Familial hypertrophic cardiomyopathy
[DOC File]1. Coronary angioplasty
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Echocardiography studies have confirmed that about one-third of the first-degree relatives (i.e., parents, siblings, and children) of patients with familial hypertrophic cardiomyopathy have evidence of the disease, although in many of these patients the extent of hypertrophy is mild, no outflow tract pressure gradient is present, and symptoms ...
[DOCX File]EXPLANATORY NOTES FOR TABLING - Repatriation Medical …
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cardiomyopathy, and Instrument No. 36 of 2007 determined under subsection 196B(3) of the VEA concerning . familial hypertrophic cardiomyopathy. The Authority is of the view that on the sound medical-scientific evidence available it is more probable than not that . cardiomyopathy. and . familial hypertrophic cardiomyopathy . and. death from ...
[DOC File]HL7 Family History IG US Realm
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This storyboard illustrates the use of family history as part of confirmatory diagnosis of X-linked Dialated Cardiomyopathy (DCM) or DMD Associated Dilated Cardiomyopathy, which is caused by a mutation in the DMD gene that codes for the dystrophin protein.
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Online Table 1. Search terms for systematic review per database with amount of corresponding hits. Database Hits Search term Embase.com 1052 ('hypertrophic cardiomyopathy'/de OR 'familial hypertrophic cardiomyopathy'/de OR 'hypertrophic obstructive cardiomyopathy'/de OR (((hypertroph* OR obstruct*) NEAR/3 (cardiomyopath* OR 'subaortic stenosis' OR Asymmetric*)) OR …
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familial hypertrophic cardiomyopathy. means a genetic disease of cardiac muscle caused by a variety of mutations in genes encoding sarcomeric proteins. It is characterised by left ventricular hypertrophy and diastolic dysfunction, and may cause obstruction to left ventricular outflow and symptoms and signs of …
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The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) recommends genetic testing in patients fulfilling diagnostic criteria for HCM, including to enable genetic testing of at-risk relatives, by a certified diagnostic laboratory with expertise in the interpretation of ...
[DOCX File]PART 1 – APPLICANT DETAILS - Department of Health
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Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology (Cardoso et al 2017) Outcome of clinical screening and genetic testing of child probands and relatives (
[DOC File]CARDIOMYOPATHY
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A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 1995; 91:2911–2915. Pfeufer A, Osterziel KJ, Urata H, et al. Angiotensin converting enzyme and heart chymase gene polymorphisms in hypertrophic cardiomyopathy.
[DOC File]CARDIOVASCULAR MCQ
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35. Familial hypertrophic cardiomyopathy (HOCM) is a disorder largely affecting cardiac myocytes. It is characterised by unexplained ventricular hypertrophy and histological evidence of myofibrillar disarray. With respect to the molecular genetic basis of HOCM, which of the following statements is true?
[DOC File]Clinical Genetics and Sudden Cardiac Death
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In these age groups, deaths due to cardiomyopathies (including arrhythmogenic, dilated, hypertrophic and restrictive) are the leading cause of SCD.1,3 Of the cardiomyopathies, hypertrophic cardiomyopathy (HCM) is the form most notorious for causing SCD, often in young, otherwise healthy, athletes.3 While HCM is a well-known clinicopathologic ...
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