Sex-dependent phenotypic variability of an SCN5a mutation: Brugada syndrome and sick sinus syndrome

Yoshiyasu Aizawa, Taishi Fujisawa, Yoshinori Katsumata, Shun Kosaka, Akira Kunitomi, Seiko Ohno, Keiko Sonoda, Hidemori Hayashi, Rintaro Hojo, Seiji Fukamizu, Satoshi Nagase, Shogo Ito, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Yasuo Kurita, Yoshiko Furukawa, Seiji Takatsuki, Satoshi Ogawa, Yuji NakazatoMasataka Sumiyoshi, Kenjiro Kosaki, Minoru Horie, Keiichi Fukuda

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article numbere009387
JournalJournal of the American Heart Association
Volume7
Issue number18
DOIs
Publication statusPublished - 2018 Sep 1

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Brugada Syndrome
Sick Sinus Syndrome
Mutation
Sudden Death
Inheritance Patterns
Ventricular Fibrillation

Keywords

  • Brugada syndrome
  • SCN5A
  • Sex
  • Sick sinus syndrome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Sex-dependent phenotypic variability of an SCN5a mutation : Brugada syndrome and sick sinus syndrome. / Aizawa, Yoshiyasu; Fujisawa, Taishi; Katsumata, Yoshinori; Kosaka, 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.

In: Journal of the American Heart Association, Vol. 7, No. 18, e009387, 01.09.2018.

Research output: Contribution to journalArticle

Aizawa, Y, Fujisawa, T, Katsumata, Y, Kosaka, S, Kunitomi, A, Ohno, S, Sonoda, K, Hayashi, H, Hojo, R, Fukamizu, S, Nagase, S, Ito, S, Nakajima, K, Nishiyama, T, Kimura, T, Kurita, Y, Furukawa, Y, Takatsuki, S, Ogawa, S, Nakazato, Y, Sumiyoshi, M, Kosaki, K, Horie, M & Fukuda, K 2018, 'Sex-dependent phenotypic variability of an SCN5a mutation: Brugada syndrome and sick sinus syndrome', Journal of the American Heart Association, vol. 7, no. 18, e009387. https://doi.org/10.1161/JAHA.118.009387
Aizawa, Yoshiyasu ; Fujisawa, Taishi ; Katsumata, Yoshinori ; Kosaka, 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. / Sex-dependent phenotypic variability of an SCN5a mutation : Brugada syndrome and sick sinus syndrome. In: Journal of the American Heart Association. 2018 ; Vol. 7, No. 18.
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abstract = "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.",
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T1 - Sex-dependent phenotypic variability of an SCN5a mutation

T2 - Brugada syndrome and sick sinus syndrome

AU - Aizawa, Yoshiyasu

AU - Fujisawa, Taishi

AU - Katsumata, Yoshinori

AU - Kosaka, Shun

AU - Kunitomi, Akira

AU - Ohno, Seiko

AU - Sonoda, Keiko

AU - Hayashi, Hidemori

AU - Hojo, Rintaro

AU - Fukamizu, Seiji

AU - Nagase, Satoshi

AU - Ito, Shogo

AU - Nakajima, Kazuaki

AU - Nishiyama, Takahiko

AU - Kimura, Takehiro

AU - Kurita, Yasuo

AU - Furukawa, Yoshiko

AU - Takatsuki, Seiji

AU - Ogawa, Satoshi

AU - Nakazato, Yuji

AU - Sumiyoshi, Masataka

AU - Kosaki, Kenjiro

AU - Horie, Minoru

AU - Fukuda, Keiichi

PY - 2018/9/1

Y1 - 2018/9/1

N2 - 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.

AB - 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.

KW - Brugada syndrome

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KW - Sick sinus syndrome

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