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.

OBJECTIVE: The aim of this study was to identify the prevalence and anatomic characteristics of coronary artery lesions and their associated postoperative risk in patients undergoing supravalvular aortic stenosis repair.
METHODS: The association between structural risk factors, postoperative ST-segment changes, and major adverse cardiac events was explored using logistic regression and the Fisher\'s exact test.
RESULTS: In 51 consecutive patients with supravalvular aortic stenosis treated between 2000 and 2017, a total of 48 coronary lesions were identified in 27 patients (53%). Prominent ostial ridge (type I) was the most common coronary lesion, followed by small ostium with (IIIb) or without (IIIa) diffuse long-segment coronary narrowing, and adhesion of the coronary cusp (type II). There were 54 concomitant coronary procedures, including 43 primary corrections and 11 revisions. Thirty-three patients underwent supravalvular aortic stenosis repair with a bifurcated patch, of which 13 (39.4%) had right coronary artery distortion/kinking requiring patch plication (n = 8) and reimplantation (n = 5). Postoperative major adverse cardiac events (MACE) occurred in 9 patients (17.6%), including 3 deaths, 4 needing mechanical circulatory support, and 6 experiencing ventricular arrhythmias. Twenty-two patients (43.1%) had postoperative ST-segment changes, including 13 early changes that resolved within 24 h and 9 persistent changes lasting >24 h. Patients with type III lesions were associated with postoperative persistent ST-segment change (P = 0.04) and these lesions independently predicted postoperative MACE (P = 0.02). Patients with pre-existing coronary lesions were at elevated risk of right coronary artery distortion/kinking (P = 0.045).
CONCLUSIONS: The prevalence of ST-segment changes and MACE is high in patients undergoing supravalvular aortic stenosis repair. The preoperative presence of complex coronary lesions is the most important predictor for postoperative major adverse cardiac events.

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.

OBJECTIVE: Congenital supravalvular aortic stenosis (SVAS) is a rare form of congenital outflow tract obstruction and long-term outcomes are scarcely reported. This study aims to provide an overview of outcomes after surgical repair for congenital SVAS.
METHODS: A systematic review of published literature was conducted, including observational studies reporting long-term clinical outcome (>2 years) after SVAS repair in children or adults considering >20 patients. Early risks, late event rates and time-to-event data were pooled and entered into a microsimulation model to estimate 30-year outcomes. Life expectancy was compared to the age-, sex- and origin-matched general population.
RESULTS: Twenty-three publications were included, encompassing a total of 1472 patients (13 125 patient-years; pooled mean follow-up: 9.0 (6.2) years; median follow-up: 6.3 years). Pooled mean age at surgical repair was 4.7 (5.8) years and the most commonly used surgical technique was the single-patch repair (43.6%). Pooled early mortality was 4.2% (95% confidence interval: 3.2-5.5%) and late mortality was 0.61% (95% CI: 0.45-0.83) per patient-year. Based on microsimulation, over a 30-year time horizon, it was estimated that an average patient with SVAS repair (mean age: 4.7 years) had an observed life expectancy that was 90.7% (95% credible interval: 90.0-91.6%) of expected life expectancy in the matched general population. The microsimulation-based 30-year risk of myocardial infarction was 8.1% (95% credible interval: 7.3-9.9%) and reintervention 31.3% (95% credible interval: 29.6-33.4%), of which 27.2% (95% credible interval: 25.8-29.1) due to repair dysfunction.
CONCLUSIONS: After surgical repair for SVAS, 30-year survival is lower than the matched-general-population survival and the lifetime risk of reintervention is considerable. Therefore, lifelong monitoring of the cardiovascular system and in particular residual stenosis and coronary obstruction is recommended.

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Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and even circulatory failure. Familial autosomal dominant SVAS is frequently associated with elastin (ELN) gene mutations, whereas Williams-Beuren syndrome is a complex developmental disorder caused by heterozygous microdeletions of 26-28 genes at 7q11.23, including ELN. Methods: Whole-exome sequencing was performed in 42 individuals from 11 Chinese families with SVAS to identify the pathogenic gene mutations involved. Aortic tissue was obtained for histological analyses, and quantitative reverse-transcription-PCR and western blotting were used to verify the expression of elastin molecules. Results: Five point mutations and six frameshift mutations in the ELN gene were detected in the peripheral blood of all investigated families. Nine were nonsense mutations that result in premature stop codons, and the other two were missense mutations. All variants were heterozygous. Nine of the variants were novel, and have not been included in databases or previously reported. One mutation occurred in individuals from two different families. Reduced elastin protein expression was evident in patients\' aortic tissue. Conclusions: The novel mutations of ELN were found to be pathogenic, which confirmed by reduced elastin expression and leads to SVAS. Thus, detailed cardiac testing and genetic counseling are warranted for patients and asymptomatic individuals with these mutations.

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Supravalvular aortic stenosis (SVAS) is an aortic malformation characterized by a narrowing of the ascending aorta, resulting in abnormal hemodynamics and pressure drop across the stenosed region. It has been observed that the pressure drops measured from Doppler ultrasound exams often tend to be higher than those obtained from invasive cardiac catheterization. These misleadingly elevated pressure measurements may drive the decision to refer patients for surgical treatment prematurely. Considering this strong clinical association, the purpose of this work is to develop a computational modeling approach using a two-way coupled fluid-structure interaction methodology to determine an accurate prediction of trans-stenotic pressure drop and to further highlight the discrepancy between the SVAS assessment methods. Blood is modeled using Navier-Stokes equations while the aortic wall is simulated by a composite poroelastic structure to represent the three main layers of the arterial wall. The relationship between aortic wall elasticity and the blood flow conditions is examined in varying levels of stenosis, ranging from mild to severe degrees of vessel diameter narrowing. A substantial overestimation of the traditional Doppler pressure drop measurement is observed, especially for severe stenosis levels. The simulation results indicate that elasticity of the aortic wall has a relatively little effect on trans-stenotic pressure drop for the range of mild to moderate SVAS cases, but predicted to have a profound effect for severe SVAS cases. Moreover, significant sensitivity to the pressure drop across the SVAS region from stenosis severity is observed.

We compared differences in the hemodynamic parameters of multiple surgical techniques for supravalvular aortic stenosis (SVAS). A three-dimensional model was reconstructed based on a patient\'s CT scan. Virtual McGoon, Doty, and Brom repairs were completed using computer-aided design (CAD). Hemodynamic parameters were calculated through computational fluid dynamics (CFD). The velocity profile and wall shear stress (WSS) showed the blood flow pattern. Energy loss (EL) and energy efficiency (EE) were calculated to estimate the cardiac workload. The perioperative blood flow ratio (BFR) of brachiocephalic vessels and coronary arteries was calculated. The preoperative flow velocity was abnormally high (> 5.0 m/s). High WSS was detected at the sinotubular junction (STJ), and its preoperative distribution in the aorta was uneven. High-speed flow disappeared after each of the three operations. The WSS distribution at the aortic root was consistent with the postoperative STJ structure of each operation. EL in the systolic phase decreased postoperatively (Original: 634 mW, McGoon: 218 mW, Doty: 278 mW, Brom: 255 mW). No significant difference in brachiocephalic BFR was detected among the different techniques. A slightly increased coronary BFR (Original: 7.56%, McGoon: 7.99%, Doty: 8.55%, Brom: 8.89%) was detected. McGoon, Doty, and Brom repair each effectively restored stable blood flow and greatly improved EE. The best WSS distribution and coronary blood supply were achieved after Brom repair due to its ability to reconstruct the symmetrical aortic root structure. CFD combined with a virtual operation is a promising method in surgical planning and optimization for SVAS.