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Dilated cardiomyopathy 1R(CMD1R)

MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
Synonyms: ACTC1-Related Dilated Cardiomyopathy; Cardiomyopathy, dilated, 1R; CMD1R
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 (location): ACTC1 (15q14)
OMIM®: 613424

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

Left ventricular hypertrophy
MedGen UID:
336835
Concept ID:
C1845018
Finding
Ventricular arrhythmia
MedGen UID:
408101
Concept ID:
C1883529
Finding
Restrictive cardiomyopathy
MedGen UID:
368785
Concept ID:
C1963079
Finding
Restrictive cardiomyopathy resulting from a known treatment.
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Therapy

Grieve DJ, Cassidy RS, Green BD
Br J Pharmacol 2009 Aug;157(8):1340-51. doi: 10.1111/j.1476-5381.2009.00376.x. PMID: 19681866Free PMC Article

Clinical prediction guides

Liesmaa I, Kuoppala A, Shiota N, Kokkonen JO, Kostner K, Mäyränpää M, Kovanen PT, Lindstedt KA
Am J Physiol Heart Circ Physiol 2005 May;288(5):H2317-22. doi: 10.1152/ajpheart.00815.2004. PMID: 15840906

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