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Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which muscle tissues of the heart become thickened without an obvious cause. [8] The parts of the heart most commonly affected are the interventricular septum and the ventricles . [ 10 ]
People with genetic forms of the condition—meaning those who have inherited one or more of the genetic mutations associated with hypertrophic cardiomyopathy—may have more severe and aggressive ...
Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene are a rare genetic cause of hypertrophic cardiomyopathy. A recent study has indicated that a frameshift mutation (c ...
Hypertrophic cardiomyopathy (HCM) is a condition where some of the heart muscle becomes too thick, (a.k.a., hypertrophied, a typical diagnostic criterion is a 15 millimeters or greater left ...
Cardiac muscle troponin T (cTnT) is a protein that in humans is encoded by the TNNT2 gene. [5] [6] Cardiac TnT is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration.
Hypertrophic cardiomyopathy: 26% Genetically determined Commotio cordis: 20% Structurally normal heart, disrupted electrically by a blow to the chest Coronary artery anomalies: 14% Exact mechanisms unknown; some association with other congenital CVS abnormalities Left ventricular hypertrophy of undetermined origin 7%
Subsequent studies have also found additional mutations in MYH6 linked to both hypertrophic cardiomyopathy and dilated cardiomyopathy. [17] Mutations in MYH6 cause atrial septal defect. [18] One underlying mutation is a missense substitution at Ile820Asn, which alters the association of alpha-myosin heavy chain with regulatory light chain.
Cardiomyopathy is often absent in childhood. Some women will develop this in adulthood. Cardiomyopathy can be associated with atrial fibrillation and embolic strokes. Cardiac conduction abnormalities can occur. Wolff–Parkinson–White syndrome is a common conduction pattern in Danon disease. Symptoms in females progress more slowly than in males.
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