# A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series

**Authors:** Aniek L. van Wijngaarden, Tamara T. Koopmann, Claudia A. L. Ruivenkamp, Hoi W. Wu, Nina Ajmone Marsan, Daniela Q. C. M. Barge‐Schaapveld

PMC · DOI: 10.1002/ccr3.70282 · Clinical Case Reports · 2025-03-28

## TL;DR

A genetic variant in PDLIM7 is linked to familial mitral valve prolapse, based on findings in humans and animal models.

## Contribution

PDLIM7 is proposed as a novel candidate gene for familial mitral valve prolapse.

## Key findings

- A missense variant in PDLIM7 was identified in a case of familial mitral valve prolapse.
- PDLIM7 knock-out mice and zebrafish showed mitral valve abnormalities, supporting its role in MVP.

## 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.

## Linked entities

- **Genes:** PDLIM7 (PDZ and LIM domain 7) [NCBI Gene 9260]
- **Diseases:** mitral valve prolapse (MONDO:0004910)
- **Species:** Mus musculus (taxon 10090), Danio rerio (taxon 7955)

## Full-text entities

- **Genes:** pdlim7 (PDZ and LIM domain 7) [NCBI Gene 393813] {aka zgc:65907, zgc:85607}
- **Diseases:** MVP (OMIM:157700), mitral valve abnormalities (MESH:D008944), Mitral Valve Prolapse (MESH:D008945)
- **Species:** Danio rerio (leopard danio, species) [taxon 7955], Mus musculus (house mouse, species) [taxon 10090]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11952993/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11952993/full.md

## References

21 references — full list in the complete paper: https://tomesphere.com/paper/PMC11952993/full.md

---
Source: https://tomesphere.com/paper/PMC11952993