GENETICS OF MYXOMATOUS MITRAL VALVE DISEASE: A SHORT REVIEW

Abstract

Myxomatous mitral valve disease (MMVD) is the most common cause of primary mitral regurgitation in developed countries and represents the main pathological substrate of mitral valve prolapse. Although traditionally considered an age-related degenerative condition, increasing evidence demonstrates that MMVD has a significant genetic component involving both rare pathogenic variants and common susceptibility alleles. Familial studies, linkage analyses, and genome wide association studies have identified genetic abnormalities involved in valve development, extracellular matrix regulation and cytoskeletal organization. Understanding the genetic basis of MMVD has improved knowledge of disease mechanisms and may facilitate earlier diagnosis, family screening, risk stratification, and the development of future targeted therapies. Further integration of genomic, molecular, and clinical data will be essential for advancing precision medicine approaches in patients with myxomatous mitral valve disease.