TY - JOUR
T1 - Pediatric cohort with long QT syndrome – KCNH2 mutation carriers present late onset but severe symptoms –
AU - Ozawa, Junichi
AU - Ohno, Seiko
AU - Hisamatsu, Takashi
AU - Itoh, Hideki
AU - Makiyama, Takeru
AU - Suzuki, Hiroshi
AU - Saitoh, Akihiko
AU - Horie, Minoru
N1 - Publisher Copyright:
© 2016, Japanese Circulation Society. All rights reserved.
PY - 2016/2/25
Y1 - 2016/2/25
N2 - Background: In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differences in prognosis remain unknown in Asian countries. Methods and Results: The study examined clinical prognosis at age between 1 and 20 years in 496 LQTS patients who were genotyped as either of LQT1–3 (male, n=206). Heterozygous mutations were observed in 3 major responsible genes: KCNQ1 in 271, KCNH2 in 192, and SCN5A in 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys≤12 years (HR, 0.55), whereas LQT2 female patients ≥13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. In addition, all 5 female LQT2 patients in these groups had the event after or near puberty. Conclusions: Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty.
AB - Background: In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differences in prognosis remain unknown in Asian countries. Methods and Results: The study examined clinical prognosis at age between 1 and 20 years in 496 LQTS patients who were genotyped as either of LQT1–3 (male, n=206). Heterozygous mutations were observed in 3 major responsible genes: KCNQ1 in 271, KCNH2 in 192, and SCN5A in 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys≤12 years (HR, 0.55), whereas LQT2 female patients ≥13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. In addition, all 5 female LQT2 patients in these groups had the event after or near puberty. Conclusions: Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty.
KW - Child
KW - Genetics
KW - Long QT syndrome
KW - Sex hormone
KW - Torsade de pointes
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U2 - 10.1253/circj.CJ-15-0933
DO - 10.1253/circj.CJ-15-0933
M3 - Article
C2 - 26823142
AN - SCOPUS:84959017937
VL - 80
SP - 696
EP - 702
JO - Circulation Journal
JF - Circulation Journal
SN - 1346-9843
IS - 3
ER -