Category: Cardiovascular Genetics

Introduction Cardiomyopathies are a diverse group of heart muscle diseases that may lead to heart failure, arrhythmias, thromboembolic complications, and sudden cardiac death. Among them, genetic cardiomyopathies—including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and arrhythmogenic cardiomyopathy (ACM)—are increasingly recognized as major contributors to cardiovascular morbidity and mortality. Historically, the treatment of cardiomyopathies…

Introduction For decades, cardiomyopathies and channelopathies were considered two distinct categories of inherited heart disease. However, advances in molecular genetics and high-throughput sequencing technologies have blurred these boundaries. Increasingly, the same gene mutation has been found to cause either a cardiomyopathy, a channelopathy, or even both, depending on genetic modifiers, environmental triggers, and disease stage.…

Introduction Cardiomyopathies represent a diverse group of myocardial disorders characterized by structural and functional abnormalities of the heart muscle. They are a leading cause of heart failure, arrhythmias, and sudden cardiac death (SCD), particularly in younger populations. Among the various factors implicated in their pathogenesis, mutations in sarcomere proteins have emerged as a central determinant,…

Introduction The human heart is a high-energy–demanding organ, contracting ~100,000 times per day and consuming enormous amounts of adenosine triphosphate (ATP) to sustain continuous pumping. Remarkably, the myocardium relies on mitochondria to produce more than 90% of its ATP via oxidative phosphorylation (OXPHOS). Any disruption in mitochondrial function can have devastating consequences for cardiac performance.…

Introduction Restrictive cardiomyopathy (RCM) is one of the rarest and least understood forms of cardiomyopathy, yet its impact on patients is often devastating. Unlike hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM), where the focus is on thickened or weakened heart muscles, restrictive cardiomyopathy primarily affects the compliance and elasticity of the ventricular walls. In other…

Introduction Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), also referred to as Arrhythmogenic Cardiomyopathy (ACM), is a rare but clinically significant inherited cardiac disorder characterized by the gradual replacement of right ventricular myocardium with fibrous and fatty tissue. This structural remodeling predisposes individuals to life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death (SCD), particularly in young…

Introduction Dilated cardiomyopathy (DCM) is one of the most common forms of cardiomyopathy, characterized by dilatation of the left ventricle (and often right ventricle) with impaired systolic function. It leads to heart failure, arrhythmias, thromboembolism, and sudden cardiac death, contributing significantly to cardiovascular morbidity and mortality worldwide. While DCM can be secondary to environmental or…

Introduction Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, affecting an estimated 1 in 200–500 individuals worldwide. Characterized by unexplained thickening of the heart muscle—most often the interventricular septum—HCM can lead to diastolic dysfunction, outflow tract obstruction, arrhythmias, and sudden cardiac death (SCD). While the clinical spectrum of HCM ranges from…

Introduction Familial Hypercholesterolemia (FH) is a genetic lipid disorder characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) from birth. Caused mainly by mutations in genes such as LDLR, APOB, and PCSK9, FH predisposes affected individuals to premature atherosclerotic cardiovascular disease (ASCVD), often decades earlier than the general population. Unlike lifestyle-induced hyperlipidemia, FH is…

Introduction Familial hypercholesterolemia (FH) is one of the most prevalent monogenic disorders, caused primarily by mutations in LDLR, APOB, and PCSK9 genes that disrupt low-density lipoprotein (LDL) clearance. This results in lifelong elevation of LDL cholesterol (LDL-C) and dramatically increases the risk of premature atherosclerotic cardiovascular disease (ASCVD), particularly coronary artery disease (CAD). From a…