Genetic and personalized approach to valvular heart disease

    Authors

    Keywords

    bicuspid aortic valve, calcified aortic valve disease, genetic testing, mitral valve prolapse

    DOI

    https://doi.org/10.15836/ccar2021.307

    Full Text

    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 ).

    Cardiologia Croatica
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    Genetic and personalized approach to valvular heart disease

    Extended Abstract
    Issue9-10
    Published
    Pages307
    PDF via DOIhttps://doi.org/10.15836/ccar2021.307
    bicuspid aortic valve
    calcified aortic valve disease
    genetic testing
    mitral valve prolapse

    Authors

    Katica Cvitkušić Lukenda*ORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Domagoj VučićORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Marijana Knežević PravečekORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Krešimir GabaldoORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Domagoj MiškovićORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Blaženka MiškićORCIDGeneral Hospital dr. Josip Benčević, Slavonski Brod, Croatia
    Ana LivunORCIDUniversity Hospital Dubrava, Zagreb, Croatia

    Full Text

    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 ).