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Dilated cardiomyopathy 1CC(CMD1CC)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: CMD1CC; NEXN-Related Dilated Cardiomyopathy
Gene (location): NEXN (1p31.1)
Monarch Initiative: MONDO:0013147
OMIM®: 613122


Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN 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.
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.
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  

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