A <scp> <i>PDLIM7</i> </scp> Variant in Familial Mitral Valve Prolapse: A Case Series
In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the <i>PDLIM7</i> 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.
Authors
- Tamara T. Koopmann (ORCID: https://orcid.org/0000-0001-7918-6634)
- Aniek L. van Wijngaarden (ORCID: https://orcid.org/0000-0001-5636-8945)
- Nina Ajmone Marsan (ORCID: https://orcid.org/0000-0001-7208-5769)
- Hoi W Wu (ORCID: https://orcid.org/0000-0002-7280-8258)
- Daniela Q.C.M. Barge‐Schaapveld (ORCID: https://orcid.org/0000-0003-4461-4293)
- Claudia Ruivenkamp (ORCID: https://orcid.org/0000-0003-1450-4376)
Institutions
- Leiden University Medical Center (NL)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1002/ccr3.70282
- Primary Topic
- Cardiac Valve Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00