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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 4330 cardiomyopathy, hypertrophic 1 Eponyms: Inheritance: ASH CMH1 MYH7 septal hypertrophy with obstruction asymmetric subaortic stenosis muscular ventricular hypertrophy hereditary autosomal dominant Semeiological Cardiovascular disorder, isolated defect. Left ventricle hypertrophy, muscular subaortic stenosis, fatigability, dyspnea, angina, arrhythmia W-P-W type. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomyopathy cardiopathy, congenital isolated cardiac structures, defects mitral valve, prolapse LABORATORY DATA chromosomal assignment chromosome 14q localization chromosome 15q localization chromosome 20q localization gene, structural-functional anomalies ACTC actin alpha cardiac muscle, gene chr.15q14 gene analysis-DNA analysis MYH6 myosin heavy polypeptide-7, cardiac muscle beta, gene chr.14q12 MYH7 (CMH1) myosin heavy polypeptide-7, cardiac muscle beta, gene chr.14q12 MYLK2 (MLCK), gene chr.20q13.3 MUSCULAR DISEASES systemic muscular defects muscular dystrophy, myopathy NEUROLOGICAL DISORDERS neurological dysfunctions sudden death OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques ISOLATED CARDIOVASCULAR ANOMALIES isolated cardiac defects LETHALITY cardiac/respiratory, defects sudden death cardiomyopathy, hypertrophic 1 Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database MUSCULAR DISORDERS muscular dystrophy, myopathy Differential diagnosis: Bibliography cardiomyopathy, hypertrophic 1 3165 4267 4320 28103 28001 28002 27922 28796 4345 4310 7455 27785 10950 11760 482 Bergia syndrome cardiac lipidosis cardiomyopathy, dilated-1A cardiomyopathy, dilated-3A cardiomyopathy, hypertrohpic-2 cardiomyopathy, hypertrophic 3 cardiomyopathy, hypertrophic 4 cardiomyopathy, hypertrophic 5,7,8 cardiomyopathy, restrictive cardiomyopathy-cataract syndrome desmin defect foetal verapamil effects glycogenosis IIa Hauptmann-Thannhauser syndrome hypertrophic cardiomyopathy, MTTG mutation 24623 subaortic stenosis membranous OMIM ID: 192600 OMIM ID: 160760 OMIM ID: 102540 OMIM ID: 160710 OMIM ID: 606566 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.158 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.11611172,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.12451251,2007 Page 2 of 2
