Mitral valve prolapse, myxomatous 2(MMVP2; MVP2)

MedGen UID:: 335856
•Concept ID:: C1843003
•: Disease or Syndrome

Synonyms:	Mitral valve prolapse 2; MMVP2

Gene (location): Gene(s) directly associated with this condition or phenotype.	DCHS1 (11p15.4)

Monarch Initiative:	MONDO:0011915
OMIM®:	607829

Definition

Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait. 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

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Mitral valve prolapse, myxomatous 2(MMVP2; MVP2)

Definition

Clinical features

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