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Dilated cardiomyopathy 1K(CMD1K)

MedGen UID:
381354
Concept ID:
C1854159
Disease or Syndrome
Synonym: CMD1K
 
Monarch Initiative: MONDO:0011567
OMIM®: 605582

Definition

A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. [from MONDO]

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
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.
Gallop rhythm
MedGen UID:
534350
Concept ID:
C0232200
Finding
In the normal heart cycle, two heart sounds can be heard by auscultation per cycle

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Therapy

Schmidt C, Wiedmann F, Zhou XB, Heijman J, Voigt N, Ratte A, Lang S, Kallenberger SM, Campana C, Weymann A, De Simone R, Szabo G, Ruhparwar A, Kallenbach K, Karck M, Ehrlich JR, Baczkó I, Borggrefe M, Ravens U, Dobrev D, Katus HA, Thomas D
Eur Heart J 2017 Jun 7;38(22):1764-1774. doi: 10.1093/eurheartj/ehw559. PMID: 28057773

Clinical prediction guides

Stroik DR, Ceholski DK, Bidwell PA, Mleczko J, Thanel PF, Kamdar F, Autry JM, Cornea RL, Thomas DD
J Mol Cell Cardiol 2020 Jan;138:59-65. Epub 2019 Nov 18 doi: 10.1016/j.yjmcc.2019.11.147. PMID: 31751570Free PMC Article

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