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Copyright V. Ventruto / A. Di Luccio Genus database 4320 cardiomyopathy, dilated-1A Eponyms: Inheritance: cardiomyopathy idiopathic CDCD1 CMD1A CMPD1A congestive cardiomyopathy familial autosomal dominant supposed genetic heterogeneity Semeiological Cardiovascular disorder, isolated defect. Cardiac arrhythmias, ventricular fibrillation, congestive heart failure, conduction defect, sudden death, great variability of age of onset. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects atrial septal, defect cardiomegaly cardiomyopathy cardiopathy, congenital heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias isolated cardiac structures, defects mitochondrial cardiomyopathy LABORATORY DATA chromosomal assignment chromosome 14q localization chromosome 15q localization chromosome 1q localization gene, structural-functional anomalies ACTC actin alpha cardiac muscle, gene chr.15q14 CDCD1 (CMD1A) (HGPS) (FPLD) (EMD2) (LMN1) (LMNA) cardiomyopathy dilated 1A, autosomal dominant, gene chr.1q21.2 CMT2B1, gene chr.1q21.2-q21.3 gene analysis-DNA analysis MYH7 (CMH1) myosin heavy polypeptide-7, cardiac muscle beta, gene chr.14q12 tissue, biochemical changes mitochondrial defects MUSCULAR DISEASES systemic muscular defects muscular dystrophy, myopathy NEUROLOGICAL DISORDERS neurological dysfunctions axonal neuropathy demyelinating neuropathy sudden death OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data Super group: cardiomyopathy, dilated-1A Page 1 of 3 Copyright V. Ventruto / A. Di Luccio Genus database Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: ISOLATED CARDIOVASCULAR ANOMALIES isolated cardiac defects LETHALITY cardiac/respiratory, defects sudden death MITOCHONDRIAL DISORDERS mitochondrial myopathies, cardiomyopathies, encephalomyopathies MUSCULAR DISORDERS muscular dystrophy, myopathy OTHER axonal neuropathy demyelinating neuropathy Differential diagnosis: 1480 2490 3165 14 4267 4300 28008 7121 4321 28705 4325 27999 28200 28685 4328 28009 28005 28006 28103 10100 4330 4345 4310 4340 4350 27475 29004 8600 9680 9681 10955 10960 10970 11020 11026 11045 11047 10980 10990 11000 11760 13600 14630 17290 9114 Bibliography cardiomyopathy, dilated-1A amyloid neuropathy III ataxia-deafness-cardiomyopathy syndrome Bergia syndrome Brugada syndrome cardiac lipidosis cardiogenital syndrome cardiomyopathy, 1E, dilated-2 with conduction defect cardiomyopathy, dilated 1H, 1J, 1, 1L, 1N cardiomyopathy, dilated Goldblatt type cardiomyopathy, dilated mitochondrial cardiomyopathy, dilated right ventricular-1 cardiomyopathy, dilated right ventricular-2 cardiomyopathy, dilated right ventricular-3 cardiomyopathy, dilated right ventricular4,5,6 cardiomyopathy, dilated X-linked cardiomyopathy, dilated-1B cardiomyopathy, dilated-2, 1D cardiomyopathy, dilated-3 cardiomyopathy, dilated-3A cardiomyopathy, Fried type cardiomyopathy, hypertrophic 1 cardiomyopathy, restrictive cardiomyopathy-cataract syndrome cardiomyopathy-hypogonadism syndrome cardiomyopathy-hypogonadismcollagenoma syndrome cataract-cardiomyopathy-arthropathy Cytochrome bc1 complex, deficiency endomyocardial fibrosis of left ventricle fibroelastosis, endocardial fibroelastosis, endocardial, left ventricle glycogenosis IIb glycogenosis III glycogenosis IV glycogenosis IXA glycogenosis IXC glycogenosis limited to heart glycogenosis muscle X-linked glycogenosis V, autosomal recessive glycogenosis VI glycogenosis VII Hauptmann-Thannhauser syndrome Jennings-Hall syndrome LEOPARD syndrome muscular dystrophy, cardiac type spongy myocardium OMIM ID: 115200 Page 2 of 3 Genus database Copyright V. Ventruto / A. Di Luccio OMIM ID: 150330 OMIM ID: 605588 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.159 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.11731179,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.12511255,2007 cardiomyopathy, dilated-1A Page 3 of 3
