Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000).

PubMed and EMBASE databases were systematically reviewed in November 2023. Studies assessing the relationship between MVP and TSA and estimating the MVP prevalence in pectus excavatum (PE), pectus carinatum (PC), scoliosis, straight back syndrome (SBS) and Marfan syndrome (MS) were included. There was no limitation on time periods.

Twenty-five studies with a total of 2800 patients (27.9 ± 13.9 years, 48.2% females) were analyzed. The highest prevalence of MVP was observed among MS patients (47.3%), while the lowest was detected in PC individuals (23%). Prevalence of MVP was similar among PE (30.8%), scoliosis (26.3%) and SBS (25.5%) patients. When dividing the studies on the basis of temporal period, the average MVP prevalence was approximately two-fold higher in all studies conducted before the year 2000 in comparison with the most recent ones, regardless of TSA type. This discrepancy might be primarily ascribed to relevant differences in the echocardiographic criteria employed for MVP diagnosis before (less specific) and after (more specific) the year 2000, respectively.

The estimated MVP prevalence in TSA individuals is significantly higher than that observed in the general population. Individuals with TSA should be screened for MVP presence on transthoracic echocardiography.