Genetic insights and clinical implication of inherited hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy is one of the most common inherited genetic diseases of myocardium. It is the leading cause of unexpected mortality among young people and athletes. H.C.M. has been regarded as a sarcomere illness for the past few decades, usually with incomplete penetrance and varied expressivity arising from autosomal dominance. For the purpose of risk and treatment stratification, all diagnostic techniques—such as tissue biopsy, genetic counselling, magnetic resonance imaging, transthoracic and transoesophageal echocardiography, heart catheterization, and genetic counselling—must be used. Additionally, each patient's results should be customized based on their genotype and phenotype. About one-third of people have left ventricular outflow tract blockage at rest, and another third may be prompted to develop it. Interstitial fibrosis and myocyte hypertrophy and disarray are among the histological characteristics of H.C.M. Another common complication of the hypertrophy is left ventricular diastolic dysfunction. The pathogenesis of H.C.M is complex, and its clinical profile is variable. Functional disability resulting from heart failure and stroke (induced by atrial fibrillation) is also attributed to H.C.M. The goal of the current treatments for H.C.M., which include medication, myectomy, alcohol septal ablation, and implanted cardiac defibrillators (I.C.Ds) to avoid SCD, is to slow down the disease's progression and relieve symptoms. Multidisciplinary approaches are best suited for the diagnosis and treatment of patients with H.C.M. More individualized care and better results for this patient population have been made possible by this, as well as the enhanced safety and effectiveness of medicinal, percutaneous, and surgical therapy for H.C.M. In this review the molecular pathophysiology of H.C.M will be reviewed in light of current knowledge. In addition, describing how genetic testing is used for diagnosis and outlining the range of clinical manifestations.