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Hypertrophic cardiomyopathy screening is an assessment and testing to detect hypertrophic cardiomyopathy (HCM). [ 1 ] [ 2 ] It is a way of identifying HCM in immediate relatives of family members diagnosed with HCM, and athletes as part of a sports medical . [ 3 ]
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 ]
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.
The most common causes of cardiomegaly are congenital (patients are born with the condition based on a genetic inheritance), high blood pressure (which can enlarge the left ventricle causing the heart muscle to weaken over time), and coronary artery disease. In the latter case, the disease creates blockages in the heart's blood supply, leading ...
Primary disease of the muscle of the heart that cause LVH are known as hypertrophic cardiomyopathies, which can lead into heart failure. [citation needed] Long-standing mitral insufficiency also leads to LVH as a compensatory mechanism. [citation needed] LV mass increases with ageing. [4] Associated genes include OGN, osteoglycin. [5]
Pulsus bisferiens, also known as biphasic pulse, is an aortic waveform with two peaks per cardiac cycle, a small one followed by a strong and broad one. [1] It is a sign of problems with the aorta, including aortic stenosis and aortic regurgitation, as well as hypertrophic cardiomyopathy causing subaortic stenosis.
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