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(Circulation. 2005;111:3352-3358.)
© 2005 American Heart Association, Inc.

Arrhythmia/Electrophysiology

High Incidence of Sudden Cardiac Death With Conduction Disturbances and Atrial Cardiomyopathy Caused by a Nonsense Mutation in the STA Gene

Kenji Sakata, MD; Masami Shimizu, MD; Hidekazu Ino, MD; Masato Yamaguchi, MD; Hidenobu Terai, MD; Noboru Fujino, MD; Kenshi Hayashi, MD; Tomoya Kaneda, MD; Masaru Inoue, MD; Yoshio Oda, MD; Takashi Fujita, MD; Bunji Kaku, MD; Hounin Kanaya, MD; Hiroshi Mabuchi, MD

From the Departments of Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (K.S., M.S., H.I., M.Y., H.T., N.F., K.H., T.K., M.I., H.M.) and of Molecular and Cellular Pathology (Y.O.), Graduate School of Medical Science, Kanazawa University, and the Division of Cardiology (T.F., B.K., H.K.), Ishikawa Prefectural Hospital, Kanazawa, Japan.

Correspondence to Masami Shimizu, MD, Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8640, Japan. E-mail shimizu{at}med.kanazawa-u.ac.jp

Received February 14, 2004; de novo received December 2, 2004; revision received February 23, 2005; accepted March 4, 2005.

Background— The STA gene encodes emerin and is one of the genes that is affected in Emery-Dreifuss muscular dystrophy (EDMD). Although it has been reported that EDMD caused by the STA gene mutation is associated with X-linked recessive inheritance, the genotype-phenotype correlations, with special reference to cardiac manifestations, are not well defined.

Methods and Results— We identified 16 carriers (7 male and 9 female) with a nonsense mutation in exon 6 of the STA gene in 2 EDMD families. Pacemakers were required for treatment of bradyarrhythmias in all 7 male carriers and in 2 of the 9 female carriers. In addition, 2 of the 9 female carriers displayed atrial fibrillation. In these 2 families, 3 males without pacemaker implantation, who were not tested genetically, had died suddenly. In these family members, the majority of carriers with the mutation had not been clinically diagnosed as having EDMD before genetic testing because of extremely mild or nonexistent skeletal myopathy.

Conclusions— EDMD caused by this mutation is characterized by atypical clinical features and incomplete penetrance of the clinical phenotype and may result in serious cardiac complications, including sudden death. Approaches to preventing possible sudden death in carriers with the STA gene mutation require further study.

Key Words: cardiomyopathy • genetics • death, sudden • atrium • pacemakers

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