BACKGROUND: Supravalvular aortic stenosis (SVAS) is an uncommon congenital abnormality that presents with intimal thickening of the aortic media at the sinotubular junction. Given the congenital nature of the disease, patients usually become symptomatic in childhood.
METHODS: A 48-year-old man developed symptomatic SVAS in middle age. A patch aortoplasty with a bovine pericardial patch was performed. His postoperative course was uneventful, and echocardiography revealed a significant decrease in peak velocity and pressure gradient.
CONCLUSIONS: SVAS, a congenital heart disease with an incidence of 1 in 20,000 live births, is often linked to Williams syndrome but can also occur independently. Isolated SVAS is generally less severe and may not show symptoms in childhood. Its narrowing often stabilizes after growth, but in this middle-aged patient, symptoms appeared later in life. SVAS usually presents as discrete thickening above the sinuses of Valsalva or as diffuse narrowing along the ascending aorta. Surgical relief is the common treatment, with flap plasty using various patch techniques. This patient, having discrete stenosis and intact aortic valve function, underwent single-patch expansion. Key to this surgery is avoiding coronary artery stenosis, by considering coronary orifice location and other cardiac anomalies. A bovine pericardial patch was chosen for its bleeding control benefits.
CONCLUSIONS: Although SVAS progression in middle age is quite rare, it can be successfully corrected with detailed and selected surgical procedures.

Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported.
We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms.
We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.

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BACKGROUND: Williams-Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis.
METHODS: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS.
CONCLUSIONS: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.

A 38-year-old woman presented with exertional dyspnea and chest compression. She had undergone repair of congenital supravalvular aortic stenosis at 8 years of age. Contrast-enhanced computed tomography showed re-stenosis in the ascending aorta, bilateral coronary arterial aneurysm, and a highly thickened left ventricular wall. Release of stenosis was necessary to avoid left ventricular functional deterioration; however, it could cause demand-supply mismatch in coronary flow due to substantial left ventricular hypertrophy. Sufficient statistical evidence was not available in this situation; therefore, computerized virtual surgery based on computational fluid dynamics (CFD) was performed to predict the postoperative hemodynamics. Consequently, root replacement with in situ Carrel patch coronary reconstruction was considered a better option than coronary artery graft bypass in the left-side coronary flow supply. The patient underwent root replacement with in situ Carrel patch coronary reconstruction as planned based on CFD without any complication and was discharged 15 days postoperatively.

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted.

Supravalvular aortic stenosis is the rarest form of congenital left ventricular outflow tract obstruction. It can be associated with Williams syndrome or it may be an isolated anomaly. Although infective endocarditis is common in valvular aortic stenosis, in supravalvular aortic stenosis infective endocarditis/endarteritis is rarely reported. We report a case of infective endarteritis in a case of supravalvular aortic stenosis due to resistant enterococci, causing prolonged fever. Blood culture-directed antibiotic therapy cured the infection. case.>.

BACKGROUND: Pulseless electrical activity cardiac arrest is associated with poor outcomes and the identification of potentially reversible reasons for cardiac arrest is fundamental.
METHODS: We describe the case of a 46-year-old male with the rare coincidental finding of supravalvular aortic stenosis and coronary vasospasm leading to recurrent pulseless electrical activity cardiac arrest. Extracorporeal life support was successfully applied for hemodynamic stabilization. Supravalvular aorticstenosis underwent surgical repair. The patient survived five time resuscitation and was discharged after full neurological recovery.
CONCLUSIONS: Coronary vasospasm and supravalvular aortic stenosis are rare but potentially reversible causes of pulseless electrical activity cardiac arrest. Extracorporeal life support allows accurate diagnostic and possibly therapy even of uncommon reasons for cardiac arrest.

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