Knowra Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy is a disease in which the heart muscle thickens abnormally, often without another condition explaining the thickening. It can impair filling, obstruct blood flow, or cause arrhythmias.
Sarcomere : A sarcomere is the repeating contractile unit of muscle, built from interacting proteins including actin and myosin. Many inherited forms begin with variants in proteins that assemble or regulate cardiac sarcomeres.
MYH7 : A gene encoding the beta-myosin heavy chain, a motor protein in cardiac muscle. Variants in MYH7 are among the established genetic causes of hypertrophic cardiomyopathy.
Echocardiography : Ultrasound imaging used to assess the heart’s structure, motion, and blood flow. It is a central test for measuring wall thickness and detecting outflow obstruction.
Athlete's heart : A set of structural and functional heart adaptations associated with sustained athletic training. Training-related thickening is a physiologic adaptation, unlike disease-causing hypertrophy.
Sudden cardiac death : An unexpected death caused by abrupt loss of heart function, commonly following a fatal arrhythmia. Ventricular arrhythmias make sudden death a serious, though uncommon, complication.
Left ventricular outflow tract obstruction : A narrowing that impedes blood leaving the left ventricle through the aortic valve. Septal thickening and mitral valve motion can obstruct this route during contraction.
MYBPC3 : A gene encoding cardiac myosin-binding protein C, which helps regulate muscle contraction. Pathogenic MYBPC3 variants are a frequent cause of inherited disease.
Genetic testing : Analysis of DNA to identify variants associated with inherited conditions. Testing can clarify familial risk and guide screening of relatives when a disease-causing variant is found.
Hypertensive heart disease : Changes in heart structure and function caused by chronic high blood pressure. Long-standing hypertension can thicken the left ventricle and must be distinguished from inherited disease.
Atrial fibrillation : A rapid, irregular rhythm arising from disorganized electrical activity in the atria. It occurs in some affected people and can worsen symptoms or increase stroke risk.
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