Dysplastic Mitral Valve in Costello Syndrome

Tamara Naneishvili; Mengshi Yuan; Mohamed Mansour; William E Moody; Richard P Steeds

doi:10.1016/j.jaccas.2024.102408

Dysplastic Mitral Valve in Costello Syndrome

JACC Case Rep. 2024 Jun 19;29(14):102408. doi: 10.1016/j.jaccas.2024.102408. eCollection 2024 Jul 17.

Authors

Tamara Naneishvili¹, Mengshi Yuan¹, Mohamed Mansour¹, William E Moody^{1

2}, Richard P Steeds^{1

2}

Affiliations

¹ Department of Cardiology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, United Kingdom.
² Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

Abstract

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.

Keywords: Costello syndrome; mitral valve malformation.