日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Restrictive cardiomyopathy (RCM) is characterized by impaired ventricular diastolic function with preserved ventricular contraction and wall thickness. The prognosis of young children with idiopathic RCM is poor, and the 2-year transplant-free survival rate has been reported to be approximately 40%. No medical treatment has been established for ventricular diastolic dysfunction; thus, heart transplantation is the only way to cure end-stage heart failure in patients with RCM. Herein, the pathology, etiology, clinical examinations, and medical management of pediatric patients with RCM were reviewed. This article includes a clinical case review of pediatric patients with RCM in our institute and the results of in vitro experiments using cardiac fibroblasts derived from patients with RCM and exome sequencing.