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.

Williams-Beuren syndrome (WBS) is a multisystem congenital disorder, whose cardiovascular defects are the leading cause of death. We present the case of a 38-year-old man with features of heart failure. The imaging studies showed a typical supravalvular aortic stenosis and a hammock mitral valve, this last, being a rare congenital disease. This is the first case reported of a hammock mitral valve in a patient with this chromosomopathy.

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Supravalvular aortic stenosis is a rare congenital anomaly (less than 0.05% of all congenital heart defects). This aortic root anomaly consists in a narrow aortic lumen immediately above the aortic valve and represents the least common form of left ventricular outflow tract obstruction. Clinical presentation is usually in the first decades of life. In most cases, the aortic valve leaflets are morphologically normal. However, aortic insufficiency due the high systolic pressure proximal to the sinotubular junction is the most commonly abnormality described. There are very few cases described in the literature with concomitant valvular and supra-valvular aortic stenosis.

Williams syndrome (WS) is a rare congenital developmental disorder caused by the deletion of between 26 and 28 genes on chromosome 7q11.23. For patients with WS, in view of the particularity of the supravalvular aortic stenosis, choosing appropriate arterial cannula, maintaining higher perfusion pressure as well as strengthening myocardial protection during cardiopulmonary bypass (CPB) is essential to the clinical outcome. Here, we report a child with pulmonary artery valvular stenosis who failed to wean off CPB because of malignant arrhythmias and cardiac insufficiency after surgical correction of pulmonary valvular stenosis. With the assistance of extracorporeal membrane oxygenation (ECMO), emergency cardiac catheterization revealed supravalvular aortic stenosis (SVAS), which suggests a suspected missed diagnosis of WS. Finally, under the support of ECMO, the cardiac function gradually returned to normal, and the child was discharged 23 days after surgery.

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.

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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A 1-year-old boy with a bicuspid aortic valve, who had undergone successful repair of coarctation of the aorta by extended end-to-end direct anastomosis at the age of 1 month, was found to have mild supravalvular aortic stenosis involving the left coronary ostium. Because he was so young, we performed a modified Myers\' all-autologous 3-sinus reconstruction to allow for potential growth. After transecting the ascending aorta just above the sinotubular junction, the superior wall of the left coronary ostium and the aortic root between both commissures were incised longitudinally, and then each of the incised parts was augmented by creating three flaps of distal aortic wall directly. Postoperatively, myocardial scintigram confirmed resolution of the pressure gradient at the supravalvular stenotic portion and improvement of the perfusion defect in the septal-anterior area.