not-yet-known not-yet-known not-yet-known unknown Introduction Degenerative mitral valve disease causing mitral valve prolapse (MVP) is one of the most common valvular abnormalities, affecting 2%-3% of the population(1). MVP can lead to severe mitral regurgitation requiring surgery or ventricular arrhythmias and even sudden cardiac death. Multiple studies have suggested an important hereditary component of MVP, showing that parental MVP is associated with increased prevalence of MVP in offspring(2). From a large cohort of patients operated for MVP, Hiemstra et al. published a self-reported prevalence of familial MVP of 26%(3). So far, few non-syndromic causative genes have been identified with different types of inheritance patterns (FLNA(4) with recessive X-linked inheritance pattern, DCHS1(5) and DZIP1(6) with autosomal dominant inheritance pattern and PLD1(7) with autosomal recessive inheritance pattern). Furthermore, several genes related to specific syndromes, such as Marfan syndrome (FBN1 gene)(8) and trichorhinophalangeal syndrome (TRPS1 gene)(9), have also been related to MVP. In a recent study based on large-scale exome-based analysis in more than 100 MVP patients, additional novel candidate genes, namely associated with cardiomyopathy, were identified(10). Despite these preliminary findings, most genetic causes of familial MVP are unknown and identification of novel candidate genes provides a better understanding of the MVP pathophysiology and plays a significant role in the screening of these families. The Pdlim7 protein is a member of the PDZ-LIM family, a family of proteins which are thought to act as signal mediators involved in a variety of cellular processes such as migration, signal transduction and differentiation(11, 12). Pdlim7 contains one PDZ and three LIM domains, is associated with cytoskeletal actin(13) and regulates the localization and activity of the nuclear transcription factor Tbx5(14). Pdlim7 plays a role in cardiac development and Pdlim7 knock-down in zebrafish and mice has been shown to result in valvular abnormalities(14, 15). We report a family with MVP and a missense variant in the PDLIM7 gene, a possible novel candidate gene for familial MVP.