About: familial dilated cardiomyopathy

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
exact match	wds:Q56013812-A41DFC08-DD09-4591-8E63-69F410B124B3
exact match	http://www.orpha.net/ORDO/Orphanet_217607
Mondo ID	wds:Q56013812-FA22CB41-61DD-416D-8FF7-A9B4D83740C4
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0016333
Mondo ID	MONDO_0016333
rdfs:label	cardiomyopathie dilatée familiale (fr) familial dilated cardiomyopathy (en)
skos:prefLabel	cardiomyopathie dilatée familiale (fr) familial dilated cardiomyopathy (en)
name	cardiomyopathie dilatée familiale (fr) familial dilated cardiomyopathy (en)
instance of	wds:Q56013812-061227DE-FDA9-465C-8567-6167FE45AC9D
instance of	class of disease
subclass of	wds:Q56013812-2d0e32f4-42cc-cb1d-3a92-67fb5e4b9a81 wds:Q56013812-6ef7cafc-44c8-0720-46f7-8435203df0f4
subclass of	dilated cardiomyopathy familial cardiomyopathy
Orphanet ID	wds:Q56013812-5811F74B-A0A4-41DB-B36F-2D4C2BF2016A
ICD-10-CM	wds:Q56013812-B2E12D34-7A9D-4969-8954-741451D2D40A
Orphanet ID	217607
ICD-10-CM	I42.0
skos:altLabel	hereditary dilated cardiomyopathy (en)
UMLS CUI	wds:Q56013812-D660E21C-D352-4156-9069-F5F3C138A874
MeSH descriptor ID	wds:Q56013812-AED771DC-067A-4790-BE93-C2D103992FD1
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536231
UMLS CUI	C0340427
MeSH descriptor ID	C536231
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56013812
is subclass of of	familial isolated dilated cardiomyopathy
is subclass of of	wds:Q56013726-C723BED6-9ECA-429E-BC94-D83D42375947
is main subject of	Familial dilated cardiomyopathy and spontaneous ventricular arrhythmias Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy Familial dilated cardiomyopathy locus maps to chromosome 2q31. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. Familial dilated cardiomyopathy in the United Kingdom Familial dilated cardiomyopathy: clinical features in French families. The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy Portuguese study of familial dilated cardiomyopathy: the FATIMA study Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy Familial dilated cardiomyopathy secondary to dystrophin splice site mutation Guidelines for the diagnosis and management of familial dilated cardiomyopathy Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del A novel titin mutation in adult-onset familial dilated cardiomyopathy Clinical and pathologic study of familial dilated cardiomyopathy Familial dilated cardiomyopathy of young Portuguese water dogs Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data Familial dilated cardiomyopathy: Current challenges and future directions Familial dilated cardiomyopathy: assessment of left ventricular systolic and diastolic function using Doppler tissue imaging in asymptomatic relatives with left ventricular enlargement. Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Lamin A/C deficiency as a cause of familial dilated cardiomyopathy Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments. Mitogenic cardiomyopathy: a lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation. Dkk3 prevents familial dilated cardiomyopathy development through Wnt pathway Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. Return of genetic results in the familial dilated cardiomyopathy research project A prospective genetic evaluation of familial dilated cardiomyopathy in the Doberman pinscher. Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity. Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report. Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death A familial dilated cardiomyopathy associated with cataracts and hip-spine disease A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy] [Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect] Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death [Screening of pathogenic genes in a Chinese familial dilated cardiomyopathy pedigree from Inner Mongolia] Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. Disrupted mechanobiology links the molecular and cellular phenotypes in familial dilated cardiomyopathy Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity

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