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Dilated cardiomyopathy 1I(CMD1I)

MedGen UID:
387998
Concept ID:
C1858154
Disease or Syndrome
Synonyms: CMD1I; DES-Related Dilated Cardiomyopathy
 
Gene (location): DES (2q35)
 
Monarch Initiative: MONDO:0011482
OMIM®: 604765

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. [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.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
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.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Reduced systolic function
MedGen UID:
870560
Concept ID:
C4025008
Finding
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

Diagnosis

Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

Prognosis

Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

Clinical prediction guides

Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

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