Valve diseases have a large share in the total morbidity and mortality of the adult population, and can be congenital or acquired. The last few decades have seen a predominance of degenerative (calcified) heart valve diseases due to a prolonged life expectancy in economically developed countries. The therapeutic approach has remained unchanged and in the case of severe dysfunction, the valve is replaced with a mechanical or biological prosthesis, balloon valvuloplasty or valve reconstruction. The findings in understanding the development of heart valves along with human genome sequencing have led to the discovery of a genetic basis in valvular diseases (1). Also, there are numerous evidence to suggest that heart valve diseases which develop in adulthood has its source in embryonic development. In this review authors will display the genetic basis of the two most common inherited valvular diseases: bicuspid aortic valve and mitral valve prolapse, as well as a review of the findings suggesting a genetic contribution to calcified aortic valve disease (2). In addition, this review will include a review of the guidelines and benefits of genetic testing, as well as highlight the need to include genetic counseling in families with proven or suspected malformations. Linking genetic information to the clinical phenotype (Table 1) and potential outcomes of surgical treatment leads to a personalized approach to each patient (3).
Copyright: 2021, Croatian Cardiac Society
Date received: 09 July 2021
Date accepted: 05 August 2021
Publication date (print and electronic): September 2021
Volume: 16
Issue: 9-10
Page: 307
Publisher ID: CC 2021 16_9-10_307
DOI: 10.15836/ccar2021.307