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Dilated cardiomyopathy 1X(CMD1X)

MedGen UID:
370583
Concept ID:
C1969024
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; CMD1X; FKTN-Related Dilated Cardiomyopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FKTN (9q31.2)
OMIM®: 611615

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.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Nanjo S, Yoshikawa K, Harada M, Inoue Y, Namiki A, Nakano H, Yamazaki J
Circ J 2009 Oct;73(10):1939-44. Epub 2009 Sep 4 [Epub ahead of print] PMID: 19729860

Therapy

Nanjo S, Yoshikawa K, Harada M, Inoue Y, Namiki A, Nakano H, Yamazaki J
Circ J 2009 Oct;73(10):1939-44. Epub 2009 Sep 4 [Epub ahead of print] PMID: 19729860

Prognosis

Nanjo S, Yoshikawa K, Harada M, Inoue Y, Namiki A, Nakano H, Yamazaki J
Circ J 2009 Oct;73(10):1939-44. Epub 2009 Sep 4 [Epub ahead of print] PMID: 19729860

Clinical prediction guides

Nanjo S, Yoshikawa K, Harada M, Inoue Y, Namiki A, Nakano H, Yamazaki J
Circ J 2009 Oct;73(10):1939-44. Epub 2009 Sep 4 [Epub ahead of print] PMID: 19729860
Chung N, Nishimura RA, Holmes DR Jr, Tajik AJ
J Am Soc Echocardiogr 1992 Mar-Apr;5(2):147-52. PMID: 1571168

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