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Dilated cardiomyopathy 1O(CMD1O)

MedGen UID:
325268
Concept ID:
C1837839
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; CMD1O
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ABCC9 (12p12.1)
OMIM®: 608569

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 nocturnal 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

Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
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 nocturnal 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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation).
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

Diagnosis

Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

Prognosis

Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

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