Dysplastic Mitral Valve in Costello Syndrome

Autor: Tamara Naneishvili, MBBS, Mengshi Yuan, MBBS, Mohamed Mansour, MBBS, William E. Moody, PhD, Richard P. Steeds, MA, MD
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: JACC: Case Reports, Vol 29, Iss 14, Pp 102408- (2024)
Druh dokumentu: article
ISSN: 2666-0849
DOI: 10.1016/j.jaccas.2024.102408
Popis: Costello syndrome is an autosomal dominant condition caused by variants in the HRAS gene. Cardiac presentation includes valvular disease (usually valvar pulmonary stenosis), arrhythmias, and hypertrophic cardiomyopathy. To our knowledge, this is the first such report of dysplastic mitral valve associated with Costello syndrome.
Databáze: Directory of Open Access Journals