Background: Achondroplasia is the most common short stature skeletal dysplasia, but there are few reports of cardiac surgical intervention in these patients.
Case summary: We present a case of mitral valve (MV) repair for mitral regurgitation in a patient with achondroplasia. A 55-year-old man with achondroplasia and obstructive sleep apnea presented with acute-onset dyspnea. Echocardiography demonstrated severe mitral regurgitation with a flail posterior leaflet. He underwent uncomplicated MV repair with artificial cords and an annuloplasty.
Discussion: MV repair is feasible and can be straightforward in patients with achondroplasia. We discuss important considerations for future peri- and intraoperative providers of these patients in cardiac surgery.
Bradshaw A, Bradshaw JC, Suffredini G, Hoover-Fong J, Gammie JS. Mitral Valve Repair in a Patient With Achondroplasia. JACC Case Rep. 2025 Aug 6;30(22):104654. doi: 10.1016/j.jaccas.2025.104654. PMID: 40780798; PMCID: PMC12426510.
Mitral Valve Repair in a Patient With Achondroplasia
Reparación de la válvula mitral en un paciente con acondroplasia
2025
Bradshaw A, Bradshaw JC, Suffredini G, Hoover-Fong J, Gammie JS.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12426510/