TY - JOUR
T1 - Subcutaneous and transvenous implantable cardioverter defibrillator in high-risk long-QT syndrome type 3 associated with Val411Met mutation in SCN5A
AU - Yokoyama, Yasuhiro
AU - Aiba, Takeshi
AU - Ueda, Nobuhiko
AU - Nakajima, Kenzaburo
AU - Kamakura, Tsukasa
AU - Wada, Mitsuru
AU - Yamagata, Kenichiro
AU - Ishibashi, Kohei
AU - Inoue, Yuko
AU - Miyamoto, Koji
AU - Nagase, Satoshi
AU - Noda, Takashi
AU - Yasuda, Satoshi
AU - Shimizu, Wataru
AU - Kusano, Kengo
N1 - Publisher Copyright:
© 2020 Japanese College of Cardiology
PY - 2020/11
Y1 - 2020/11
N2 - Congenital long-QT syndrome type 3 (LQT3) with SCN5A-V411M mutation has been reported as a malignant case of LQT3 with highest risk for sudden cardiac death (SCD). Here, we present two cases of LQT3 with SCN5A-V411M who had been implanted with subcutaneous (S-) or transvenous (TV-) implantable cardioverter defibrillators (ICD). Case 1, a 2-year-old boy, although he had no symptoms, was diagnosed as having LQT3 (V411M-SCN5A) due to family history. The QTc interval was still longer than 500 ms during follow-up even under oral mexiletine. Case 2 (his aunt) diagnosed as LQT3 suffered from syncope caused by ventricular fibrillation at 35-years-old despite taking mexiletine. Furthermore, case 1’s father and half-brother, both had the V411M mutation with LQT3, had suddenly died. Thus, case 1 was recommended S-ICD when he was 15-years-old for primary prevention of SCD but not necessary for pacing therapy, while, case 2 had been implanted TV-ICD for secondary prevention of SCD. They had no event after ICD implantation, however, case 2 had to have added an extra ICD-lead due to lead failure when she was 44-years-old. The S-ICD may be a potent therapeutic option for high-risk LQTS when patients are younger and do not need pacing therapy. <Learning objective: In congenital long-QT syndrome (LQTS) type 3, some of the first events are lethal, particularly, LQT3 with V411M-SCN5A mutation is the highest risk for sudden cardiac death (SCD). Which implantable cardioverter defibrillator (ICD), transvenous (TV-ICD) or subcutaneous (S-ICD) is better for primary prevention of SCD in LQTS is still controversial. The S-ICD rather than TV-ICD may have a potent benefit for high-risk LQTS when patients are younger and do not need pacing therapy.>
AB - Congenital long-QT syndrome type 3 (LQT3) with SCN5A-V411M mutation has been reported as a malignant case of LQT3 with highest risk for sudden cardiac death (SCD). Here, we present two cases of LQT3 with SCN5A-V411M who had been implanted with subcutaneous (S-) or transvenous (TV-) implantable cardioverter defibrillators (ICD). Case 1, a 2-year-old boy, although he had no symptoms, was diagnosed as having LQT3 (V411M-SCN5A) due to family history. The QTc interval was still longer than 500 ms during follow-up even under oral mexiletine. Case 2 (his aunt) diagnosed as LQT3 suffered from syncope caused by ventricular fibrillation at 35-years-old despite taking mexiletine. Furthermore, case 1’s father and half-brother, both had the V411M mutation with LQT3, had suddenly died. Thus, case 1 was recommended S-ICD when he was 15-years-old for primary prevention of SCD but not necessary for pacing therapy, while, case 2 had been implanted TV-ICD for secondary prevention of SCD. They had no event after ICD implantation, however, case 2 had to have added an extra ICD-lead due to lead failure when she was 44-years-old. The S-ICD may be a potent therapeutic option for high-risk LQTS when patients are younger and do not need pacing therapy. <Learning objective: In congenital long-QT syndrome (LQTS) type 3, some of the first events are lethal, particularly, LQT3 with V411M-SCN5A mutation is the highest risk for sudden cardiac death (SCD). Which implantable cardioverter defibrillator (ICD), transvenous (TV-ICD) or subcutaneous (S-ICD) is better for primary prevention of SCD in LQTS is still controversial. The S-ICD rather than TV-ICD may have a potent benefit for high-risk LQTS when patients are younger and do not need pacing therapy.>
KW - Implantable cardioverter defibrillator
KW - Long-QT syndrome
KW - SCN5A
KW - Sudden cardiac death
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U2 - 10.1016/j.jccase.2020.07.007
DO - 10.1016/j.jccase.2020.07.007
M3 - Article
AN - SCOPUS:85089295190
VL - 22
SP - 238
EP - 241
JO - Journal of Cardiology Cases
JF - Journal of Cardiology Cases
SN - 1878-5409
IS - 5
ER -