Cardiovascular risk in achondroplasia: a systematic review

Achondroplasia is the most common form of disproportionate short stature and is associated with reduced life expectancy. It is not clear to what extent cardiovascular disease (CVD) is responsible for this. The primary aim of this systematic review was to identify the prevalence of CVD in individuals with achondroplasia.

A systematic review of the literature was conducted in accordance with PRISMA guidelines by two independent reviewers using two databases. There were no language or date restrictions. The search strategy consisted of the terms: "achondroplasia" AND "vascular" OR "cardiovascular" OR "metabolic". Quality assessment was undertaken using the Critical Appraisal Skills Programme checklists.

In total, 300 articles which met the inclusion criteria were screened. Of these, 33 (11%) were included for analysis published between 1972 and 2023, encompassing >5000 individuals with achondroplasia. Techniques of cardiovascular assessment included measures of adiposity in 20 (61% of included studies), metabolic parameters in 9 (27%), blood pressure in 6 (18%), physical activity in 6 (18%) and morbidity and mortality secondary to CVD in 5 (15%). People with achondroplasia were found to be at increased risk of obesity, impaired glucose regulation and hypertension.

There is significant heterogeneity in the outcomes measured to assess CVD risk in people with achondroplasia. As a result, there remain significant gaps in the literature regarding the development of CVD in individuals with this condition. Longitudinal studies offering detailed cardiovascular phenotyping should be considered in people with achondroplasia to mitigate the risks of CVD-related morbidity and mortality.