disease). Unlike other large vessels vasculitis (i.e. giant cell arteritis and Takayasu's arteritis) diffuse aortitis is observed in less than 5% of patients with BD. Aortic lesions of BD may be asymptomatic (systematic imaging or occasionally associated with other vascular event) or be revealed by the occurrence of abdominal, thoracic or lumbar pain, or an aortic valve insufficiency. Fever is frequently associated. Increase in acute phase reactants is common in these patients. Histological analysis may show infiltration by lymphocytes, neutrophils and plasma cells in the media and adventitia and a proliferation of the vasa vasorum in the media as well as a fibroblastic proliferation. In the later phase, a fibrous thickening of the media and adventitia is observed as well as a proliferation and thickening of the vasa vasorum. The therapeutic management should always include a medical treatment for the control of inflammation (corticosteroids, immunosuppressive drugs and/or biotherapy) and often an endovascular or surgical treatment if the aneurysm is threatening. The choice between endovascular or surgical treatment is considered case by case, depending on the experience of the team, anatomical conditions and of the clinical presentation. In this review, we provide a detailed and updated review of the literature to describe the aortic inflammatory damage associated with Behçet's disease. PMID:26611428

  10. Renal embolism as a primary manifestation of Streptococcus dysgalactiae subspecies equisimilis endocarditis in a patient with chronic aortic dissection.

    PubMed

    Ishimaru, Naoto; Kinami, Saori; Ohnishi, Hisashi; Takagi, Asuka; Kawamoto, Megumi; Doukuni, Ryota; Umezawa, Kanoko; Oozone, Sachiko; Yoshimura, Sho; Sakamoto, Susumu

    2015-06-01

    We report a case of renal embolism as an initial manifestation of Streptococcus dysgalactiae subspecies equisimilis (SDSE) endocarditis in a patient with chronic aortic dissection. A 37-year-old man who underwent total aortic arch replacement owing to aortic dissection, presented with a 3-h history of fever, chills, and acute right-sided flank pain. The endocarditis affected the native aortic valve and was complicated by a renal embolism. Blood culture results were positive for SDSE. Intravenous penicillin resulted in satisfactory clinical and echocardiographic recovery. PMID:26110298

  11. Multiple 18F-Fluorodeoxyglucose Positron Emission Tomography Scans Showing Progression of Abdominal Aortic Aneurysm: A Case Report.

    PubMed

    Tsuruda, Toshihiro; Nagamachi, Shigeki; Nishimura, Masanori; Nakamura, Kunihide; Kitamura, Kazuo

    2016-05-01

    Although the precise mechanisms underlying the pathogenesis of abdominal aortic aneurysm (AAA) remain unclear, aortic wall inflammation has been implicated in AAA development. Several studies have reported the use of fluoro-deoxyglucose (F-FDG)/positron emission tomography (PET) to assess the nature of AAA.We present a case of 77-year-old Japanese male with juxta-anastomotic AAA who was followed up with multiple F-FDG-PET/CT scans over 7 years. The scans revealed chronological changes in aortic wall inflammation leading to progress and eventual rupture.This case supports a notion that aortic wall inflammation plays a role in AAA progression and rupture. PMID:27175690

  12. Complete regression of a symptomatic, mycotic juxtarenal abdominal aortic aneurysm after treatment with fenestrated endovascular aneurysm repair.

    PubMed

    Durgin, Jonathan M; Arous, Edward J; Kumar, Shivani; Robinson, William P; Simons, Jessica P; Schanzer, Andres

    2016-09-01

    Mycotic abdominal aortic aneurysms are rare and present unique challenges when potential treatment options are considered. Although aortic resection with in situ grafting techniques or extra-anatomic reconstruction are the treatments of choice, endovascular aortic repair has emerged as a suitable alternative in critically ill patients. We report the successful endovascular repair of a symptomatic, mycotic juxtarenal aortic aneurysm using a physician-modified fenestrated endograft. In this patient, with >6 months of follow-up, the aneurysm has completely regressed, illustrating that in select patients with complex mycotic aneurysms, endovascular repair combined with appropriate medical management is a viable treatment strategy. PMID:26747681

  13. Case report of Streptomyces endocarditis of a prosthetic aortic valve.

    PubMed Central

    Mossad, S B; Tomford, J W; Stewart, R; Ratliff, N B; Hall, G S

    1995-01-01

    We describe the first case of prosthetic valve endocarditis due to a Streptomyces sp. The patient presented with fever, cutaneous embolic lesions, and bacteremia 3 months after aortic valve replacement. Treatment required valve replacement and a long course of parenteral imipenem. PMID:8586732

  14. Aortic coarctation, aneurysm, and ventricular dysfunction in an asymptomatic infant.

    PubMed

    García, Ana I; Aguilar, Juan M; García, Enrique

    2016-06-01

    Aortic arch coarctation with post-coarctation aneurysm is rare in infants. We present the case of an asymptomatic 3-month-old infant with severe left ventricular dysfunction in this setting. The patient underwent surgical repair, and the left ventricular ejection fraction improved to recovery the 4th post-operative month. PMID:26980403

  15. Transcatheter, valve-in-valve transapical aortic and mitral valve implantation, in a high risk patient with aortic and mitral prosthetic valve stenoses

    PubMed Central

    Ramakrishna, Harish; DeValeria, Patrick A.; Sweeney, John P.; Mookaram, Farouk

    2015-01-01

    Transcatheter valve implantation continues to grow worldwide and has been used principally for the nonsurgical management of native aortic valvular disease-as a potentially less invasive method of valve replacement in high-risk and inoperable patients with severe aortic valve stenosis. Given the burden of valvular heart disease in the general population and the increasing numbers of patients who have had previous valve operations, we are now seeing a growing number of high-risk patients presenting with prosthetic valve stenosis, who are not potential surgical candidates. For this high-risk subset transcatheter valve delivery may be the only option. Here, we present an inoperable patient with severe, prosthetic valve aortic and mitral stenosis who was successfully treated with a trans catheter based approach, with a valve-in-valve implantation procedure of both aortic and mitral valves. PMID:25849702

  16. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    PubMed Central

    2012-01-01

    Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH). Methods Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a

  17. Vascular airway compression management in a case of aortic arch and descending thoracic aortic aneurysm

    PubMed Central

    Kumar, Alok; Dutta, Vikas; Negi, Sunder; Puri, G. D.

    2016-01-01

    Airway compression due to distal aortic arch and descending aortic aneurysm repair has been documented. This case of tracheal and left main stem bronchus compression due to aortic aneurysm occurred in a 42-year-old man. The airway compression poses a challenge for the anesthesiologist in airway management during aortic aneurysm repair surgery. The fiber-optic bronchoscope is very helpful in decision-making both preoperatively and postoperatively in such cases. We report a case of airway compression in a 42-year-old patient who underwent elective distal aortic arch and descending aortic aneurysm repair. PMID:27397474

  18. Vascular airway compression management in a case of aortic arch and descending thoracic aortic aneurysm.

    PubMed

    Kumar, Alok; Dutta, Vikas; Negi, Sunder; Puri, G D

    2016-01-01

    Airway compression due to distal aortic arch and descending aortic aneurysm repair has been documented. This case of tracheal and left main stem bronchus compression due to aortic aneurysm occurred in a 42-year-old man. The airway compression poses a challenge for the anesthesiologist in airway management during aortic aneurysm repair surgery. The fiber-optic bronchoscope is very helpful in decision-making both preoperatively and postoperatively in such cases. We report a case of airway compression in a 42-year-old patient who underwent elective distal aortic arch and descending aortic aneurysm repair. PMID:27397474

  19. Aortic Root Enlargement with Ascending-to-Descending Aortic Bypass in Repair of Coarctation.

    PubMed

    Perry, Paul A; Young, Nilas

    2015-07-01

    Ascending-to-descending aortic bypass is a valuable technique for addressing coarctation of the aorta when additional cardiac procedures are indicated in adults. Among these, aortic valve replacement is one of the most commonly performed concomitant procedures, and there are instances in which aortic root enlargement is required. Herein, a novel technique is described for performing simultaneous ascending-to-descending aortic bypass in conjunction with aortic root enlargement which incorporates the bypass graft as part of the aortic root enlargement. PMID:26897826

  20. Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome

    PubMed Central

    Ozyuksel, Arda; Ersoy, Cihangir; Canturk, Emir; Akcevin, Atif

    2014-01-01

    Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a young girl with a history of aortic root replacement, who had an unusual progressive supra-aortic stenosis managed with urgent surgery during the course of the syndrome. Cardiovascular involvement needs special attention, since it is the major cause of mortality along with rhythm disturbances in the course of Singleton Merten Syndrome. PMID:25193816

  1. Evaluation of aortic cannula jet lesions in a porcine cardiopulmonary bypass (CPB) model.

    PubMed

    Schnürer, C; Hager, M; Györi, G; Velik-Salchner, C; Moser, P L; Laufer, G; Lorenz, I H; Kolbitsch, C

    2011-02-01

    In cardiosurgery patients atherosclerotic debris displaced from the cannulation site but also from the opposite aortic wall by the "sandblast-like" effect of the high-pressure jet emanating from the cannula is a potential source of intraoperative arterial embolization and consequently postoperative neurologic dysfunction. The present study examined the extent to which shear stress exerted on the intact aortic intima by an aortic cannula jet stream can cause endothelial lesions that promote thrombogenesis and consequently thrombembolism. A single-stream, straight-tip aortic cannula was used in a porcine cardiopulmonary bypass (CPB) model. Following a 120-minute CPB pump run, a 60-minute stabilization period was allowed before sacrificing the pigs (N.=40) for histological evaluation of the ascending aorta and the brain. Opposite the cannulation site endothelial lesions (diameter: 3.81±1.3 mm; depth: 0.017±0.003 mm) were present in 22.5% (9/40) of aortic specimens. Cerebral thrombembolic lesions were not found. The present study showed that single-stream, straight-tip aortic cannulas caused jet lesions of the formerly intact aortic endothelium opposite the cannulation site in 22.5% of cases in a porcine CPB model. PMID:21224818

  2. Aortic injuries in newer vehicles.

    PubMed

    Ryb, Gabriel E; Dischinger, Patricia C; Kleinberger, Michael; McGwin, Gerald; Griffin, Russell L

    2013-10-01

    The occurrence of AI was studied in relation to vehicle model year (MY) among front seat vehicular occupants, age≥16 in vehicles MY≥1994, entered in the National Automotive Sampling System Crashworthiness Data System between 1997 and 2010 to determine whether newer vehicles, due to their crashworthiness improvements, are linked to a lower risk of aortic injuries (AI). MY was categorized as 1994-1997, 1998-2004, or 2005-2010 reflecting the introduction of newer occupant protection technology. Logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals for the association between AI and MY independent of possible confounders. Analysis was repeated, stratified by frontal and near lateral impacts. AI occurred in 19,187 (0.06%) of the 31,221,007 (weighted) cases, and contributed to 11% of all deaths. AIs were associated with advanced age, male gender, high BMI, near-side impact, rollover, ejection, collision against a fixed object, high ΔV, vehicle mismatch, unrestrained status, and forward track position. Among frontal crashes, MY 98-04 and MY 05-10 showed increased adjusted odds of AI when compared to MY 94-97 [OR 1.84 (1.02-3.32) and 1.99 (0.93-4.26), respectively]. In contrast, among near-side impact crashes, MY 98-04 and MY 05-10 showed decreased adjusted odds of AI [OR 0.50 (0.25-0.99) and 0.27 (0.06-1.31), respectively]. While occupants of newer vehicles experience lower odds of AI in near side impact crashes, a higher AI risk is present in frontal crashes. PMID:23831451

  3. Decellularized aortic homografts for aortic valve and aorta ascendens replacement†

    PubMed Central

    Tudorache, Igor; Horke, Alexander; Cebotari, Serghei; Sarikouch, Samir; Boethig, Dietmar; Breymann, Thomas; Beerbaum, Philipp; Bertram, Harald; Westhoff-Bleck, Mechthild; Theodoridis, Karolina; Bobylev, Dmitry; Cheptanaru, Eduard; Ciubotaru, Anatol; Haverich, Axel

    2016-01-01

    OBJECTIVES The choice of valve prosthesis for aortic valve replacement (AVR) in young patients is challenging. Decellularized pulmonary homografts (DPHs) have shown excellent results in pulmonary position. Here, we report our early clinical results using decellularized aortic valve homografts (DAHs) for AVR in children and mainly young adults. METHODS This prospective observational study included all 69 patients (44 males) operated from February 2008 to September 2015, with a mean age of 19.7 ± 14.6 years (range 0.2–65.3 years). In 18 patients, a long DAH was used for simultaneous replacement of a dilated ascending aorta as an extended aortic root replacement (EARR). Four patients received simultaneous pulmonary valve replacement with DPH. RESULTS Thirty-nine patients (57%) had a total of 62 previous operations. The mean aortic cross-clamp time in isolated cases was 129 ± 41 min. There was 1 conduit-unrelated death. The mean DAH diameter was 22.4 ± 3.7 mm (range, 10–29 mm), the average peak gradient was 14 ± 15 mmHg and the mean aortic regurgitation grade (0.5 = trace, 1 = mild) was 0.6 ± 0.5. The mean effective orifice area (EOA) of 25 mm diameter DAH was 3.07 ± 0.7 cm2. DAH annulus z-values were 1.1 ± 1.1 at implantation and 0.7 ± 1.3 at the last follow-up. The last mean left ventricle ejection fraction and left ventricle end diastolic volume index was 63 ± 7% and 78 ± 16 ml/m2 body surface area, respectively. To date, no dilatation has been observed at any level of the graft during follow-up; however, the observational time is short (140.4 years in total, mean 2.0 ± 1.8 years, maximum 7.6 years). One small DAH (10 mm at implantation) had to be explanted due to subvalvular stenosis and developing regurgitation after 4.5 years and was replaced with a 17 mm DAH without complication. No calcification of the explanted graft was noticed intraoperatively and after histological analysis, which revealed extensive recellularization without inflammation

  4. Chronic Otitis Media Resulting in Aortic Valve Replacement: A Case Report.

    PubMed

    Guler, Adem; Sahin, Mehmet Ali; Gurkan Yesil, Fahri; Yildizoglu, Uzeyir; Demirkol, Sait; Arslan, Mehmet

    2015-04-01

    The bicuspid aortic valve is known to be the most common congenital cardiac malformation, with an approximate incidence rate of 1-2% in the general population. Most patients are unaware of the disease until the onset of infective endocarditis, which is a life-threatening complication that may affect a heart valve or other cardiac structures at the site of endothelial damage. A 22-year-old man presented to our internal medicine clinic with a complaint of acute onset dyspnea and fatigue. His body temperature was 38 (°)C. A diastolic murmur was detected at the right sternal border. Two-dimensional transthoracic echocardiography revealed severe aortic insufficiency, and two-dimensional transesophageal echocardiography showed that the aortic valve was bicuspid. There was also a flail lesion extending the left ventricular outflow tract, resulting in pathological coaptation and severe aortic insufficiency. The patient was referred to our cardiovascular department for surgery. We herein present this case of a bicuspid aortic valve complicated by infective endocarditis due to the underlying disease of chronic otitis media related to a rare pathogen: Alloiococcus otitidis. The patient underwent a successful aortic valve replacement surgery due to aortic insufficiency following infective endocarditis. He was discharged on the 16(th) postoperative day in good condition. PMID:26110009

  5. Prenatal diagnosis of tetralogy of Fallot with a double aortic arch.

    PubMed

    Cheng, Andrew L; Pruetz, Jay D; Kung, Grace C

    2016-06-01

    In this study, we present a case of prenatally diagnosed tetralogy of Fallot with a double aortic arch, correlating images from fetal echocardiography, transthoracic echocardiography, and cardiac MRI. PMID:26983561

  6. [Intermittent diastolic dysfunction of a mechanical aortic prosthesis: a clinical case].

    PubMed

    Pinneri, F; De Felice, F; Gostoli, E; Garzaro, L; Mazza, A; Borello, G

    2000-09-01

    We describe the case of a 48 year-old man whose Sorin bileaflet aortic prosthesis presented persistent systolic and intermittent diastolic failure due to fibrous tissue overgrowth in the left ventricular outflow tract. PMID:11140292

  7. A Multidisciplinary Approach to Educating Preschool Children with Optic Nerve Hypoplasia and Septo-Optic Nerve Dysplasia.

    ERIC Educational Resources Information Center

    Bahar, Cheryl; Brody, Jill; McCann, Mary Ellen; Mendiola, Rosalinda; Slott, Gayle

    2003-01-01

    This article discusses the observations and experiences of a multidisciplinary team at the Blind Childrens Center in Los Angeles, which works specifically with children from birth to 5 years of age who have been diagnosed with optic nerve hypoplasia and may have septo-optic displasia. Strategies for educational interventions are explained.…

  8. Subtle-discrete aortic dissection without bulging of the aortic wall. A rare but lethal lesion.

    PubMed

    Kalogerakos, Paris Dimitrios; Kampitakis, Emmanouil; Pavlopoulos, Dionisios; Chalkiadakis, George; Lazopoulos, George

    2016-08-01

    We report a subtle-discrete aortic dissection, without bulging of the aortic wall or aneurysm or valve pathology or periaortic effusion, which resulted in a lethal cardiac tamponade to a 35-year-old male. PMID:27357491

  9. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

    PubMed

    Glamuzina, Emma; Brown, Ruth; Hogarth, Kieran; Saunders, Dawn; Russell-Eggitt, Isabelle; Pitt, Matthew; de Sousa, Carlos; Rahman, Shamima; Brown, Garry; Grunewald, Stephanie

    2012-05-01

    Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524), the gene encoding mitochondrial arginyl-transfer RNA (tRNA) synthetase, a protein essential for translation of all mitochondrially synthesised proteins. This case confirms that progressive cerebellar and cerebral atrophy with microcephaly and complex epilepsy are characteristic features of PCH6. Additional features of PCH subtypes 2 and 4, including severe dystonia, optic atrophy and thinning of the corpus callosum, are demonstrated. Congenital lactic acidosis can be present, but respiratory chain dysfunction may be mild or absent, suggesting that disordered mitochondrial messenger RNA (mRNA) translation may not be the only mechanism of impairment or that a secondary mechanism exists to allow some translation. We report two novel mutations and expand the phenotypic spectrum of this likely underdiagnosed PCH variant, where recognition of the characteristic neuroradiological phenotype could potentially expedite genetic diagnosis and limit invasive investigations. PMID:22086604

  10. Phalangeal and Navicular Bone Hypoplasia and Hoof Malformation in the Hind Limbs of a Foal

    PubMed Central

    Smith, D. R. K.; Leach, D. H.; Bell, R. J.

    1986-01-01

    Anatomical anomalies in the hind feet of a seven month old Appaloosa foal were identified and investigated through the use of gross anatomical dissection, radiography and angiography. Abnormalities were restricted to the distal aspect of both hind legs, the right hind leg being more severely affected. Anatomically the right foot resembled that of an equine fetus of approximately 120 days gestational age. Disruption of vascular perfusion to hoof structures was evident in both hind legs and was related to areas of abnormal bone conformation as well as to areas of abnormal ossification and calcification. Phalangeal and navicular bone hypoplasia were apparent as were soft tissue and joint anomalies. Although the etiology of the defects identified remains obscure, several theories are suggested, namely heritability, acquired defects and the possible teratogenic effects of clenbuterol. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:17422612

  11. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.

    PubMed

    Alkindi, Said; Battin, Malcolm; Aftimos, Salim; Purvis, Diana

    2013-01-01

    A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and thus mosaic. This is the first reported boy to have heterozygous mutation for Goltz syndrome who survived due to the extra X chromosome. PMID:23131169

  12. Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

    PubMed

    Nasonkin, Igor O; Ward, Robert D; Raetzman, Lori T; Seasholtz, Audrey F; Saunders, Thomas L; Gillespie, Patrick J; Camper, Sally A

    2004-11-15

    Mutations in Prophet of PIT1 (Prop1), one of several homeodomain transcription factors that are required for the development of the anterior pituitary gland, are the predominant cause of MPHD (multiple pituitary hormone deficiency) in humans. We show that deletion of Prop1 in mice causes severe pituitary hypoplasia with failure of the entire Pit1 lineage and delayed gonadotrope development. The pituitary hormone deficiencies cause secondary endocrine problems and a high rate of perinatal mortality due to respiratory distress. Lung atelectasis in mutants correlates with reduced levels of NKX2.1 and surfactant. Lethality of mice homozygous for either the null allele or a spontaneous hypomorphic allele is strongly influenced by genetic background. Prop1-null mice are an excellent model for MPHD and may be useful for testing the efficacy of pharmaceutical intervention for neonatal respiratory distress. PMID:15459176

  13. Septate uterus with left fallopian tube hypoplasia and ipsilateral ovarian agenesis

    PubMed Central

    Suh, Bo Y.

    2008-01-01

    Objective To report a combined genital tract anomaly of septate uterus, unilateral fallopian tube hypoplasia, and ipsilateral ovarian agenesis. Design Case report. Setting Academic tertiary care center. Patient A 24-year-old female. Intervention(s) History and physical, pelvic sonogram, hysterosalpingogram, intravenous pyelogram, abdominal and pelvic magnetic resonance imaging, diagnostic laparoscopy, exploratory laparotomy, cuff neosalpingostomy, and uterine septum resection. Main Outcome Measure(s) Recognition of three independent and rare reproductive tract anomalies in the same patient. Result(s) Restoration of anatomy and subsequent fertility. Conclusion(s) A careful clinical evaluation with consideration of embryologic origin is essential to the identification and treatment of rare reproductive tract malformations. PMID:18953647

  14. Dynamic LVOT Obstruction and Aortic Stenosis in the Same Patient: A Case of Challenging Doppler Hemodynamics.

    PubMed

    Parker, Matthew W; Kiernan, Francis J

    2015-06-01

    We present a patient with both dynamic left ventricular outflow tract obstruction and valvular aortic stenosis. The aortic valve was calcified, and velocities and gradients measured by continuous-wave Doppler met standard criteria for severe aortic stenosis. The increased subvalvular velocities invalidated assumptions of the simplified Bernoulli equation; correction using the longer form of the Bernoulli equation suggested a lower but still significant gradient. The complex shape of the subvalvular spectral Doppler envelope indicated supranormal systolic function and dynamic left ventricular outflow obstruction. Left heart catheterization with an end-hole catheter was required to determine the subvalvular and valvular components of the obstruction. PMID:25809389

  15. Acute aortic syndrome-pitfalls on gated and non-gated CT scan.

    PubMed

    Husainy, Mohammad Ali; Sayyed, Farhina; Puppala, Sapna

    2016-08-01

    Acute aortic syndrome (AAS) is a life-threatening condition which includes aortic dissection (AD), penetrating aortic ulcer (PAU) and intramural hematoma (IMH). Multi-detector computed tomography (MDCT) plays a crucial role in the diagnosis of this condition and for further clinical follow-up. It is important for radiologists to be aware of common pitfalls in cardiac-gated and non-gated CT in diagnosing AAS. They should also be wary of common mimics of AAS which may make a significant difference towards management of these patients. In this review, we present from our practice some of the common pitfalls and mimics of AAS on MDCT. PMID:27220654

  16. Endovascular management of an acquired aortobronchial fistula following aortic bypass for coarctation

    PubMed Central

    O’Sullivan, Katie E.; Bolster, Ferdia; Lawler, Leo P.; Hurley, John

    2014-01-01

    Aortobronchial fistula (ABF) in the setting of aortic coarctation repair is very rare but uniformly fatal if untreated. Endovascular stenting of the descending aorta is now the first-choice approach for ABF presenting with haemoptysis and offers a less-invasive technique with improved outcomes, compared with open repair. We report a case of late ABF occurring following bypass for aortic coarctation. Management focused on two key manoeuvres: use of a covered endovascular stent to occlude the aortic bypass thus controlling the fistula and dilatation and stenting of native coarctation. PMID:24057860

  17. Hemodynamic Influences on Abdominal Aortic Aneurysm Disease: Application of Biomechanics to Aneurysm Pathophysiology

    PubMed Central

    Dua, Monica M.; Dalman, Ronald L.

    2010-01-01

    “Atherosclerotic” abdominal aortic aneurysms (AAAs) occur with the greatest frequency in the distal aorta. The unique hemodynamic environment of this area predisposes it to site-specific degenerative changes. In this review, we summarize the differential hemodynamic influences present along the length of the abdominal aorta, and demonstrate how alterations in aortic flow and wall shear stress modify AAA progression in experimental models. Improved understanding of aortic hemodynamic risk profiles provides an opportunity to modify patient activity patterns to minimize risk of aneurysmal degeneration. PMID:20347049

  18. Posttranscatheter Aortic Valve Replacement Ventricular Septal Defect During Transfemoral Edwards SAPIEN Valve Implantation.

    PubMed

    Dahl, Aaron; Hoaglan, Carli; Helman, James

    2016-06-01

    Transcatheter aortic valve replacement (TAVR) is gaining favor as a treatment for aortic stenosis in patients at high risk for the open surgical approach. The following is a report of a 95-year-old woman with severe aortic stenosis who presented for TAVR with an Edwards SAPIEN valve. Her medical history included pacemaker-dependent complete heart block and a recent episode of congestive heart failure secondary to a non-ST segment elevation myocardial infarction. The TAVR was performed successfully through an open left femoral artery approach, and the patient was found to have a new perimembranous ventricular septal defect identified postoperatively. PMID:27243581

  19. Aortic Dissection as a Cause of Pulsus Bisferiens: A Case Report and Review.

    PubMed

    Riojas, Christina M; Dodge, Angela; Gallo, Dominic R; White, Paul W

    2016-01-01

    We present a case of a 62-year-old woman who developed an aortic dissection after aortic valve replacement for aortic stenosis and supracoronary replacement of the ascending aorta for aneurysmal dilation. Dynamic compression of the distal aorta by the dissection flap was identified with the detection of abnormal continuous wave Doppler signals heard while performing ankle-brachial indices. Duplex ultrasound (US) and Doppler spectral waveforms confirmed dynamic compression of the distal aorta with each cardiac cycle. We review some of the characteristics of continuous wave Doppler signals, specifically discussing the distinguishing characteristics of pulsus bisferiens, and the use of duplex US in imaging the distal aorta. PMID:26520426

  20. Patent ductus arteriosus masquerading as aortic transection in a trauma victim.

    PubMed

    Lau, William Travis; Wong, David K M; Louie, Henry W

    2008-12-01

    A high-speed motorcycle crash is a risk factor for thoracic aortic injury due to the rapid deceleration mechanism. We present a previously healthy 44-year-old man who was involved in a motorcycle accident. Initial spiral computed tomography indicated an intimal flap, which was visualized with evidence of mediastinal hemorrhage. The man was taken emergently to the operating room where a patent ductus arteriosus was seen at the location of the suspected aortic injury. No true aortic injury was appreciated. PMID:19021962

  1. A model for predicting aortic dynamic response to -G sub z impact acceleration.

    NASA Technical Reports Server (NTRS)

    Advani, S. H.; Tarnay, T. J.; Byars, E. F.; Love, J. S.

    1972-01-01

    A steady state dynamic response model for the radial motion of the aorta is developed from in vivo pressure-displacement and nerve stimulation experiments on canines. The model represented by a modified Van der Pol wave motion oscillator closely predicts steady state and perturbed response results. The applicability of the steady state canine aortic model to tailward acting impact forces is studied by means of the perturbed phase plane of the oscillator. The backflow through the aortic arch resulting from a specified acceleration-time profile is computed and an analysis for predicting the forced motion aortic response is presented.

  2. Extensive Erosion of Vertebral Bodies Due to a Chronic Contained Ruptured Abdominal Aortic Aneurysm

    PubMed Central

    Lombardi, Alecio Fernando; Cardoso, Fabiano Nassar; da Rocha Fernandes, Artur

    2016-01-01

    This report describes a case of chronically ruptured abdominal aortic aneurysm contained within the lumbar vertebral bodies that presented with dull abdominal pain. Sudden, massive hemorrhage is an uncommon, yet well-known complication of an untreated abdominal aortic aneurysm. In addition, misleading clinical and radiological findings present difficult diagnostic challenges in such cases. This report emphasizes the findings obtained with multidetector computed tomography and delineates the differentiation of this condition from similar pathologies. PMID:27200153

  3. Thoracic Aortic Dissection: Are Matrix Metalloproteinases Involved?

    PubMed Central

    Zhang, Xiaoming; Shen, Ying H.; LeMaire, Scott A.

    2010-01-01

    Thoracic aortic dissection, one of the major diseases affecting the aorta, carries a very high mortality rate. Improving our understanding of the pathobiology of this disease may help us develop medical treatments to prevent dissection and subsequent aneurysm formation and rupture. Dissection is associated with degeneration of the aortic media. Recent studies have shown increased expression and activation of a family of proteolytic enzymes—called matrix metalloproteinases (MMPs)—in dissected aortic tissue, suggesting that MMPs may play a major role in this disease. Inhibition of MMPs may be beneficial in reducing MMP-mediated aortic damage associated with dissection. This article reviews the recent literature and summarizes our current understanding of the role of MMPs in the pathobiology of thoracic aortic dissection. The potential importance of MMP inhibition as a future treatment of aortic dissection is also discussed. PMID:19476747

  4. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    PubMed

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P < 0.001). Expert pathologists achieve fair to substantial agreement in grading DVH, indicating consensus on the definition of DVH. Distal villous hypoplasia correlates extremely well with fractal dimension and represents an objective measure for DVH. PMID:26275121

  5. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    SciTech Connect

    Bruckheimer, Elchanan Dagan, Tamir; Atar, Eli; Schwartz, Michael; Kachko, Ludmila; Superina, Riccardo; Amir, Gabriel; Shapiro, Rivka; Birk, Einat

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  6. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males.

    PubMed

    Bosma, J F; Henkin, R I; Christiansen, R L; Herdt, J R

    1981-01-01

    Two males, 9-11 and 29-31 years of age, with severe hypoplasia of the nose, hypoplasia of the eyes, sensory abnormalities of taste and smell, and hypogonadism were studied. The nasal septum, cribriform plates and foramina of the vomeronasal (vn) nerves were demonstrated in both; the capsule of the vn organ was shown in one. Their nasal skeleton, demonstrated by tomoradiography, had grown in early embryological form. The nose was not patent in either patient. In both, the cranial vaults, orbits, epipharynges, and oral cavities were indented toward the hypoplastic nasal composite and the peripheral dimensions of their faces were normal for their respective ages. Each patient had impaired visual function with cataracts and colobomata. Each was unable to recognize the smell of any vapor (Type I hyposmia), and had severe impairment of recognition of any tastant (recognition hypogeusia); detection of vapors and of tastants were in appropriate anatomical areas. Each was unable orally to recognize standard plastic forms (astereognosis) though each could recognize the forms manually. Each patient had bilateral inguinal hernias, one or two undescended testes, and hypogonadotrophic hypogonadism. These patients do not fall within the spectrum of arrhinencephaly because of the presence of medial structure of attachment of the falx cerebri and because of their normal intelligence. Distinction of patients with this pattern of abnormalities from arrhinencephaly is important by reason of their potentiality of normal mental development. We hypothesize that their abnormalities resulted from an embryological disruption that occurred in the first trimester of pregnancy. The embryogenesis of the nasal composite is presumed to have been adequate for reciprocal induction of the anlagen of the forebrain. Development of their faces to normal peripheral dimensions indicates that the nasal composite is not essential for gross facial enlargement. PMID:6802865

  7. Paraplegic Neurodeficit Management Post Endovascular Graft: A Rare Case of Aortic Dissection

    PubMed Central

    Kanse, Vilas Yadavarao; Chongtham, Dhanaraj Singh; Nemichandra, S C; Salam, Kenny Singh

    2013-01-01

    Acute aortic dissection is a catastrophic episode that usually presents as a sudden, painful, ripping sensation in the chest or back. It is associated with neurologic sequelae in as many as one-third of patients. We report a case of aortic dissection, presenting as acute paraplegia. A 50-year-old patient presented to us with chief complaints of paraplegia and back pain. On examination, strength was 5/5 in both upper extremities and 0/5 in both lower extremities. Deep tendon reflexes were absent in her legs. CT angiogram of aorta Aortic Dissection Stanford type B / De-Bakey type –III. Patient was treated with endovascular graft for aortic dissection, paraplegia recovered completely. PMID:24298506

  8. Open repair of chronic complicated type B aortic dissection using the open distal technique

    PubMed Central

    Sandhu, Harleen; Afifi, Rana O.; Azizzadeh, Ali; Charlton-Ouw, Kristofer; Miller, Charles C.; Safi, Hazim J.

    2014-01-01

    Aim The present study aimed to analyze early and late outcomes after open repair of chronic type B aortic dissection. Methods We retrospectively reviewed our cases of open descending thoracic aortic aneurysm (DTAA) with chronic dissection from 1991-2013. Long-term survival and aortic reinterventions were analyzed and patient comorbidities were evaluated in order to determine the risk of adverse outcomes. Furthermore, the technique for “distal first approach” is described. Results Between 1991 and 2013, 240 (40%) descending thoracic aortic repairs with associated chronic dissection were performed. Mean age is 59 years and 178 (74%) are men. The majority of patients (218, 91%) underwent repair using the adjunct of distal aortic perfusion with cerebral spinal fluid drainage. Early mortality was 8.3% (20/240). Permanent neurologic deficit occurred in 1.3% (3/240). Stroke occurred in 2.9% (7/240), and dialysis on discharge in 6% (12/240). 5-, 10-, 15-, and 20-year survival was 72%, 60%, 45%, and 39%, respectively. Freedom from reoperation on the operated segment was 97%, 94%, 94% and 94% at 5, 10, 15 and 20 years. Conclusions Open repairs of chronic descending thoracic dissections can be performed with respectable morbidity and mortality. Risk of neurologic deficit remains low with use of adjuncts, and risk of reintervention on the involved aortic segment is also low. These results allow comparison with endovascular repair for chronic aortic dissection. PMID:25133100

  9. Phenotypic and Functional Changes of Endothelial and Smooth Muscle Cells in Thoracic Aortic Aneurysms

    PubMed Central

    Malashicheva, Anna; Kostina, Daria; Kostina, Aleksandra; Irtyuga, Olga; Voronkina, Irina; Smagina, Larisa; Ignatieva, Elena; Gavriliuk, Natalia; Uspensky, Vladimir; Moiseeva, Olga; Vaage, Jarle; Kostareva, Anna

    2016-01-01

    Thoracic aortic aneurysm develops as a result of complex series of events that alter the cellular structure and the composition of the extracellular matrix of the aortic wall. The purpose of the present work was to study the cellular functions of endothelial and smooth muscle cells from the patients with aneurysms of the thoracic aorta. We studied endothelial and smooth muscle cells from aneurysms in patients with bicuspid aortic valve and with tricuspid aortic valve. The expression of key markers of endothelial (CD31, vWF, and VE-cadherin) and smooth muscle (SMA, SM22α, calponin, and vimentin) cells as well extracellular matrix and MMP activity was studied as well as and apoptosis and cell proliferation. Expression of functional markers of endothelial and smooth muscle cells was reduced in patient cells. Cellular proliferation, migration, and synthesis of extracellular matrix proteins are attenuated in the cells of the patients. We show for the first time that aortic endothelial cell phenotype is changed in the thoracic aortic aneurysms compared to normal aortic wall. In conclusion both endothelial and smooth muscle cells from aneurysms of the ascending aorta have downregulated specific cellular markers and altered functional properties, such as growth rate, apoptosis induction, and extracellular matrix synthesis. PMID:26904289

  10. Involvement of the renin-angiotensin system in abdominal and thoracic aortic aneurysms.

    PubMed

    Lu, Hong; Rateri, Debra L; Bruemmer, Dennis; Cassis, Lisa A; Daugherty, Alan

    2012-11-01

    Aortic aneurysms are relatively common maladies that may lead to the devastating consequence of aortic rupture. AAAs (abdominal aortic aneurysms) and TAAs (thoracic aortic aneurysms) are two common forms of aneurysmal diseases in humans that appear to have distinct pathologies and mechanisms. Despite this divergence, there are numerous and consistent demonstrations that overactivation of the RAS (renin-angiotensin system) promotes both AAAs and TAAs in animal models. For example, in mice, both AAAs and TAAs are formed during infusion of AngII (angiotensin II), the major bioactive peptide in the RAS. There are many proposed mechanisms by which the RAS initiates and perpetuates aortic aneurysms, including effects of AngII on a diverse array of cell types and mediators. These experimental findings are complemented in humans by genetic association studies and retrospective analyses of clinical data that generally support a role of the RAS in both AAAs and TAAs. Given the lack of a validated pharmacological therapy for any form of aortic aneurysm, there is a pressing need to determine whether the consistent findings on the role of the RAS in animal models are translatable to humans afflicted with these diseases. The present review compiles the recent literature that has shown the RAS as a critical component in the pathogenesis of aortic aneurysms. PMID:22788237

  11. Phenotypic and Functional Changes of Endothelial and Smooth Muscle Cells in Thoracic Aortic Aneurysms.

    PubMed

    Malashicheva, Anna; Kostina, Daria; Kostina, Aleksandra; Irtyuga, Olga; Voronkina, Irina; Smagina, Larisa; Ignatieva, Elena; Gavriliuk, Natalia; Uspensky, Vladimir; Moiseeva, Olga; Vaage, Jarle; Kostareva, Anna

    2016-01-01

    Thoracic aortic aneurysm develops as a result of complex series of events that alter the cellular structure and the composition of the extracellular matrix of the aortic wall. The purpose of the present work was to study the cellular functions of endothelial and smooth muscle cells from the patients with aneurysms of the thoracic aorta. We studied endothelial and smooth muscle cells from aneurysms in patients with bicuspid aortic valve and with tricuspid aortic valve. The expression of key markers of endothelial (CD31, vWF, and VE-cadherin) and smooth muscle (SMA, SM22α, calponin, and vimentin) cells as well extracellular matrix and MMP activity was studied as well as and apoptosis and cell proliferation. Expression of functional markers of endothelial and smooth muscle cells was reduced in patient cells. Cellular proliferation, migration, and synthesis of extracellular matrix proteins are attenuated in the cells of the patients. We show for the first time that aortic endothelial cell phenotype is changed in the thoracic aortic aneurysms compared to normal aortic wall. In conclusion both endothelial and smooth muscle cells from aneurysms of the ascending aorta have downregulated specific cellular markers and altered functional properties, such as growth rate, apoptosis induction, and extracellular matrix synthesis. PMID:26904289

  12. Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

    PubMed

    Walker, A P; Fowkes, R C; Saleh, F; Kim, S-H; Wilkinson, P; Cabrera-Sharp, V; Talmud, P J; Humphries, S E; Looijenga, L H J; Bouloux, P M G

    2012-01-01

    There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was examined for evidence of carcinoma in situ (CIS). NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR. Testicular biopsy sections were stained with HE or immunostained for OCT3/4, an established marker of CIS. We identified NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A>G predicting p.(Glu377Gly); pedigree 2 (English Caucasian), c.327C>A predicting p.(Cys109*); pedigree 3 (Oman), a 6-bp deletion of a direct repeat, c.857_862delTGGTGC predicting p.(Leu286_Val287del); pedigree 4 (English Caucasian), c.1168+1G>A, a regulatory variant within the NR0B1 splice donor site. This last male patient, aged 30 years, presented with evidence of HH but incomplete gonadotrophin deficiency, following an earlier diagnosis of Addison's disease at 3 years. Hormonal therapy induced virilisation. Testicular biopsy was performed. The c.1168+1G>A variant abrogated normal splicing of testicular mRNA. Histological examination showed poorly organised testicular architecture and absence of spermatozoa. Morphological analyses and the absence of immunohistochemical staining for OCT3/4 excluded the presence of malignant germ cell cancer and its precursor lesion, CIS. These studies add to the knowledge of the types and ethnic diversity of NR0B1 mutations and their associated phenotypes, and provide insight into the assessment and interpretation of testicular histology in AHC and HH. PMID:23018754

  13. Cervical aortic arch and a new type of double aortic arch. Report of a case.

    PubMed Central

    Cornali, M; Reginato, E; Azzolina, G

    1976-01-01

    A case of cervical aortic arch is reported. To the best of our knowledge, it is the first to be associated with a serious intracardiac anomaly. In addition, it is part of a new type of double aortic arch, caused by failure of reabsorption of both dorsal aortic roots and persistence of the fourth right and second (or third) left branchial arches. PMID:971387

  14. Treatment options for postdissection aortic aneurysms.

    PubMed

    Sobocinski, Jonathan; Patterson, Benjamin O; Clough, Rachel E; Spear, Rafaelle; Martin-Gonzalez, Teresa; Azzaoui, Richard; Hertault, Adrien; Haulon, Stéphan

    2016-04-01

    Aortic dissection is one of the most devastating catastrophes that can affect the aorta. Surgical treatment is proposed only when complications such as rupture or malperfusion occur. No clear consensus has been reached regarding the best therapy to prevent aortic rupture after the acute phase. We have performed a thorough review of the most recent literature on the strategies to treat patients in the chronic phase of aortic dissection. PMID:26771869

  15. Wall shear stress indicators in abnormal aortic geometries

    NASA Astrophysics Data System (ADS)

    Prahl Wittberg, Lisa; van Wyk, Stevin; Fuchs, Laszlo; Gutmark, Ephraim; Gutmark-Little, Iris

    2015-11-01

    Cardiovascular disease, such as atherosclerosis, occurs at specific locations in the arterial tree. Characterizing flow and forces at these locations is crucial to understanding the genesis of disease. Measures such as time average wall shear stress, oscillatory shear index, relative residence time and temporal wall shear stress gradients have been shown to identify plaque prone regions. The present paper examines these indices in three aortic geometries obtained from patients whose aortas are deformed due to a genetic pathology and compared to one normal geometry. This patient group is known to be prone to aortic dissection and our study aims to identify early indicators that will enable timely intervention. Data obtained from cardiac magnetic resonance imaging is used to reconstruct the aortic arch. The local unsteady flow characteristics are calculated, fully resolving the flow field throughout the entire cardiac cycle. The Quemada model is applied to account for the non-Newtonian properties of blood, an empirical model valid for different red blood cell loading. The impact of the deformed aortic geometries is analyzed to identify flow patterns that could lead to arterial disease at certain locations.

  16. Endovascular Treatment of Acute and Chronic Thoracic Aortic Injury

    SciTech Connect

    Raupach, Jan Ferko, Alexander; Lojik, Miroslav; Krajina, Antonin; Harrer, Jan; Dominik, Jan

    2007-11-15

    Our aim is to present midterm results after endovascular repair of acute and chronic blunt aortic injury. Between December 1999 and December 2005, 13 patients were endovascularly treated for blunt aortic injury. Ten patients, 8 men and 2 women, mean age 38.7 years, were treated for acute traumatic injury in the isthmus region of thoracic aorta. Stent-graftings were performed between the fifth hour and the sixth day after injury. Three patients (all males; mean age, 66 years; range, 59-71 years) were treated due to the presence of symptoms of chronic posttraumatic pseudoaneurysm of the thoracic aorta (mean time after injury, 29.4 years, range, 28-32). Fifteen stent-grafts were implanted in 13 patients. In the group with acute aortic injury one patient died due to failure of endovascular technique. Lower leg paraparesis appeared in one patient; the other eight patients were regularly followed up (1-72 months; mean, 35.6 months), without complications. In the group with posttraumatic pseudoaneurysms all three patients are alive. One patient suffered postoperatively from upper arm claudication, which was treated by carotidosubclavian bypass. We conclude that the endoluminal technique can be used successfully in the acute repair of aortic trauma and its consequences. Midterm results are satisfactory, with a low incidence of neurologic complications.

  17. Syphilis as a Cause of Thoracic Aortic Aneurysm.

    PubMed

    Roberts, William C; Barbin, Clay M; Weissenborn, Matthew R; Ko, Jong M; Henry, A Carl

    2015-10-15

    In 2009, we described morphologic findings in 22 patients having resection of an ascending aortic aneurysm in the previous 11 years at the Baylor University Medical Center, and histologic examination of the aneurysmal wall disclosed classic findings of syphilitic aortitis. The major purpose of that extensively illustrated report was to describe the characteristic gross features of the aneurysm such that syphilitic aortitis might be better recognized at operation and appropriate antibiotics administered postoperatively. The aim of the present study was to emphasize that syphilis remains a major cause of ascending aortic aneurysm. From January 1, 2009, to December 31, 2014, we studied additional 23 patients who had resection of an ascending aortic aneurysm that again histologically had classic features of syphilitic aortitis. All 23 patients were found to have syphilitic aortitis grossly and histologically. The aneurysm involved the ascending portion of aorta in all 23, the arch portion in 12, and the descending thoracic portion in 10. In conclusion, syphilis has far from disappeared. It remains a major cause of ascending aortic aneurysm. PMID:26307174

  18. Aortic Aneurysm: Etiopathogenesis and Clinicopathologic Correlations

    PubMed Central

    2016-01-01

    Aortic aneurysm (AA) is one of the life-threatening aortic diseases, leading to aortic rupture of any cause including atherosclerotic and non-atherosclerotic diseases. AA is diagnosed in a variable proportion of patients with dilated aorta by imaging modality. The etiopathogenesis of AA remains unclear in many aortic diseases. Furthermore, although it may be difficult to explain all phenotypes of patients even if genetic mutation could be identified in some proteins such as smooth muscle cell α-actin (ACTA2), myosin heavy chain 11 (MYH11) or SMAD3, individualized consideration of these factors in each patient is essential on the basis of clinicopathological characteristics. PMID:27375798

  19. Practical genetics of thoracic aortic aneurysm.

    PubMed

    Elefteriades, John A; Pomianowski, Pawel

    2013-01-01

    This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational "RNA Signature" test that we have been developing at Yale. PMID:23993238

  20. Brucellosis complicated by aortic valve endocarditis.

    PubMed

    Skillington, P D; McGiffin, D C; Kemp, R; Bett, J H; Holt, G; Forgan-Smith, R

    1988-12-01

    A 30 year old veterinary surgeon developed a febrile illness with serological evidence of Brucellosis. He was known to have aortic valve disease and during the course of the illness, the clinical features of endocarditis became evident, with a vegetation visible echocardiographically on the aortic valve. Because of persisting fever despite appropriate antibiotic therapy, aortic valve replacement with a viable cryopreserved allograft aortic valve was undertaken. Organisms consistent with Brucella species were demonstrated in the excised vegetation. The patient received a six week course of antibiotics and his post-operative course was uneventful. PMID:3250411

  1. Quantification of biomechanical interaction of transcatheter aortic valve stent deployed in porcine and ovine hearts.

    PubMed

    Mummert, Joseph; Sirois, Eric; Sun, Wei

    2013-03-01

    Success of the deployment and function in transcatheter aortic valve replacement is heavily reliant on the tissue-stent interaction. The present study quantified important tissue-stent contact variables of self-expanding transcatheter aortic valve stents when deployed into ovine and porcine aortic roots, such as the stent radial expansion force, stent pullout force, the annulus deformation response and the coefficient of friction on the tissue-stent contact interface. Braided Nitinol stents were developed, tested to determine stent crimped diameter vs. stent radial force from a stent crimp experiment, and deployed in vitro to quantify stent pullout, aortic annulus deformation, and the coefficient of friction between the stent and the aortic tissue from an aortic root-stent interaction experiment. The results indicated that when crimped at body temperature from 26 mm to 19, 21 and 23 mm stent radial forces were approximately 30-40% higher than those crimped at room temperature. Coefficients of friction leveled to approximately 0.10 ± 0.01 as stent wire diameter increased and annulus size decreased from 23 to 19 mm. Regardless of aortic annulus size and species tested, it appeared that a minimum of about 2.5 mm in annular dilatation, caused by about 60 N of radial force from stent expansion, was needed to anchor the stent against a pullout into the left ventricle. The study of the contact biomechanics in animal aortic tissues may help us better understand characteristics of tissue-stent interactions and quantify the baseline responses of non-calcified aortic tissues. PMID:23161165

  2. Contemporary Management of Type B Aortic Dissection in the Endovascular Era.

    PubMed

    Bannazadeh, Mohsen; Tadros, Rami O; McKinsey, James; Chander, Rajiv; Marin, Michael L; Faries, Peter L

    2016-04-01

    Aortic dissection (AD) is one of the most common catastrophic pathologies affecting the aorta. Anatomic classification is based on the origin of entry tear and its extension. Type A dissections originate in the ascending aorta, whereas the entry tear in Type B dissections starts distal to the left subclavian artery. The patients with aortic dissection who manifest complications such as rupture, malperfusion, aneurysmal degeneration, and intractable pain are classified as complicated AD. Risk factors for developing aortic dissection include age, male gender, and aortic wall structural abnormalities. The most common presenting symptom of acute aortic dissection is pain. Malperfusion occurs as a result of end-organ ischemia due to involvement of aortic branches from the dissecting process. This can happen in various locations causing mesenteric ischemia (mesenteric vessels), stroke (aortic arch vessels), renal failure (renal arteries), spinal ischemia, and limb ischemia (iliac or subclavian arteries). Aneurysmal degeneration is the most common complication of patients with chronic Type B dissection who are managed with medical therapy. Management of Type B aortic dissection (TBAD) remains controversial. Many groups recommend conservative therapy for newly diagnosed TBAD and reserve surgical management for patients who develop complications such as rupture, malperfusion, aneurysmal dilatation, and refractory pain. The mainstay of medical therapy includes antihypertensive medication to reduced ΔP/ ΔT by lowering blood pressure and heart rate. With the continued success of thoracic endovascular aortic repair (TEVAR), this procedure has been extended to treat TBAD in selected patients. The outcomes of TEVAR are promising, with early mortality rates from 10% to 20%. With promising results from these series, some groups recommend early TEVAR in uncomplicated TBAD to prevent future adverse events. The goals of endovascular treatment of TBAD are to cover the entry tear

  3. Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.

    PubMed

    Akın, Mustafa Ali; Güneş, Tamer; Akın, Leyla; Çoban, Dilek; Oncu, Sena Kara; Kiraz, Aslıhan; Kurtoğlu, Selim

    2011-01-01

    Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3(rd) week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report. PMID:21448332

  4. Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth

    PubMed Central

    Pierce, G. F.; Polmar, S. H.

    1982-01-01

    Defects of in vitro B and T lymphocyte function and impaired delayed type hypersen-sitivity reactions, as well as an increased risk of lethal viral infections have been reported in cartilage hair hypoplasia (CHH), an autosomal recessive form of short limbed dwarfism. We have previously found an intrinsic proliferative defect that affected several cell types from CHH individuals. In order to further evaluate it we developed continuous T cell lines (CTCL) from CHH and normal individuals. The T cells from cultures of CHH and normal individuals were indistinguishable with respect to cell surface antigens characteristic of fully differentiated T cells, as defined by monoclonal antibody analysis. However, CHH T cells produced significantly less interleukin 2 (IL2) than normal T cells and the growth of CHH CTCL in response to exogenously supplied IL2 was markedly diminished (cell cycle 120-165 hr) compared to normal CTCL (cell cycle 48-60 hr). Furthermore, the exogenous IL2 was not absorbed from growth medium by CHH CTCL at the same rate as normal CTCL. Both production and utilization of IL2 are cell cycle specific events that occur during G1 phase before the onset of DNA synthesis (S phase). Thus, CHH T lymphocytes appear to have a defect related to G1 phase that results in a longer cell cycle for individual cells, and leads to decreased proliferation of the population. We postulate that this G1 phase defect is present in multiple cell types in CHH and that analysis of continuous T cell lines from CHH individuals may permit the identification of this defect. PMID:6984669

  5. Thoracic Endovascular Aortic Repair in a Patient with Mobile Aortic Thrombosis

    PubMed Central

    Lohrmann, Graham M.; Peters, Ferande

    2014-01-01

    A 58-year-old female presented with acute arterial insufficiency to her left leg. Following cardiovascular evaluation using multimodality imaging, it was discovered that she had mobile thoracic thrombi overlying a normal descending thoracic aorta which had also caused a splenic infarction. This patient was treated with unfractionated heparin for three days and underwent subsequent thoracic endovascular aortic repair (TEVAR) uneventfully with no subsequent complications at one-year followup. This case highlights the diagnostic and therapeutic challenges in treating patients with this uncommon challenging clinical scenario. PMID:24716094

  6. A Unique Case of Aortic Thrombosis With Elevated Lipoprotein(a).

    PubMed

    Ostertag-Hill, Claire A; Titus, Jessica M; Skeik, Nedaa

    2016-05-01

    Aortic thrombosis is a rare condition that can be caused by atherosclerosis, aneurysms, thrombophilia, vasculitis, trauma, and malignancy. Symptoms vary based on thrombus size and site of embolization. It can lead to devastating complications including acute limb ischemia, myocardial infarction, stroke, and other target organ ischemia. Diagnosis is based on clinical presentation, imaging findings, and relevant laboratory work-up. Although not well defined, management for aortic thrombosis includes surgical intervention, such as thromboembolectomy, and conservative measures, such as anticoagulation. Here, we present a unique case of aortic thrombosis causing acute lower limb ischemia with elevated lipoprotein(a) and other comorbidities. Based on our literature review, our article is the first to establish the connection between elevated lipoprotein(a) and aortic thrombosis in the nonaneurysmal aorta. PMID:27075991

  7. Descending aortic replacement after Nuss for pectus excavatum in a Marfan patient—Case report

    PubMed Central

    Jaroszewski, Dawn; Ewais, MennatAllah; DeValeria, Patrick; Gotway, Michael; Craig Miller, D.

    2016-01-01

    Introduction The Nuss procedure for pectus excavatum (PE) repair has been successfully performed in Marfan syndrome (MFS) patients however there is concern for future risk of aortic dilation/rupture and need for emergent access with support bars in place. Case presentation We present a 45 year-old male with MFS that required descending aortic replacement shortly after modified Nuss repair. Discussion The majority of MFS patients have severe PE and repair with the Nuss procedure is not uncommon. The risk for life threatening aortic dilation, dissection, or rupture in such patients is a concern when utilizing this technique. Our work has been reported in line with the CARE criteria. Conclusion Nuss repair should be considered in MFS patients with technique modifications and careful consideration of future risk of aortic dilation and rupture. PMID:26895112

  8. Vertebral destruction due to abdominal aortic aneurysm

    PubMed Central

    Jiménez Viseu Pinheiro, J.F.; Blanco Blanco, J.F.; Pescador Hernández, D.; García García, F.J.

    2014-01-01

    Introduction Low back pain is a common cause of medical consultation, and usually supposes a non-malignant prognostic. Presentation of case We report an atypical appearance of low back pain associated to shock and pulsatile abdominal mass that made us diagnose an abdominal aortic aneurysm as reason of vertebral lysis and pain. Discusion Surgical repair of contained AAA should be directed to secondary re-rupture prevention, with an approximate survival near to 100% at selected patients for elective surgery. Consequently, orthopedic surgery for back spine stabilization has to be elective in those cases when vertebral destruction is above 30% and clinic is directly related to spine instability. Conclusion We should consider AAA as other cause of low back pain and routinely examine the abdomen and seek complementary imaging proves when risk factors for AAA are present. PMID:25569196

  9. [Surgical aspects of acute aortic dissection].

    PubMed

    Laas, J; Heinemann, M; Jurmann, M; Borst, H G

    1992-12-01

    This paper highlights some of the surgical aspects of acute aortic dissections such as: emergency diagnosis, indications for surgery, reconstructive operative techniques, malperfusion phenomena and necessity for follow-up. Aortic dissection is caused by an intimal tear, called the "entry", and subsequent splitting of the media by the stream of blood. Two lumina are thus created, which may communicate through "re-entries". As this creates severe weakness of the aortic wall, rupture and/or dilatation are the imminent dangers of acute aortic dissection. Acute aortic dissection type A, by definition involving the ascending aorta (Figures 1 and 2), is an absolute indication for emergency surgical treatment, because its natural history shows an extremely poor outcome (Figure 3). Due to impending (intrapericardial) aortic rupture, it may be necessary to limit diagnostic procedures to a minimum. Transesophageal echocardiography is the method of choice for establishing a quick, precise and reliable diagnosis (Figure 4). In stable patients, computed tomography gives additional information about aortic diameters or sites of extrapericardial perforation. Digital subtraction angiography (DSA) shows perfusion of the lumina and dependent organs. The surgical strategy in acute aortic dissection type A aims at replacement of the ascending aorta. Reconstructive techniques have to be considered, especially in aortic valve regurgitation without annuloectasia (Figures 5 and 6). In recent times, the use of GRF tissue glue has reduced the need for teflon felt. Involvement of the aortic arch should be treated aggressively up to the point of total arch replacement in deep hypothermic circulatory arrest as part of the primary procedure (Figure 7). Malperfusion phenomena of aortic branches remain risk-factors.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1483624

  10. Replacement of a Björk-Shiley Delrin Aortic Valve Still Functioning after 25 Years

    PubMed Central

    Badak, M. Ismail; Ozkisacik, Erdem Ali; Boga, Mehmet; Gurcun, Ugur; Discigil, Berent

    2004-01-01

    We report the case of a patient who had undergone implantation of a Björk-Shiley Delrin valve in the aortic position 25 years earlier and who now presented with severe mitral stenosis. The patient underwent mitral valve replacement and aortic valve re-replacement. We review the justification for prophylactic replacement of Björk-Shiley Delrin heart valves. PMID:15562853

  11. Premature Bioprosthetic Aortic Valve Degeneration Associated with Allergy to Galactose-Alpha-1,3-Galactose.

    PubMed

    Hawkins, Robert B; Frischtak, Helena L; Kron, Irving L; Ghanta, Ravi K

    2016-07-01

    We present the cases of two patients with bioprosthetic aortic valves who developed an allergy to alpha-gal. Each had premature degeneration of their bioprosthesis and demonstrated rapidly increasing transvalvular gradients after development of their allergy. Each underwent successful replacement with a mechanical aortic valve within 1-2 years of symptom onset. doi: 10.1111/jocs.12764 (J Card Surg 2016;31:446-448). PMID:27238083

  12. A mycotic abdominal aortic aneurysm caused by Listeria monocytogenes in a patient with HIV infection

    PubMed Central

    Gunst, Jesper Damsgaard; Jensen-Fangel, Søren

    2014-01-01

    A 65-year-old man with HIV infection presented with acute severe abdominal pain radiating to the back. A CT scan revealed an infrarenal abdominal aortic aneurysm, and an aortobifemoral bypass was undertaken. Subsequently, tissue specimens from the aortic wall grew Listeria monocytogenes. The patient received 8 weeks of intravenous antibiotic treatment followed by oral sulfotrim as secondary prophylaxis and made an uneventful recovery. PMID:24443338

  13. Giant syphilitic aortic aneurysm: a case report and review of the literature.

    PubMed

    Tomey, Matthew I; Murthy, Venkatesh L; Beckman, Joshua A

    2011-10-01

    Thoracic aortic aneurysm formation is a known complication of late syphilis. Large aneurysms may cause symptoms via mass effect. When aneurysms compress the pulmonary artery, pulmonary arterial hypertension and right heart failure may result. We report the case of a 76-year-old man who presented with right heart failure secondary to an 11-cm syphilitic thoracic aortic aneurysm, and discuss the evolving epidemiology, complications, diagnosis and management of syphilitic aortitis. PMID:21844068

  14. [Unicuspid Aortic Valve Stenosis Combined with Aortic Coarctation;Report of a Case].

    PubMed

    Kubota, Takehiro; Wakasa, Satoru; Shingu, Yasushige; Matsui, Yoshiro

    2016-06-01

    Unicuspid aortic valve in an adult is extremely rare. In addition, 90% of the patients with aortic coarctation are reported to die before the age 50. A 60-year-old woman was admitted to our hospital for further examination of exertional dyspnea which had begun one year before. She had been under medical treatment for hypertension since early thirties, and had been also diagnosed with moderate aortic stenosis at 50 years of age. She was at 1st diagnosed with aortic coarctation combined with bicuspid aortic valve stenosis. The aortic valve was then found unicuspid and was replaced under cardiopulmonary bypass with perfusion to both the ascending aorta and the femoral artery. Repair of aortic coarctation was performed 3 months later through left thoracotomy without extracorporeal circulation due to the rich collateral circulation. She had no postoperative complications, and hypertension as well as ankle-brachial index improved to the normal levels. PMID:27246132

  15. Aortic Dissection and Thrombosis Diagnosed by Emergency Ultrasound in a Patient with Leg Pain and Paralysis

    PubMed Central

    Tsung, Ann H.; Nickels, Leslie C.; De Portu, Giuliano; Flach, Eike F.; Stead, Latha Ganti

    2013-01-01

    The authors present a case of aortic dissection and abdominal aortic aneurysm thrombosis in a 78-year-old male who presented to the emergency department (ED) complaining of lower extremity and paralysis for the past 1.5 hours. The initial vital signs in the ED were as follows: blood pressure (BP) 132/88 mmHg, heart rate (HR) 96, respiratory rate (RR) 14, and an oxygen saturation of 94% at room air. Physical exam was notable for pale and cold left leg. The ED physician was unable to palpate or detect a Doppler signal in the left femoral artery. Bedside ultrasound was performed which showed non-pulsatile left femoral artery and limited flow on color Doppler. Abdominal aortic aneurysm screening ultrasound was performed showing a 4.99 cm infrarenal abdominal aortic aneurysm and an intra-aortic thrombus with an intimal flap. Vascular surgery was promptly contacted and the patient underwent emergent aorto-bi-femoral bypass, bilateral four compartment fasciotomy, right common femoral artery endarterectomy with profundoplasty, and subsequent left leg amputation. Emergency physicians should utilize bedside ultrasound in patients who present with risk factors or threatening signs and symptoms that may suggest aortic dissection or aneurysm. Bedside ultrasound decreases time to definitive treatment and the mortality of the patients. PMID:23431495

  16. Changing strategy for aortic stenosis with coronary artery disease by transcatheter aortic valve implantation.

    PubMed

    Kobayashi, Junjiro

    2013-12-01

    Coronary artery disease (CAD) is combined with aortic stenosis (AS) in 40-50 % of patients with typical angina. Recently, transcatheter aortic valve implantation (TAVI) has changed the guideline for AS in patients with high comorbidity. At the same time more than 60 % of isolated CABG has been performed without cardiopulmonary bypass in Japan. CABG is recommended and should be considered in patients with primary indication for AVR and luminal stenosis >70 % in major coronary arteries and the left internal thoracic artery (LITA) by guidelines. AVR is indicated for severe AS undergoing CABG. It is generally accepted to perform AVR for moderate AS at the time of CABG by valve guidelines. However, prophylactic AVR for moderate AS associated with CABG may increase the early operative risk and expose the patients to postoperative long-term valve related complications. AVR after previous CABG poses potential risk for mortality and morbidity. The presence of patent ITA is a significant risk of its injury and difficulty of myocardial protection during aortic cross-clamping. Therefore, at present, for severe AS previous CABG with patent ITA should be one of the definite indications of TAVI. Rationale of TAVI in patients with severe AS and CAD has not been clearly delineated. The safety of TAVI irrespective of the extent and anatomy of CAD is still controversial. PCI is not appropriate before TAVI in high-risk patients with CAD. In the near future hybrid TAVI will be realistic considering least operative mortality and morbidity in high-risk patients. PMID:23546769

  17. Thoracic endovascular aortic repair for complicated chronic type B aortic dissection in a patient on hemodialysis with recurrent ischemic colitis.

    PubMed

    Miyazaki, Yuko; Furuyama, Tadashi; Matsubara, Yutaka; Yoshiya, Keiji; Yoshiga, Ryosuke; Inoue, Kentaro; Matsuda, Daisuke; Aoyagi, Yukihiko; Kato, Masaaki; Matsumoto, Takuya; Maehara, Yoshihiko

    2016-12-01

    We present a successful case of thoracic endovascular aortic repair (TEVAR) for chronic Stanford type B aortic dissection (B-AD) with recurrent ischemic colitis. The patient was a 56-year-old woman with abdominal pain as the main complaint who had two operations previously: the total arch replacement 8 years ago and the Bentall 7 years ago for acute Stanford type A aortic dissection. Her abdominal pain worsened as her blood pressure became low during her hemodialysis treatment. An enhanced computed tomography scan was performed on the patient and showed chronic B-AD that occurred from the distal anastomotic part of the total arch graft to the bilateral common iliac arteries. The celiac artery and superior mesenteric artery (SMA) arose from the true lumen, and these were compressed by the expanded false lumen. Her complicated chronic B-AD was treated with the Zenith Dissection Endovascular System, and its procedure was performed as her proximal entry tear was covered by a proximal tapered Zenith TX2 stent graft, supplemented by a noncovered aortic stent extending across both renal arteries, the SMA, and the celiac artery. Seven days after this operation, enhanced computed tomography showed that the patient's true lumen was expanded and her blood flow to the true lumen and SMA was improved. On the other hand, her false lumen tended to be thrombosed. Consequently, she was discharged 10 days after the operation without any postoperative complications as she had no abdominal complaints even though she underwent hemodialysis three times per week after the operation. We believe that TEVAR supplemented by a noncovered aortic stent is an effective treatment, even for highly chronic B-AD in dialysis patients. PMID:27090121

  18. Infective endocarditis in bicuspid aortic valve: atrioventricular block as sign of perivalvular abscess.

    PubMed

    Bacchion, Francesco; Cukon, Sonja; Rizzoli, Giulio; Gerosa, Gino; Daliento, Luciano; Thiene, Gaetano; Basso, Cristina

    2007-01-01

    A 46-year-old man presenting with fever, peripheral edema, and chest pain was admitted to the emergency department. Electrocardiogram showed sinus tachycardia and first-degree atrioventricular block. Transesophageal echocardiogram showed infective endocarditis in bicuspid aortic valve, complicated with severe aortic regurgitation, ring abscess, and sinus-of-Valsalva aneurysm extending to mitroaortic fibrous continuity. The patient, who was unaware of his bicuspid aortic valve condition, reported having undergone an orthodontic procedure complicated with dental abscess 1 month prior, which was treated with combined clavulanate-amoxicillin antibiotic therapy. Blood cultures were positive for Bacteroides fragilis resistant to metronidazole. Intravenous antibiotic therapy was undertaken, with rapid resolution of fever. He eventually underwent successful aortic homograft implantation and mitral valve repair with residual first-degree atrioventricular block. PMID:17637435

  19. State-of-the-Art Surgical Management of Acute Type A Aortic Dissection.

    PubMed

    El-Hamamsy, Ismail; Ouzounian, Maral; Demers, Philippe; McClure, Scott; Hassan, Ansar; Dagenais, Francois; Chu, Michael W A; Pozeg, Zlatko; Bozinovski, John; Peterson, Mark D; Boodhwani, Munir; McArthur, Roderick G G; Appoo, Jehangir J

    2016-01-01

    Acute type A aortic dissections still present a major challenge to cardiac surgeons. Although surgical management remains the gold standard, operative mortality remains high, including in experienced centres. Nevertheless, recent advances in the understanding and management of various aspects of these complex operations are expected to improve overall patient outcomes. The Canadian Thoracic Aortic Collaborative (CTAC) represents a group of surgeons with interest and expertise in the management of patients with aortic diseases. The purpose of this state-of-the-art review is to detail our approach to the contemporary surgical management of acute type A aortic dissections. We focus specifically on cannulation strategies, cerebral protection, and extent of proximal and distal resection. In addition, specific clinical scenarios-including malperfusion, intramural hematomas, and surgery in octogenarians-are explored. PMID:26604123

  20. Biomechanical roles of medial pooling of glycosaminoglycans in thoracic aortic dissection

    PubMed Central

    Roccabianca, Sara; Ateshian, Gerard A.; Humphrey, Jay D.

    2013-01-01

    Spontaneous dissection of the human thoracic aorta is responsible for significant morbidity and mortality, yet this devastating biomechanical failure process remains poorly understood. In this paper, we present finite element simulations that support a new hypothesis for the initiation of aortic dissections that is motivated by extensive histopathological observations. Specifically, our parametric simulations show that the pooling of glycosaminoglycans/proteoglycans that is singularly characteristic of the compromised thoracic aorta in aneurysms and dissections can lead to significant stress concentrations and intra-lamellar Donnan swelling pressures. We submit that these localized increases in intramural stress may be sufficient both to disrupt the normal cell-matrix interactions that are fundamental to aortic homeostasis and to delaminate the layered microstructure of the aortic wall and thereby initiate dissection. Hence, pathologic pooling of glycosaminoglycans/proteoglycans within the medial layer of the thoracic aortic should be considered as a possible target for clinical intervention. PMID:23494585

  1. Aortic intimal sarcoma with embolic metastases.

    PubMed

    Wright, E P; Glick, A D; Virmani, R; Page, D L

    1985-12-01

    A 46-year-old woman died from massive bowel infarction. At autopsy, a primary sarcoma was found growing along the intimal surface of the aorta at the level of the celiac axis. Tumor emboli were found in distal aortic branches and most abdominal organs. Immunoperoxidase for Factor VIII and electron microscopy (EM) did not support an endothelial origin. EM showed myofibroblastic differentiation. Review of the literature yields an array of diagnostic histologic terms for these tumors, hampering case comparison. The literature does suggest, however, that the clinical presentation of these rare neoplasms correlates nicely with the location and gross morphology of the lesion. We therefore propose a clinicopathologic classification, categorizing the lesions as intimal (obstructive and nonobstructive) and mural. The former are typically pleomorphic sarcomas and are probably of myofibroblastic origin, whereas the latter are usually leiomyosarcomas or fibrosarcomas that probably originate in the media or adventitia. PMID:3000205

  2. The coagulopathy associated with aortic aneurysms.

    PubMed Central

    Gétaz, E. P.; Louw, J. H.

    1977-01-01

    The authors in this article record their experience with eight-four patients with abdominal aortic aneurysms. Twenty-seven patients (32%) presented with ruptured aneurysms with an overall mortality of 56%. Of the unruptured aneurysms, 67% were operable with a mortality of 5.3%. The highest mortality amongst the patients with ruptured aneurysms was in the group who was shocked. In the group with ruptured aneurysms, of those in whom platelet counts were performed, 50% were abnormally low, and 56% had evidence of abnormal coagulation. Seventy per cent of those with coagulation abnormalities died. In the unruptured group 28.2% had thrombocytopenia but no other abnormalities of coagulation. All patients undergoint aneurysm resection should have a platelet count and a full clotting screen. Therapy should be directed to normalization of the coagulation system. PMID:593992

  3. Iatrogenic aortic pseudoaneurysm: a forgotten complication.

    PubMed

    Almeida, Samuel; Bico, Pedro; Almeida, António R; Laranjeira Santos, Álvaro; Banazol, Nuno; Fragata, José; Rabaçal, Carlos

    2014-02-01

    Pseudoaneurysms of the ascending aorta are a rare complication of cardiac surgery. However, the poor prognosis associated with this condition if untreated makes early diagnosis and treatment important. We present the case of a 66-year-old woman who had undergone mitral valvuloplasty 12 days previously, who was admitted with a diagnosis of new-onset atrial fibrillation. The transthoracic echocardiogram showed a clot in the right atrium and anticoagulation was initiated, followed by antibiotic therapy. After further investigation, the patient was diagnosed with a pseudoaneurysm of the ascending aorta and underwent surgical repair, followed by six weeks of antibiotic therapy. She was readmitted six months later for an abscess of the lower sternum and mediastinum. After a conservative approach with antibiotics and local drainage failed, recurrence of a large pseudoaneurysm compressing the superior vena cava was documented. A third operation was performed to debride the infected tissue and to place an aortic allograft. There were no postoperative complications. PMID:24508151

  4. Abdominal aortic aneurysm--the forgotten diagnosis?

    PubMed Central

    Contini, S.; McMaster, P.

    1980-01-01

    A review of all cases of abdominal aortic aneurysm presenting to Addenbrooke's Hospital, Cambridge, in a 4-year period revealed that there were 118 such patients and confirmed the relatively low operative mortality for elective aneurysmal surgery (6.6%) compared with the high mortality (66.6%) for ruptured or leaking abdominal aneurysm. In only 50% of the cases was the correct diagnosis made during the lifetime of the patient; nor was the correct diagnosis always made after admission to hospital. The need for an early and accurate diagnosis of abdominal aneurysms is stressed and an increased awareness of this condition, based on well established clinical features, would undoubtedly reduce the overall mortality. Images Fig. 1 PMID:7393787

  5. Intraoperative tracking of aortic valve plane.

    PubMed

    Nguyen, D L H; Garreau, M; Auffret, V; Le Breton, H; Verhoye, J P; Haigron, P

    2013-01-01

    The main objective of this work is to track the aortic valve plane in intra-operative fluoroscopic images in order to optimize and secure Transcatheter Aortic Valve Implantation (TAVI) procedure. This paper is focused on the issue of aortic valve calcifications tracking in fluoroscopic images. We propose a new method based on the Tracking-Learning-Detection approach, applied to the aortic valve calcifications in order to determine the position of the aortic valve plane in intra-operative TAVI images. This main contribution concerns the improvement of object detection by updating the recursive tracker in which all features are tracked jointly. The approach has been evaluated on four patient databases, providing an absolute mean displacement error less than 10 pixels (≈2mm). Its suitability for the TAVI procedure has been analyzed. PMID:24110703

  6. Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle.

    PubMed

    Longobardo, Luca; Jain, Renuka; Carerj, Scipione; Zito, Concetta; Khandheria, Bijoy K

    2016-08-01

    Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve. PMID:27059385

  7. Acute aortic dissection in pregnant women.

    PubMed

    Yang, Zhaohua; Yang, Shouguo; Wang, Fangshun; Wang, Chunsheng

    2016-05-01

    Acute aortic dissection occurring during pregnancy represents a lethal risk to both the mother and fetus. Management of parturient with acute aortic dissection is complex. We report our experience of two pregnancies with type A acute aortic dissection. One patient is a 31-year-old pregnant woman (33rd gestational week) with a bicuspid aortic valve and the other is a 32-year-old pregnant woman (30th gestational week) with the Marfan syndrome. In both cases, a combined emergency operation consisting of Cesarean section, total hysterectomy prior to corrective surgery for aortic dissection was successfully performed within a relatively short period of time after the onset. Both patients' postoperative recovery was uneventful, and we achieved a favorable maternal and fetal outcome. PMID:25085319

  8. In the era of the valve-in-valve: is transcatheter aortic valve implantation (TAVI) in sutureless valves feasible?

    PubMed Central

    Saia, Francesco; Pellicciari, Giovanni; Phan, Kevin; Ferlito, Marinella; Dall’Ara, Gianni; Di Bartolomeo, Roberto; Marzocchi, Antonio

    2015-01-01

    Sutureless aortic valve implantation has emerged as an innovative alternative for treatment of aortic stenosis. By avoiding the placement of sutures, this approach aims to improve surgical outcomes by facilitating less traumatic minimally invasive approaches and reducing cross-clamp and cardiopulmonary bypass duration. However, the absence of sutures may have detrimental effects after sutureless interventions, including paravalvular leakages, valve dislocation, and stent-infolding. Transcatheter aortic valve-in-valve implantation (A-ViV) is emerging as a valuable procedure in patients with dysfunctioning biological aortic valves who are deemed inoperable with conventional surgery. Here we present the first-in-man case of trans-femoral implant of a balloon expandable aortic valve in a leaking sutureless self-expandable valve. PMID:25870827

  9. In the era of the valve-in-valve: is transcatheter aortic valve implantation (TAVI) in sutureless valves feasible?

    PubMed

    Di Eusanio, Marco; Saia, Francesco; Pellicciari, Giovanni; Phan, Kevin; Ferlito, Marinella; Dall'Ara, Gianni; Di Bartolomeo, Roberto; Marzocchi, Antonio

    2015-03-01

    Sutureless aortic valve implantation has emerged as an innovative alternative for treatment of aortic stenosis. By avoiding the placement of sutures, this approach aims to improve surgical outcomes by facilitating less traumatic minimally invasive approaches and reducing cross-clamp and cardiopulmonary bypass duration. However, the absence of sutures may have detrimental effects after sutureless interventions, including paravalvular leakages, valve dislocation, and stent-infolding. Transcatheter aortic valve-in-valve implantation (A-ViV) is emerging as a valuable procedure in patients with dysfunctioning biological aortic valves who are deemed inoperable with conventional surgery. Here we present the first-in-man case of trans-femoral implant of a balloon expandable aortic valve in a leaking sutureless self-expandable valve. PMID:25870827

  10. Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction

    PubMed Central

    Fei, Xiang; Yang, Hai-Rui; Yu, Peng-Fei; Sheng, Hai-Bo; Gu, Guo-Li

    2016-01-01

    Abdominal cocoon syndrome (ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS. PMID:27239122

  11. Isolated Congenital Unilateral Agenesis of the Left Pulmonary Artery with Left Lung Hypoplasia in an Asymptomatic Adult Patient

    PubMed Central

    Emren, Sadık Volkan; Tülüce, Selcen Yakar; Tülüce, Kamil

    2015-01-01

    The congenital unilateral agenesis of pulmonary artery is a congenital cardiovascular anomaly rarely seen in adulthood. A 21-year-old asymptomatic male was admitted to our hospital to obtain a routine health report to accompany a job application. Posteroanterior chest radiograph revealed a mediastinal shift to the left, with increased radiopacity in the left lung and increased radiolucency in the right lung. Thoracoabdominal computed tomography revealed hypoplasia of the left pulmonary artery. Transthoracic echocardiography excluded any accompanying cardiac abnormalities. Pulmonary angiography was undertaken and confirmed diffuse hypoplasia of the left pulmonary artery while right pulmonary artery was significantly enlarged. The patient’s pulmonary artery pressure was within the normal limits, after which he decided to be carefully followed-up. PMID:27122926

  12. Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction.

    PubMed

    Fei, Xiang; Yang, Hai-Rui; Yu, Peng-Fei; Sheng, Hai-Bo; Gu, Guo-Li

    2016-05-28

    Abdominal cocoon syndrome (ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS. PMID:27239122

  13. Aortic Aging in ESRD: Structural, Hemodynamic, and Mortality Implications.

    PubMed

    London, Gérard M; Safar, Michel E; Pannier, Bruno

    2016-06-01

    Aging incurs aortic stiffening and dilation, but these changes are less pronounced in peripheral arteries, resulting in stiffness and geometry gradients influencing progression of the forward and reflected pressure waves. Because premature arterial aging is observed in ESRD, we determined the respective roles of stiffness and aortic geometry gradients in 73 controls and 156 patients on hemodialysis. We measured aortic pulse wave velocity (PWV) and brachial PWV to evaluate the stiffness gradient [(brachial PWV/aortic PWV)(0.5)] and ascending aortic and aortic bifurcation diameters to assess aortic taper (ascending aortic diameter/aortic bifurcation diameter). The global reflection coefficient was estimated from characteristic impedance and vascular resistance. Cox proportional hazard models were used to determine mortality risk. The age-associated increase in aortic PWV was higher in patients (P<0.001). In controls, aortic ascending and bifurcation diameters increased with age, with an unchanged aortic taper. In patients on hemodialysis, age did not associate with increased ascending aortic diameter but did associate with increased aortic bifurcation diameter and decreased aortic taper, both of which also associated with abdominal aortic calcifications and smaller global reflection coefficient (P<0.001). In patients, multivariate models revealed all-cause and cardiovascular mortality associated with age, aortic PWV, and aortic bifurcation diameter with high specificity and sensitivity. Using stiffness gradient, aortic taper, or global reflection coefficient in the model produced similar results. Thus, whereas aortic stiffness is a known independent predictor of mortality, these results indicate the importance of also evaluating the aortic geometry in patients on hemodialysis. PMID:26475595

  14. Bicuspid aortic valve hemodynamics does not promote remodeling in porcine aortic wall concavity

    PubMed Central

    Atkins, Samantha K; Moore, Alison N; Sucosky, Philippe

    2016-01-01

    AIM: To investigate the role of type-I left-right bicuspid aortic valve (LR-BAV) hemodynamic stresses in the remodeling of the thoracic ascending aorta (AA) concavity, in the absence of underlying genetic or structural defects. METHODS: Transient wall shear stress (WSS) profiles in the concavity of tricuspid aortic valve (TAV) and LR-BAV AAs were obtained computationally. Tissue specimens excised from the concavity of normal (non-dilated) porcine AAs were subjected for 48 h to those stress environments using a shear stress bioreactor. Tissue remodeling was characterized in terms of matrix metalloproteinase (MMP) expression and activity via immunostaining and gelatin zymography. RESULTS: Immunostaining semi-quantification results indicated no significant difference in MMP-2 and MMP-9 expression between the tissue groups exposed to TAV and LR-BAV AA WSS (P = 0.80 and P = 0.19, respectively). Zymography densitometry revealed no difference in MMP-2 activity (total activity, active form and latent form) between the groups subjected to TAV AA and LR-BAV AA WSS (P = 0.08, P = 0.15 and P = 0.59, respectively). CONCLUSION: The hemodynamic stress environment present in the concavity of type-I LR-BAV AA does not cause any significant change in proteolytic enzyme expression and activity as compared to that present in the TAV AA. PMID:26839660

  15. Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog

    PubMed Central

    Cosgrove, Laura; Hammond, Gawain; Mclauchlan, Gerard

    2015-01-01

    This report describes a Spanish water dog with an ammonium urate urethrolith which was diagnosed with primary portal vein hypoplasia and was found to be homozygous for the mutated SLC2A9 gene. This is the first Spanish water dog described with the SLC2A9 mutation and the first case of concurrent portal vascular abnormalities and SLC2A9 mutation. PMID:26538670

  16. Perceval S aortic valve implantation in an achondroplastic Dwarf

    PubMed Central

    Baikoussis, Nikolaos G.; Argiriou, Michalis; Argiriou, Orestis; Dedeilias, Panagiotis

    2016-01-01

    Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58-year-old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography. PMID:26750695

  17. Perceval S aortic valve implantation in an achondroplastic Dwarf.

    PubMed

    Baikoussis, Nikolaos G; Argiriou, Michalis; Argiriou, Orestis; Dedeilias, Panagiotis

    2016-01-01

    Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58-year-old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography. PMID:26750695

  18. Giant Thoracic Aneurysm Following Valve Replacement for Bicuspid Aortic Valve.

    PubMed

    Tran, Cao; Ul Haq, Ehtesham; Nguyen, Ngoc; Omar, Bassam

    2015-01-01

    Bicuspid aortic valve is a common congenital anomaly associated with aortopathy, which can cause aortic root dilatation, necessitating regular screening if the aortic root is > 4.0 cm. Despite the low absolute incidence of aortic complications associated with bicuspid aortic valve in the general population, the consequences of such complications for an individual patient can be devastating. Herein we propose a balanced algorithm that incorporates recommendations from the three major guidelines for follow-up imaging of the aortic root and ascending thoracic aorta in patients with a bicuspid aortic valve, maintaining the current recommendations with regard to surgical thresholds. PMID:26827748

  19. A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism.

    PubMed

    Wang, Chun Lin; Fen, Zhu Wei; Liang, Li

    2014-03-01

    We report the case of a 12-year-old boy with a de novo mutation in the DAX1 gene (for dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1; also called NROB1). He was born at term, Addison's disease was diagnosed at 8 years with a salt-wasting syndrome, and then hydrocortisone substitution was taken; the child continued to develop normally. A reoccurrence of salt-wasting syndrome usually happened after an episode of an abrupt withdrawal of hydrocortisone substitution. Because of adrenal insufficiency without hypogonadotropic hypogonadism, he came to the clinic at 12 years of age and hypoplasia of adrenal glands was found by MRI scans. We proposed the diagnosis of congenital adrenal hypoplasia in this patient and identified a hemizygous mutation (c.999_1000insCTCA, p.Leu335ThrfsX389) in exon 1 of the DAX1 gene. To our knowledge, it is a de novo mutation that leads to a frame-shift, a premature stop codon. In conclusion, it is very important to identify mutation in the DAX1 gene for a boy with adrenal insufficiency of unknown etiology. PMID:24197767

  20. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    SciTech Connect

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  1. Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia

    PubMed Central

    Teo, Adrian Kee Keong; Lau, Hwee Hui; Valdez, Ivan Achel; Dirice, Ercument; Tjora, Erling; Raeder, Helge; Kulkarni, Rohit N.

    2016-01-01

    Summary Patients with an HNF1BS148L/+ mutation (MODY5) typically exhibit pancreatic hypoplasia. However, the molecular mechanisms are unknown due to inaccessibility of patient material and because mouse models do not fully recapitulate MODY5. Here, we differentiated MODY5 human-induced pluripotent stem cells (hiPSCs) into pancreatic progenitors, and show that the HNF1BS148L/+ mutation causes a compensatory increase in several pancreatic transcription factors, and surprisingly, a decrease in PAX6 pancreatic gene expression. The lack of suppression of PDX1, PTF1A, GATA4, and GATA6 indicates that MODY5-mediated pancreatic hypoplasia is mechanistically independent. Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1BS148L/+ but not wild-type HNF1B or HNF1A. Furthermore, HNF1B does not appear to directly regulate PAX6 gene expression necessary for glucose tolerance. Our results demonstrate compensatory mechanisms in the pancreatic transcription factor network due to mutant HNF1BS148L/+ protein. Thus, patients typically develop MODY5 but not neonatal diabetes despite exhibiting pancreatic hypoplasia. PMID:26876668

  2. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    PubMed Central

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P < 0.05), with the mean overjet increased by 14.28 mm. However, comparison of cephalometric analysis between T2 and T3 showed no significant difference (P > 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  3. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

    PubMed

    Mäkitie, O

    1992-09-01

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia characterised by short limbed short stature, hypoplastic hair growth, and impaired cell mediated immunity and erythrocyte production. The syndrome is exceptionally prevalent among the Finns and among the Old Order Amish in the United States; sporadic cases have been reported from other countries. An epidemiological and genetic study of CHH in Finland showed 107 patients, 46 males and 61 females, in 85 families. Eighteen of them had died, seven before the age of 1 year. The living patients ranged in age from 1 to 51 years, median 21 years. The incidence was estimated to be 1:23,000 live births. Consanguinity was found in two families and interfamilial relationships in 20 families. Geographical distribution of the birth places of the patients and their great grandparents showed accumulation in a small area in western Finland and regional clusters were seen in other parts of the country as well. The result of the segregation analysis was in accordance with recessive inheritance with reduced penetrance. PMID:1404295

  4. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    PubMed Central

    Pagnamenta, Alistair T.; Howard, Malcolm F.; Wisniewski, Eva; Popitsch, Niko; Knight, Samantha J.L.; Keays, David A.; Quaghebeur, Gerardine; Cox, Helen; Cox, Phillip; Balla, Tamas; Taylor, Jenny C.; Kini, Usha

    2015-01-01

    Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of the genome for which both chromosomes were shared identical-by-descent, reducing the search space for causative variants to 8.6% of the genome. In these regions, the only plausibly pathogenic mutations were compound heterozygous variants in PI4KA, which Sanger sequencing confirmed segregated consistent with autosomal recessive inheritance. The paternally transmitted variant predicted a premature stop mutation (c.2386C>T; p.R796X), whereas the maternally transmitted variant predicted a missense substitution (c.5560G>A; p.D1854N) at a conserved residue within the catalytic domain. Functional studies using expressed wild-type or mutant PI4KA enzyme confirmed the importance of p.D1854 for kinase activity. Our results emphasize the importance of phosphoinositide signalling in early brain development. PMID:25855803

  5. Apoptosis during an early stage of nephrogenesis induces renal hypoplasia in bcl-2-deficient mice.

    PubMed Central

    Nagata, M.; Nakauchi, H.; Nakayama, K.; Nakayama, K.; Loh, D.; Watanabe, T.

    1996-01-01

    Renal development in bcl-2-deficient mice was monitored to examine the temporal and spatial function of this gene during nephrogenesis in vivo. Extensive apoptosis occurred during abnormal nephrogenesis in bcl-2-deficient mice. In embryos and newborn mice, the sequence of morphological events was monitored by morphology in conjunction with morphometry, and bcl-2 -/-, bcl-2 +/-, and bcl-2 +/+ mice were compared. In bcl-2 -/- mice, initial induction of nephrons was detected by embryonic day 13 (E-13) as normal. Then, apoptotic cells became five times more frequent at E-13 to E-16 with a significant reduction (1/5) in nephron number at E-17 to E-19 in bcl-2 -/- mice compared with bcl-2 +/+ mice. No morphological difference was evident between bcl-2 +/- mice and bcl-2 +/+ mice by morphometry. Apoptotic cells were found mainly among the mesenchyme and less frequently in tubuli. Little apoptosis among ureteric buds was noted. In bcl-2 -/- mice at E-17 to E-19, inactive branching and insufficient convolution of ureteric buds were accompanied by fulminant apoptosis in the mesenchyme. Neonatal bcl-2 -/- mice lacked the nephrogenic zone, exhibiting renal hypoplasia. Thus, bcl-2 seems to inhibit apoptosis in renal stem cells during the induction of nephrons in vivo. Images Figure 1 Figure 2 Figure 3 Figure 5 Figure 6 Figure 7 Figure 8 PMID:8623928

  6. In vivo administration of IL-1 induces thymic hypoplasia and increased levels of serum corticosterone

    SciTech Connect

    Morrissey, P.J.; Charrier, K.; Alpert, A.; Bressler, L.

    1988-09-01

    Administration of IL-1 alpha or IL-1 beta to normal mice induces a decrease in thymic cellularity, the magnitude of which depends on the number of injections and dose of IL-1. Twice daily injections of 200 ng of IL-1 alpha or -beta for 4 days results in a 90% decrease in thymic cellularity, which regenerated after cessation of treatment. Study of thymocyte subpopulations revealed that the number of CD4+/CD8+ thymocytes was dramatically decreased in IL-1-treated mice. Functional assessment of the CD4-/CD8- population from treated animals showed that these cells had adequate mitogenic responses in vitro and that the proportion of these cells in cycle was not different from control CD4-/CD8- cells. IL-1 treatment also prevented the regeneration of thymic cellularity after irradiation. The use of strains of mice differing genetically at the Ly 1 locus to construct radiation bone marrow chimeras demonstrated that bone marrow-derived thymocyte precursors were able to seed the thymus in the IL-1-treated animals. Again, however, the CD4+/CD8+ thymocyte population was significantly decreased. Thymic repopulation occurred upon cessation of IL-1 therapy. Finally, we determined that a single i.p. injection of IL-1 caused a three-fold increase in serum corticosterone levels, which peaked approximately 3 h after IL-1 administration. Thus, an IL-1-dependent increase in serum corticosterone levels may be responsible for the observed thymic hypoplasia.

  7. Sinus Hypoplasia Precedes Sinus Infection in a Porcine Model of Cystic Fibrosis

    PubMed Central

    Chang, Eugene H; Pezzulo, Alejandro A; Meyerholz, David K; Potash, Andrea E; Wallen, Tanner J; Reznikov, Leah R; Sieren, Jessica C; Karp, Philip H; Ernst, Sarah; Moninger, Thomas O; Gansemer, Nicholas D; McCray, Paul B; Stoltz, David A; Welsh, Michael J; Zabner, Joseph

    2012-01-01

    Objectives/Hypothesis Chronic sinusitis is nearly universal in humans with cystic fibrosis (CF) and is accompanied by sinus hypoplasia (small sinuses). However, whether impaired sinus development is a primary feature of loss of the cystic fibrosis transmembrane conductance regulator (CFTR) or a secondary consequence of chronic infection remains unknown. Our objective was to study the early pathogenesis of sinus disease in CF. Study Design Animal/basic science research. Methods Sinus development was studied in a porcine CF model. Results Porcine sinus epithelia expressed CFTR and exhibited transepithelial anion transport. Disruption of the CFTR gene eliminated both. Sinuses of newborn CF pigs were not infected and showed no evidence of inflammation, yet were hypoplastic at birth. Older CF pigs spontaneously developed sinus disease similar to that seen in humans with CF. Conclusions These results define a role for CFTR in sinus development and suggest the potential of the CF pig as a genetic model of CF-sinus disease in which to test therapeutic strategies to minimize sinus-related CF morbidity. PMID:22711071

  8. High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene

    SciTech Connect

    Sulisalo, T.; Klockars, J.; Chapelle, A. de la; Kaitila, I. |; Maekitie, O.; Sistonen, P.; Francomano, C.A.

    1994-11-01

    We recently assigned the gene for an autosomal recessive skeletal dysplasia, cartilage-hair hypoplasia (CHH), to 9p21-p13 in Finnish and Amish families. An association was observed between CHH and alleles at D9S163 in both family series, suggesting that these loci are in linkage disequilibrium and close to each other. Here we extended these studies by exploiting the linkage-disequilibrium information that can be obtained from families with a single affected child, and we studied 66 Finnish CHH families with seven microsatellite markers. The analysis based on the Luria and Delbrueck (1943) method and adapted to the study of human founder populations suggests that the distance between CHH and D9S163 is {approximately}0.3 cM. An eight-point linkage analysis modified to take advantage of all possible information in 15 Finnish and 17 Amish families was capable of narrowing the likely location of CHH to within an interval of 1.7 cM on a male map. The peak lod score of 54.92 was attained 0.03 and 0.1 cM proximal to D9S163 on the male and female maps, respectively. These results confirm the power of genetic resolution, that lies in the study of linkage disequilibrium in well-defined founder populations with one major ancestral disease mutation. 21 refs., 4 figs., 3 tabs.

  9. Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus

    PubMed Central

    Garcia-Filion, Pamela; Borchert, Mark

    2013-01-01

    Optic nerve hypoplasia (ONH), a congenital malformation characterized by an underdeveloped optic nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. While the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g. recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common prenatal features that may help focus research efforts in the identification of likely prenatal correlates. A review of the past 50 years of epidemiologic research was conducted to examine the prenatal features linked with ONH and provide direction for future research. There are select prominent prenatal features associated with ONH: young maternal age and primiparity. Commonly implicated prenatal exposures (e.g., recreational or pharmaceutical drugs, viral infection, etc.) were rare or uncommon in large cohort studies of ONH and therefore unlikely to be major contributors to ONH. Familial cases and gene mutations are rare. The preponderance of young mothers and primiparity among cases of ONH is striking, although the significance is unclear. Recent research suggests a potential role for prenatal nutrition, weight gain, and factors of deprivation. With the rapidly increasing prevalence of ONH, future research should focus on investigating the relevance of young maternal age and primiparity and exploring the recently suggested etiologic correlates in epidemic clusters of ONH. PMID:24160732

  10. Iron as the Key Modulator of Hepcidin Expression in Erythroid Antibody-Mediated Hypoplasia

    PubMed Central

    Fernandes, J. C.; Garrido, P.; Ribeiro, S.; Rocha-Pereira, P.; Bronze-da-Rocha, E.; Belo, L.; Costa, E.; Reis, F.; Santos-Silva, A.

    2014-01-01

    Erythroid hypoplasia (EH) is a rare complication associated with recombinant human erythropoietin (rHuEPO) therapies, due to development of anti-rHuEPO antibodies; however, the underlying mechanisms remain poorly clarified. Our aim was to manage a rat model of antibody-mediated EH induced by rHuEPO and study the impact on iron metabolism and erythropoiesis. Wistar rats treated during 9 weeks with a high rHuEPO dose (200 IU) developed EH, as shown by anemia, reduced erythroblasts, reticulocytopenia, and plasmatic anti-rHuEPO antibodies. Serum iron was increased and associated with mRNA overexpression of hepatic hepcidin and other iron regulatory mediators and downregulation of matriptase-2; overexpression of divalent metal transporter 1 and ferroportin was observed in duodenum and liver. Decreased EPO expression was observed in kidney and liver, while EPO receptor was overexpressed in liver. Endogenous EPO levels were normal, suggesting that anti-rHuEPO antibodies blunted EPO function. Our results suggest that anti-rHuEPO antibodies inhibit erythropoiesis causing anemia. This leads to a serum iron increase, which seems to stimulate hepcidin expression despite no evidence of inflammation, thus suggesting iron as the key modulator of hepcidin synthesis. These findings might contribute to improving new therapeutic strategies against rHuEPO resistance and/or development of antibody-mediated EH in patients under rHuEPO therapy. PMID:25580431

  11. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

    SciTech Connect

    Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A.

    1993-05-01

    The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

  12. Multiple Requirements of the Focal Dermal Hypoplasia Gene Porcupine during Ocular Morphogenesis

    PubMed Central

    Bankhead, Elizabeth J.; Colasanto, Mary P.; Dyorich, Kayla M.; Jamrich, Milan; Murtaugh, L. Charles; Fuhrmann, Sabine

    2016-01-01

    Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia. Although genetic ablation of Porcn in mouse has provided insight into the etiology of defects caused by ectomesodermal dysplasia in FDH, the requirement for Porcn and the actual Wnt ligands during eye development have been unknown. In this study, Porcn hemizygosity occasionally caused ocular defects reminiscent of FDH. Conditional inactivation of Porcn in periocular mesenchyme led to defects in mid- and hindbrain and in craniofacial development, but was insufficient to cause ocular abnormalities. However, a combination of conditional Porcn depletion in optic vesicle neuroectoderm, lens, and neural crest–derived periocular mesenchyme induced severe eye abnormalities with high penetrance. In particular, we observed coloboma, transdifferentiation of the dorsal and ventral retinal pigment epithelium, defective optic cup periphery, and closure defects of the eyelid, as well as defective corneal morphogenesis. Thus, Porcn is required in both extraocular and neuroectodermal tissues to regulate distinct Wnt-dependent processes during morphogenesis of the posterior and anterior segments of the eye. PMID:25451153

  13. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

    PubMed

    Bordon, Victoria; Gennery, Andrew R; Slatter, Mary A; Vandecruys, Els; Laureys, Genevieve; Veys, Paul; Qasim, Waseem; Waseem, Qasim; Friedrich, Wilhelm; Wulfraat, Nico M; Scherer, Franziska; Cant, Andrew J; Fischer, Alain; Cavazzana-Calvo, Marina; Cavazanna-Calvo, Marina; Bredius, Robbert G M; Notarangelo, Luigi D; Mazzolari, Evelina; Neven, Benedicte; Güngör, Tayfun; Tayfun, Güngör

    2010-07-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood ( approximately 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients. PMID:20375313

  14. Vertebral artery hypoplasia, posterior circulation infarction and relative hypoperfusion detected by perfusion magnetic resonance imaging semiquantitatively.

    PubMed

    Zhang, Dao Pei; Ma, Qian Kun; Zhang, Jie Wen; Zhang, Shu Ling; Lu, Gui Feng; Yin, Suo

    2016-09-15

    Vertebral artery hypoplasia (VAH) has been considered a risk factor of posterior circulation infarction (PCI), especially in the territory of the posterior inferior cerebellar artery (PICA). But whether VAH is an independent risk factor for PCI remains uncertain and how VAH participates in the evolvement of PCI is still not clear either. Therefore, this study aims to examine whether VAH is an independent risk factor for PCI and evaluate the effect of VAH on the cerebral perfusion in the territory of the PICA detected by perfusion magnetic resonance imaging (MRI) semiquantitatively. Both univariate and multivariate analyses showed that VAH, hypertension and smoking were more frequent in patients with PCI than in patients without PCI. Perfusion MRI analysis found that there were remarkable differences in the frequency of the relative cerebral blood flow (rCBF) value ≤0.85 and the relative time to peak (rTTP) values between VAH patients without PCI and non-VAH patients without PCI. Our results indicated that VAH may be an independent risk factor for PCI, especially in the presence of hypertension and smoking and that a relative hypoperfusion associates with VAH that may contribute to the evolvement of the infarction in the PICA territory. PMID:27538599

  15. Congenitally corrected transposition and degenerative severe aortic stenosis.

    PubMed

    Faganello, Giorgio; Nelson, Martin; Stuart, Graham

    2008-10-01

    Congenitally corrected transposition is a rare cardiac anomaly characterized by the combination of discordant atrioventricular and ventriculoarterial connections. Young patients with this lesion can present with congestive cardiac failure, usually secondary to a large ventricular septal defect or pulmonary stenosis. We report here our experience with a lady aged 79, admitted to our unit because of deterioration of her congestive cardiac failure as a consequence of uncorrected congenitally corrected transposition associated with degenerative severe aortic stenosis. PMID:18752714

  16. Abdominal aortic thrombosis and tuberculosis: an uncommon association.

    PubMed

    Sharma, Alka; Sharma, Vishal

    2014-11-01

    Thrombosis of the abdominal aorta is an uncommon event and usually occurs in a diseased vessel. We report a case of a 42-year-old male who presented with abdominal distension and was found to have tuberculosis-related ascites and was incidentally found to have aortic thrombosis. The patient improved with four-drug anti-tubercular therapy and anticoagulation. The occurrence of non-occlusive thrombosis of the abdominal aorta in tuberculosis is unusual. PMID:24759354

  17. Left cervical aortic arch: diagnosis by radioisotope and ultrasound techniques

    SciTech Connect

    Camiel, M.R.; Glanz, S.; Gordon, D.H.; Weiner, R.

    1982-01-01

    Two case histories are presented of patients with a developmental variant of the heart. The condition is usually innocuous but its appearance is confusing and incorrect diagnoses are possible. Although the abnormality is usually first detected by routine chest X-ray, radionuclide angiography and sonography are more appropriate diagnostic measures. The two methods can differentiate between the cervical aortic arch and aneurysm or lung tumor. (JMT)

  18. Theoretical analysis of magnetic field interactions with aortic blood flow

    SciTech Connect

    Kinouchi, Y.; Yamaguchi, H.; Tenforde, T.S.

    1996-04-01

    The flow of blood in the presence of a magnetic field gives rise to induced voltages in the major arteries of the central circulatory system. Under certain simplifying conditions, such as the assumption that the length of major arteries (e.g., the aorta) is infinite and that the vessel walls are not electrically conductive, the distribution of induced voltages and currents within these blood vessels can be calculated with reasonable precision. However, the propagation of magnetically induced voltages and currents from the aorta into neighboring tissue structures such as the sinuatrial node of the heart has not been previously determined by any experimental or theoretical technique. In the analysis presented in this paper, a solution of the complete Navier-Stokes equation was obtained by the finite element technique for blood flow through the ascending and descending aortic vessels in the presence of a uniform static magnetic field. Spatial distributions of the magnetically induced voltage and current were obtained for the aortic vessel and surrounding tissues under the assumption that the wall of the aorta is electrically conductive. Results are presented for the calculated values of magnetically induced voltages and current densities in the aorta and surrounding tissue structures, including the sinuatrial node, and for their field-strength dependence. In addition, an analysis is presented of magnetohydrodynamic interactions that lead to a small reduction of blood volume flow at high field levels above approximately 10 tesla (T). Quantitative results are presented on the offsetting effects of oppositely directed blood flows in the ascending and descending aortic segments, and a quantitative estimate is made of the effects of assuming an infinite vs. a finite length of the aortic vessel in calculating the magnetically induced voltage and current density distribution in tissue.

  19. Aortic dissection and sport: physiologic and clinical understanding provide an opportunity to save young lives.

    PubMed

    Mayerick, C; Carré, F; Elefteriades, J

    2010-10-01

    Understanding the relationship between acute type A aortic dissection and sport is crucial to prevent sudden cardiac death in seemingly healthy young individuals. Aerobic exercise produces only a modest rise in arterial blood pressure (140-160 mmHg) except at the highest levels of exertion, at which pressures between 180-220 mmHg are reached. Weight training, on the other hand, routinely produces acute rises in blood pressure to over 300 mmHg. This presents a danger for individuals with an unknown aortic aneurysm; the deteriorated mechanical properties of the aortic wall resulting from aneurysmal enlargement increase the susceptibility to aortic rupture when the high wall coincident with exertion exceeds the tensile strength of the aortic wall. Investigations by our group into the inciting events leading up to dissection have demonstrated a causal link between extreme exertion, severe emotional stress, and acute type A aortic dissection. Since aortic enlargement is often unknown to persons participating in weight training, especially in the youth population, a ìSnapShot Echocardiogramî screening program is been proposed; such a pilot program will raise awareness of the importance of pre-participation cardiac screening and allow for early detection of aneurysms as a means of preventing this ìsilent killerî from striking. As strong supporters of the numerous benefits of weight training, we encourage this activity in individuals without aneurysm; without aneurysm, wall tension does not reach dangerous levels, even at extremes of exertion. For individuals with known aortic dilatation, we recommend a program that limits their lifting to 50% of body weight in the bench press or equivalent level of perceived exertion for other specific strength exercises. PMID:20924328

  20. Valve morphology effect in aortic coarctation flow using realistic silicon models and magnetic resonance imaging

    NASA Astrophysics Data System (ADS)

    Marrufo, Oscar; Solis-Najera, Sergio; Pibarot, Philippe; Kadem, Lyes; Kesharvarz-Motamed, Zahra; Rodriguez, Alfredo O.; Garcia, Julio

    2014-11-01

    Aortic valve morphology and phenotype may alter the aortic wall structure and its normal flow hemodynamics. However, the relationship between altered flow patterns and progression of wall pathology is often not fully understood in patients with aortic coartation and needs larger experimental work. In this study, we introduced a compatible experimental setup with magnetic resonance imaging (MRI) using a realistic aortic coarctation (AoCo) silicon model which can replicate physiological flow conditions (pressure, flow-wave, and systemic load). We evaluated the aortic valve hemodynamics of a normal tricuspid valve and a stenotic bicuspid valve using valve effective orifice area (EOA), peak and mean transvalvular pressure gradient (TPG). AoCo severity was assessed by the AoCo pressure gradient. For the tricuspid valve we obtained an EOA = 1.89 cm2, a peak TPG = 10 mmHg, and a mean TPG = 5 mmHg. For the bicuspid valve we obtained an EOA = 1.03 cm2, a peak TPG = 37 mmHg and a mean TPG = 13 mmHg. Furthermore, AoCo with tricuspid valve led to a peak AoCo pressure gradient (PG) = 11 mmHg and a mean PG = 5 mmHg. AoCo with bicuspid valve led to a peak PG = 6 mmHg and a mean PG = 3 mmHg. Aortic flow reattachment was more evident in presence of bicuspid valve and helical flow was present in all cases. This study showed that silicon prototyping in combination with MRI velocity measurements could successfully be used to assess hemodynamic effects of aortic valve morphology in aortic coarctation flow.