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

Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 34(1): 39-45 (2018)
doi:10.9794/jspccs.34.39

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

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
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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

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This page was last modified on 2018-03-06T11:32:05.452+09:00


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