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Dilated cardiomyopathy 1O(CMD1O)

MedGen UID:
325268
Concept ID:
C1837839
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; CMD1O
 
Gene (location): ABCC9 (12p12.1)
 
Monarch Initiative: MONDO:0012062
OMIM®: 608569

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 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.
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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

Diagnosis

Heinzmann D, Klingel K, Müller K, Kumbrink J, Kirchner T, Schreieck J, Gawaz M, Seizer P
Cell Physiol Biochem 2019;52(3):435-438. Epub 2019 Mar 15 doi: 10.33594/000000031. PMID: 30873819
Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

Prognosis

Chin A, Badri M, Ntusi NB, Okreglicki A
Cardiovasc J Afr 2012 Apr;23(3):136-42. doi: 10.5830/CVJA-2011-019. PMID: 22555637Free PMC Article

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