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Dilated cardiomyopathy 1NN(CMD1NN)

MedGen UID:
Concept ID:
Disease or Syndrome
Gene (location): RAF1 (3p25.2)
Monarch Initiative: MONDO:0014396
OMIM®: 615916


Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. [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.
Mitral regurgitation
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Ventricular arrhythmia
MedGen UID:
Concept ID:
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Reduced left ventricular ejection fraction
MedGen UID:
Concept ID:
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Abnormal ST segment
MedGen UID:
Concept ID:
Anatomical Abnormality
An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.
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).

Supplemental Content

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