title: Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43.
abstract: We herein describe a fetal case of arrhythmogenic right ventricular cardiomyopathy (ARVC) with double mutations in transmembrane protein 43 (TMEM43). RV aneurysm and ventricular arrhythmia were detected during the fetal period. After birth, electrocardiogram showed frequent premature ventricular contractions (PVC) of left bundle branch block morphology and epsilon waves in the right-sided chest leads. Echocardiography also indicated RV aneurysm with regionally decreased systolic function. PVC disappeared after treatment with amiodarone and mexiletin. Mutations in TMEM43, which was recently identified as the causative gene of ARVC type 5, were also confirmed in the present patient and in the patient's mother, and they were therefore diagnosed with ARVC. The present case confirms that symptoms of ARVC can emerge during the fetal period. Pediatricians need to keep in mind the possibility of ARVC when they encounter patients with RV aneurysm and arrhythmia.
authors: Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Takashi
authors: T
authors: Honda
authors: Department of Obstetrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Yuji
authors: Y
authors: Kanai
authors: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan.
authors: Seiko
authors: S
authors: Ohno
authors: Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Hisashi
authors: H
authors: Ando
authors: Department of Obstetrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Masako
authors: M
authors: Honda
authors: Department of Cardiology, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Shinichi
authors: S
authors: Niwano
authors: Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
authors: Masahiro
authors: M
authors: Ishii
keywords: TMEM43; arrhythmogenic right ventricular cardiomyopathy; fetal arrhythmia; gene analysis; right ventricular aneurysm