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Mitral valve prolapse, myxomatous 3(MMVP3; MVP3)

MedGen UID:
372132
Concept ID:
C1835814
Disease or Syndrome
Synonyms: Mitral valve prolapse 3; MMVP3
 
Gene (location): DZIP1 (13q32.1)
 
Monarch Initiative: MONDO:0012569
OMIM®: 610840

Definition

Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance. For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700). [from OMIM]

Clinical features

From HPO
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
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.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.

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