U.S. flag

An official website of the United States government


Send to:

Choose Destination

Dilated cardiomyopathy 1FF(CMD1FF)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: CMD1FF
Gene (location): TNNI3 (19q13.42)
Monarch Initiative: MONDO:0013211
OMIM®: 613286


A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. [from MONDO]

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
Concept ID:
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:
Concept ID:
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.
Severely reduced left ventricular ejection fraction
MedGen UID:
Concept ID:
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.
Increased left ventricular end-diastolic volume
MedGen UID:
Concept ID:
Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...