A PDLIM7 variant in familial mitral valve prolapse: a case series

Author(s):
Wijngaarden, A.L. van (0000-0001-5636-8945); Koopmann, T.T.; Ruivenkamp, C.A.L.; Wu, H.W.; Marsan, N.A.; Barge-Schaapveld, D.Q.C.M.
Published
2025
Publication type
Article / Letter to editor

Abstract

In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the PDLIM7 gene. This gene is considered a possible novel candidate gene for familial MVP based on PDLIM7 knock-out mice and zebrafish showing mitral valve abnormalities.

cardiologygenetics and genomicsmitral valve prolapsePDLIM7whole exome analysis
Date issued
2025-04-01
Language
English
Publisher
WILEY
Is part of
Clinical Case Reports (2025), No. 4
hdl
1887/4293751
doi
10.1002/ccr3.70282