胎児期より拡張型心筋症と診断され周産期死亡した兄弟例

Yoshimi Hiraumi; 平海良美; Yumi Sato; 佐藤有美; Naoya Kamei; 亀井直哉; Sachiko Kido; 城戸佐知子; Keiichi Hirono; 廣野恵一; Fukiko Ichida; 市田蕗子; Yukiko Hata; 畑由紀子; Naoki Nishida; 西田尚樹; Toshikatsu Tanaka; 田中敏克

doi:10.9794/jspccs.34.39

胎児期より拡張型心筋症と診断され周産期死亡した兄弟例Fetal Sibling Case of Familial Dilated Cardiomyopathy

平海良美^1,2，佐藤有美^1,3，亀井直哉¹，城戸佐知子¹，廣野恵一⁴，市田蕗子⁴，畑由紀子⁵，西田尚樹⁵，田中敏克¹Yoshimi Hiraumi^1,2, Yumi Sato^1,3, Naoya Kamei¹, Sachiko Kido¹, Keiichi Hirono⁴, Fukiko Ichida⁴, Yukiko Hata⁵, Naoki Nishida⁵, Toshikatsu Tanaka¹

¹ 兵庫県立こども病院循環器科Department of Cardiology, Hyogo Children’s Hospital ◇ Hyogo, Japan

² 日赤和歌山医療センター小児科Department of Pediatrics, Japanese Red Cross Wakayama Medical Center ◇ Wakayama, Japan

³ 加古川医療センター小児科Department of Pediatrics, Kakogawa Central City Hospital ◇ Hyogo, Japan

⁴ 富山大学医学部小児科Department of Pediatrics, Toyama University Hospital ◇ Toyama, Japan

⁵ 富山大学医学部法医学Department of Legal Medicine, Graduate School of Medicine University of Toyama Hospital ◇ Toyama, Japan

受付日：2017年10月19日Received: October 19, 2017

受理日：2017年12月21日Accepted: December 21, 2017

発行日：2018年1月1日Published: January 1, 2018

胎児心エコーの進歩により，多くの先天性心疾患が出生前に診断されるようになったが胎児心筋症の報告は少ない．今回我々は，家族歴と胎児心エコーで拡張型心筋症（DCM）と診断し，周産期に死亡した兄弟例を経験した．父と父の弟がDCMで，両児とも顕微鏡受精で妊娠成立した．第1子は在胎21週に診断し，27週で母体Mirror症候群のため緊急帝王切開で出生したが，生後46分で死亡した．第2子は在胎27週に診断し，33週0日子宮内胎児死亡した．病理解剖所見はEndocardial elastofibrosis（EFE）で，家族性DCMと診断された．両児と両親の遺伝子解析では，父由来のTropomyosin α-1 chain（TPM1）遺伝子変異，母由来のdesmoplakin（DSP）遺伝子変異が同定された．家族性の胎児DCMで周産期死亡した場合，両親の遺伝子診断を行うことで次子の発症を予測できる可能性がある．

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.

Key words: dilated cardiomyopathy; familial cardiomyopathy; fetal echocardiography; tropomyosin α-1 chain (TPM1) gene

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

症例報告Case Report

胎児期より拡張型心筋症と診断され周産期死亡した兄弟例Fetal Sibling Case of Familial Dilated Cardiomyopathy