Clinical case reports, Volume 13, Issue 4, 28 4 2025, Pages e70282 A <i>PDLIM7</i> Variant in Familial Mitral Valve Prolapse: A Case Series. van Wijngaarden AL, Koopmann TT, Ruivenkamp CAL, Wu HW, Ajmone Marsan N, Barge-Schaapveld DQCM
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.
