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Dilated cardiomyopathy 1G(CMD1G)

MedGen UID:
347714
Concept ID:
C1858763
Disease or Syndrome
Synonyms: CMD1G; TTN-Related Dilated Cardiomyopathy
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): TTN (2q31.2)
OMIM®: 604145

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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Tang LJ, Chen XF, Zhu M, Jiang JJ, Lu XB, Du YX, Wang B, Fang CF, Xue YS, Shen WF
Clin Biochem 2007 Dec;40(18):1427-30. Epub 2007 Oct 3 doi: 10.1016/j.clinbiochem.2007.09.013. PMID: 18028894

Diagnosis

Chen J, Hong D, Wang Z, Yuan Y
Clin Neuropathol 2010 Nov-Dec;29(6):351-6. PMID: 21073837
Deharo JC, Peyre JP, Ritter PH, Chalvidan T, Berland Y, Djiane P
Pacing Clin Electrophysiol 1998 Jan;21(1 Pt 2):223-6. PMID: 9474676

Clinical prediction guides

Deharo JC, Peyre JP, Ritter PH, Chalvidan T, Berland Y, Djiane P
Pacing Clin Electrophysiol 1998 Jan;21(1 Pt 2):223-6. PMID: 9474676

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