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Dilated cardiomyopathy 1C(CMD1C)

MedGen UID:
316944
Concept ID:
C1832244
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 1C, WITH LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Cardiomyopathy, dilated, with left ventricular noncompaction; CMD1C; LDB3-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)
 
OMIM®: 601493

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

Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes. -Blood and fluid to back up into the lungs. -The buildup of fluid in the feet, ankles and legs - called edema. -Tiredness and shortness of breath. Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C
Lab Invest 2008 Mar;88(3):275-83. Epub 2008 Feb 4 doi: 10.1038/labinvest.3700713. PMID: 18253147
Li H, Riedel R, Oldemeyer JB, Rovang K, Hee T
Am J Cardiol 2004 Jan 1;93(1):45-8. PMID: 14697464

Therapy

Li H, Riedel R, Oldemeyer JB, Rovang K, Hee T
Am J Cardiol 2004 Jan 1;93(1):45-8. PMID: 14697464

Clinical prediction guides

Pankonien I, Alvarez JL, Doller A, Köhncke C, Rotte D, Regitz-Zagrosek V, Morano I, Haase H
J Muscle Res Cell Motil 2011 Dec;32(4-5):281-90. Epub 2011 Oct 29 doi: 10.1007/s10974-011-9269-2. PMID: 22038483
Asemu G, Fishbein K, Lao QZ, Ravindran A, Herbert R, Canuto HC, Spencer RG, Soldatov NM
Channels (Austin) 2011 Mar-Apr;5(2):138-47. Epub 2011 Mar 1 PMID: 21224729Free PMC Article

Recent systematic reviews

Finsterer J, Ramaciotti C, Wang CH, Wahbi K, Rosenthal D, Duboc D, Melacini P
Pediatrics 2010 Sep;126(3):538-45. Epub 2010 Aug 2 doi: 10.1542/peds.2010-0208. PMID: 20679303

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