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

Fetal echocardiography is a well-established tool for prenatal diagnosis of many congenital heart diseases. However, there are few reports on the fetal diagnosis of cardiomyopathy. We herein report a case of siblings who were diagnosed as having familial dilated cardiomyopathy (DCM) by fetal echocardiography, pathological findings, and genetics analysis. Their father and father’s younger brother had DCM. Patient 1 was diagnosed at 21 weeks of gestation, and patient 2 at 27 weeks of gestation. Patient 1 was born by emergency cesarean section in the 27th week but died 46 minutes after birth. Patient 2 died in utero at 33 weeks of gestation. Pathological autopsy findings of both patients demonstrated endocardial elastofibrosis. Genetic analysis of both patients and their parents revealed a father-derived tropomyosin α-1 chain (TPM1) gene mutation and mother-derived desmoplakin (DSP) gene mutation. The prognosis of familial fetal DCM is poor, and careful family planning is necessary.