Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome. The anatomic findings include congenital narrowing of the lumen of the aorta and other arteries, such as branches of pulmonary or coronary arteries. Given the systemic nature of the disease, accurate evaluation is recommended to establish the degree and extent of vascular involvement and to plan appropriate interventions, which are indicated whenever hemodynamically significant stenoses occur. ELN arteriopathy is genetically heterogeneous and occurs as a consequence of haploinsufficiency of the ELN gene on chromosome 7q11.23, owing to either microdeletion of the entire chromosomal region or ELN point mutations. Interestingly, there is a prevalence of premature termination mutations resulting in null alleles among ELN point mutations. The identification of the genetic defect in patients with supravalvular aortic stenosis is essential for a definitive diagnosis, prognosis, and genetic counseling.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1161/CIRCGENETICS.112.962860 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A clinical perspective on surgical and diagnostic strategies for neonatal partial shone complex: Insights from a case report.
Int J Surg Case Rep
December 2024
The Internist Cardiologist, Department of Cardiology, Al Watani Hospital, Hama, Syria.
Article Synopsis
- Shone complex (SC) is a rare congenital heart disease involving four obstructive lesions in the left side of the heart, making up 0.6-0.7% of CHD cases.
- A 4-week-old male neonate with SC presented severe respiratory distress and related symptoms, leading to a diagnosis that included multiple heart issues and a successful surgical intervention at five months.
- Early detection through echocardiography and multidisciplinary care is crucial for effective management and improved patient outcomes in SC cases.
Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?
BMC Pregnancy Childbirth
November 2024
The Genetics Laboratory, Longgang District maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China.
Article Synopsis
- The study aimed to analyze ultrasound findings, SNP-array results, and pregnancy outcomes in fetuses with 7q11.23 deletions and duplications during the second and third trimesters, gathering comprehensive data from a Chinese medical center over several years.
- Seven fetuses with 7q11.23 deletions and six with duplications were diagnosed, revealing significant clinical abnormalities such as intrauterine growth restriction and various cardiovascular issues; the deletions were associated with more serious ultrasound findings.
- Most pregnancies (seven deletions and three duplications) were terminated due to the severe abnormalities discovered, indicating a high risk linked to these genetic conditions.
Prognostic Effects of Operation Age for Pediatric Patients with Supravalvar Aortic Stenosis.
Rev Cardiovasc Med
October 2024
Department of Pediatric Cardiac Center, Beijing Anzhen Hospital, Capital Medical University, 100029 Beijing, China.
Background: The appropriate age for surgical repair of asymptomatic congenital supravalvular aortic stenosis (SVAS) is still unknown. The purpose of this research was to assess the safety and effectiveness of various operation ages when managing SVAS.
Methods: Consecutive asymptomatic SVAS pediatric patients in the Beijing Fuwai and Yunnan Fuwai hospitals over a period of 18 years were retrospectively analyzed.
A successful surgical repair for supravalvular aortic stenosis with a bicuspid valve and malpositioned coronary orifices by partial Brom's technique: a case report.
Surg Case Rep
October 2024
Department of Surgery II, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo-city, Yamanashi, 409-3898, Japan.
Background: Supravalvular aortic stenosis (SVAS) is a relatively rare form of left ventricular outflow tract obstruction, often accompanied by other cardiac conditions. However, a standard surgical reparative technique has not been established and repairing SVAS remains challenging.
Case Presentation: We repaired SVAS of a 3-year-old boy accompanied by a bicuspid aortic valve and malpositioned coronary orifices by partial Brom's technique with two glutaraldehyde-treated autologous pericardial patches, using recent advanced preoperative information, including geometric and effective heights.
Characteristics of altered biventricular hemodynamics after arterial switch operation for patients with d-transposition of the great arteries with preserved ejection fraction: a four-dimensional (4D) flow cardiovascular magnetic resonance (CMR) study.
Quant Imaging Med Surg
October 2024
Department of Radiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: The long-term monitoring of biventricular function is essential to identify potential functional decline in patients following the arterial switch operation (ASO). The underlying pathophysiological mechanisms responsible for altered biventricular hemodynamics in ASO patients are not yet well understood. This study sought to: (I) compare the biventricular kinetic energy (KE) and vorticity of ASO patients and age- and sex-matched controls; (II) investigate the associations of four-dimensional (4D) flow biventricular hemodynamics parameters and neo-aortic root dilation, supravalvular pulmonary stenosis, and pulmonary artery transvalvular pressure difference.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!