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

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-03-28 DOI:10.1002/ccr3.70282

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

引用次数: 0

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.

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在本例家族性二尖瓣脱垂病例中，通过全外显子测序发现了 PDLIM7 基因中的一个错义变异。基于 PDLIM7 基因敲除小鼠和斑马鱼显示二尖瓣异常，该基因被认为可能是家族性 MVP 的新型候选基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).