Mitral valve prolapse, myxomatous 3(MMVP3; MVP3)

MedGen UID:: 372132
•Concept ID:: C1835814
•: Disease or Syndrome

Synonyms:	Mitral valve prolapse 3; MMVP3

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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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Abnormality of the cardiovascular system
- Mitral regurgitation
- Mitral valve prolapse

Professional guidelines

PubMed

The role of 3-dimensional echocardiography in the diagnosis and management of mitral valve disease: myxomatous valve disease.

Tsang W, Freed BH, Lang RM
Cardiol Clin 2013 May;31(2):203-15. Epub 2013 Apr 13 doi: 10.1016/j.ccl.2013.03.002. PMID: 23743073

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Mitral valve prolapse, myxomatous 3(MMVP3; MVP3)

Definition

Clinical features

Professional guidelines

PubMed

Supplemental Content

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Genetic Testing Registry

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