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Dilated cardiomyopathy 1AA(CMD1AA)

MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Synonyms: ACTN2-Related Dilated Cardiomyopathy; CMD1AA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: ACTN2
Cytogenetic location: 1q43
OMIM®: 612158

Disease characteristics

Excerpted from the GeneReview: Dilated Cardiomyopathy Overview
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke . [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy to Identify or Confirm FDC  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Ray E Hershberger  |  Ana Morales   view full author information

Clinical features

Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Endocardial fibroelastosis
MedGen UID:
504922
Concept ID:
CN001551
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Prognosis

Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A
Structure 2004 Apr;12(4):611-22. doi: 10.1016/j.str.2004.02.019. PMID: 15062084

Clinical prediction guides

Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A
Structure 2004 Apr;12(4):611-22. doi: 10.1016/j.str.2004.02.019. PMID: 15062084

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