X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene

Kardiol Pol. 2023;81(3):306-307. doi: 10.33963/KP.a2023.0017. Epub 2023 Jan 14.

Authors

Agnieszka Madej-Pilarczyk¹, Dorota Piekutowska-Abramczuk², Beata Kucińska³, Mariusz Furmanek⁴, Anna Gwiazda⁴, Elżbieta Ciara², Krystyna H Chrzanowska², Bożena Werner³

Affiliations

¹ Department of Medical Genetics, The Children's Memorial Health Institute, Warszawa, Poland. a.madej-pilarczyk@ipczd.pl.
² Department of Medical Genetics, The Children's Memorial Health Institute, Warszawa, Poland.
³ Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warszawa, Poland.
⁴ Department of Pediatric Radiology, Medical University of Warsaw, Warszawa, Poland.

PMID: 36640296
DOI: 10.33963/KP.a2023.0017

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Filamins / genetics
Genetic Diseases, X-Linked* / genetics
Heart Defects, Congenital*
Humans
Mitral Valve Prolapse*
Mutation

Substances

FLNA protein, human
Filamins

Supplementary concepts

Cardiac valvular dysplasia, X-linked