Supravalvular aortic stenosis: elastin arteriopathy
- PMID: 23250899
- DOI: 10.1161/CIRCGENETICS.112.962860
Supravalvular aortic stenosis: elastin arteriopathy
Abstract
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.
Similar articles
-
Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.Pediatr Cardiol. 2024 Jun;45(5):1154-1156. doi: 10.1007/s00246-024-03418-8. Epub 2024 Jan 31. Pediatr Cardiol. 2024. PMID: 38294523
-
Congenital supravalvar aortic stenosis: a simple lesion?Eur J Cardiothorac Surg. 2001 Feb;19(2):195-202. doi: 10.1016/s1010-7940(00)00647-3. Eur J Cardiothorac Surg. 2001. PMID: 11167112 Review.
-
Elastin mutation screening in a group of patients affected by vascular abnormalities.Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. doi: 10.1007/s00246-005-0885-8. Pediatr Cardiol. 2005. PMID: 15990952
-
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.Methods Mol Med. 2006;126:129-56. doi: 10.1385/1-59745-088-X:129. Methods Mol Med. 2006. PMID: 16930010
-
Genetic aspects of supravalvular aortic stenosis.Curr Opin Cardiol. 1998 May;13(3):214-9. Curr Opin Cardiol. 1998. PMID: 9649945 Review.
Cited by
-
Elastin, arterial mechanics, and stenosis.Am J Physiol Cell Physiol. 2022 May 1;322(5):C875-C886. doi: 10.1152/ajpcell.00448.2021. Epub 2022 Feb 23. Am J Physiol Cell Physiol. 2022. PMID: 35196168 Free PMC article. Review.
-
Passive biaxial mechanical behavior of newborn mouse aorta with and without elastin.J Mech Behav Biomed Mater. 2022 Feb;126:105021. doi: 10.1016/j.jmbbm.2021.105021. Epub 2021 Nov 29. J Mech Behav Biomed Mater. 2022. PMID: 34864571 Free PMC article.
-
Clinical and genetic characteristics of two cases with Williams-Beuren syndrome.Transl Pediatr. 2021 Jun;10(6):1743-1747. doi: 10.21037/tp-21-161. Transl Pediatr. 2021. PMID: 34295790 Free PMC article.
-
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.Circ Genom Precis Med. 2020 Dec;13(6):e002971. doi: 10.1161/CIRCGEN.120.002971. Epub 2020 Sep 22. Circ Genom Precis Med. 2020. PMID: 32960096 Free PMC article.
-
Cardiovascular Disease May Be Triggered by Gut Microbiota, Microbial Metabolites, Gut Wall Reactions, and Inflammation.Int J Mol Sci. 2024 Oct 2;25(19):10634. doi: 10.3390/ijms251910634. Int J Mol Sci. 2024. PMID: 39408963 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
