Interview - The complex genetic architecture of mitral valve disease

CardioGenomics Insights - Volume 7

30 Oct, 2023

Scientific

Mitral valve prolapse is a frequent disorder affecting more than 2-3 % of the adult population. Although being a sporadic disease in most cases, some patients will present with a positive familial history, a more aggressive clinical presentation including evolutive mitral valve disease, arrhythmia, annulus disjunction, systolic dysfunction (related not only to valvular disease severity but also to an associated myocardial disease), and sometimes with other clinical features like aortic aneurysms and connective tissue disorders. Deciphering the molecular heterogeneity beyond those clinical sub-groups, genetics appears to be an appropriate tool by which to identify the precise underlying condition in selected cases. This interview discusses the complex genetic architecture of mitral valve disease, and address “why, when and how” genetic testing could be considered in the clinical evaluation of mitral valve-diseased patients.

Professor Martina Perazzolo Marra

University of Padua, Padova, Italy

Doctor Francesca Delling

Massachusetts General Hospital and University of California, San Francisco, United States of America

Professor Antoine Bondue

HUB Hôpital Erasme, Université libre de Bruxelles, Belgium

References

https://academic.oup.com/eurheartj/article/43/17/1668/6542554

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.