Open AccessSex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome
Author(s) -
Aizawa Yoshiyasu,
Fujisawa Taishi,
Katsumata Yoshinori,
Kohsaka Shun,
Kunitomi Akira,
Ohno Seiko,
Sonoda Keiko,
Hayashi Hidemori,
Hojo Rintaro,
Fukamizu Seiji,
Nagase Satoshi,
Ito Shogo,
Nakajima Kazuaki,
Nishiyama Takahiko,
Kimura Takehiro,
Kurita Yasuo,
Furukawa Yoshiko,
Takatsuki Seiji,
Ogawa Satoshi,
Nakazato Yuji,
Sumiyoshi Masataka,
Kosaki Kenjiro,
Horie Minoru,
Fukuda Keiichi
Publication year - 2018
Publication title -
journal of the american heart association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.494
H-Index - 85
ISSN - 2047-9980
DOI - 10.1161/jaha.118.009387
Subject(s) - sick sinus syndrome , brugada syndrome , medicine , proband , ventricular fibrillation , pediatrics , sinus (botany) , family history , sudden death , genetics , mutation , biology , gene , botany , genus
Background Brugada syndrome ( BS ) is known to be 9 times more prevalent in males than females. However, little is known about the development of sick sinus syndrome in female members with familial BS . Methods and Results Familial BS patients and family members, both from our institutions and collaborating sites that specialize in clinical care of BS , participated in this study. We collected information on their clinical and genetic background, along with the inheritance patterns of BS . Detailed information on each case with familial BS is described. A total of 7 families, including 25 BS patients (12 females and 13 males), were included. Seven were probands and 18 were family members. Ten out of the 12 female patients and none of the 13 male patients developed sick sinus syndrome. Sudden death or spontaneous ventricular fibrillation occurred in 7 out of 13 male patients and 2 out of 12 female patients. Conclusions Familial BS existed in which female patients developed sick sinus syndrome but male patients did not. Some of those female patients with sick sinus syndrome had unrecognized BS . Information should be collected not only regarding a family history of sudden death or BS , but also whether a pacemaker was implanted in female members.