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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 ...
Feline hypertrophic cardiomyopathy (HCM) is the most common heart disease in domestic cats; [69] [70] [71] the disease process and genetics are believed to be similar to the disease in humans. [72] In Maine Coon cats, HCM has been confirmed as an autosomal dominant inherited trait. [73] Numerous cat breeds have HCM as a problem in the breed. [74]
Clinical Implications of Beta Cardiac Myosin Heavy Chain Mutations in Hypertrophic Cardiomyopathy (University of London, 1996) Papers in scientific journals, including the New England Journal of Medicine, [5] Cell, [6] and Nature Genetics [7] [8]
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.
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Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease. [ 1 ] ACM is caused by genetic defects of parts of the cardiac muscle known as desmosomes , areas on the surface of muscle cells which link them together.
Hypertrophic cardiomyopathy affects about 1 in 500 people while dilated cardiomyopathy affects 1 in 2,500. [ 3 ] [ 10 ] They resulted in 354,000 deaths up from 294,000 in 1990. [ 7 ] [ 11 ] Arrhythmogenic right ventricular dysplasia is more common in young people.
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.
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