Cardiovascular

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  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibrofatty infiltration of the right ventricle. ARVC is a genetically determined heart muscle disease that extends across the entire heart. ARVC accounts for nearly 20% of sudden cardiac death (SCD) cases, being a prominent cause of SCD among young athletes.

  • Hypertrophic cardiomyopathy (HCM), the most common of the genetic cardiovascular diseases, is characterized by heterogeneous clinical expression, unique pathophysiology and a diverse clinical course. Sudden cardiac death, progressive heart failure, atrial fibrillation and stroke are leading causes of the morbidity and mortality associated with HCM.

  • Dilated cardiomyopathy (DCM) is considered to be the “final common pathway” of numerous types of cardiac injuries. It is classified as a mixed cardiomyopathy due to the occurrence of both genetic and non-genetic factors in DCM. DCM, a common and largely irreversible form of heart disease, is the most frequent cause of heart transplantation and the third most common cause of heart failure.

  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly lethal arrhythmogenic cardiac disorder characterized by ventricular tachycardia in the absence of structural abnormalities of the heart. The mortality rate for untreated patients is 30% to 50% before 35 years of age.

  • Brugada Syndrome (BrS) is an arrhythmogenic disease characterized by ST-segment elevation on ECG, incomplete right bundle-branch block, and increased risk of sudden cardiac death as the result of ventricular fibrillation. BrS is responsible for 4% of all sudden deaths and 20% of sudden deaths among patients with structurally normal hearts.

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