2013 1 33 1 33 1005-2194 2013 01-0033 - 05 R541. 7 A 2011 2011 PU Jie-lin. National Center for Cardiovascu- Gene assaying for inherited cardiac arrhythmia a Chinese consensus. lar Diseases Fuwai Hospital Beijing 100037 China Abstract In 2011 based on worldwide research progress and opinions experts of Chinese Society of Cardiology Chinese Medical Association and Editorial Board of Chinese Journal of Cardiology issued the 2011 China Expert Consensus Statement on Genetic Testing for Cardiac Channelopathies and Cardiomyopathies. The statement mostly delineated the impacts of genetic testing on the diagnosis prognosis treatment and prophylaxis of inherited cardiac arrhythmia and has offered instructions for genetic testing in China. Keywords inherited cardiac arrhythmia genetic testing cardiac channelopathies sudden cardiac death 2011 23B 2011 1 973 8 12 120 50 2007 2009 1 AHA /ACC /ESC 1995 Ⅰ 30 Ⅱa Ⅱb 100037 jielinpu@ sina. cn Ⅲ
34 Chinese Journal of Practical Internal Medicine Jan. 2013 Vol. 33 No. 1 QTc > 500 ms β- C LQTS β- 2 QT LQTS LQTS QT LQT3 ICD T TdP 2. 1 LQT LQTS 12 ECG QT LQT1-3 KCNQ1 KCNH2 SCN5A 10% ~ 40% QT ECG 12 QT LQTS 2 ECGs Holter LQTS QT LQTS 1 / QTc > 480 ms QTc > 500 ms 2500 10 QT 50% 3 4-13 LQTS 9 KCNQ1 LQT1 KCNH2 LQT2 SCN5A LQT3 LQTS QT QTc > 75% KCNQ1 KCNH2 460 ms QTc > 480 ms Ⅱb 80% 4 13 LQTS LQTS 5% LQTS Ⅰ LQT1-3 TdP Ⅱb LQT1-3 12 QTc ECG LQTS 10% ~ 20% Ⅱb LQTS 4% 3 CPVT TdP LQTS LQTS SCD CPVT Andersen-Tawil CPVT ECG QT QTc 480 ms QTc 500 ms PVCs PVCs CPVT 12 ECG 24 h QTc QTc 460 ms Holter QTc 480 ms CPVT 2 ~ 4 QTc 470 ms 50% LQT1-3 - HCM ECG CPVT 8 LQT1-2 30% CPVT 10 LQT3 LQT1 LQT2 LQT1 LQT2 LQT3 Ⅰ LQT1-3 CPVT LQTS BrS 60% 40 1 2 7 10 SIDS
2013 1 33 1 35 RYR2 2 CPVT 2 RYR2 CPVT1 CASQ2 CPVT2 10-11 2 CPVT 65% RYR2 3% ~ 5% CASQ2 65% CPVT RYR2 BrS BrS CPVT BrS 1 CPVT Ⅰ 2 CPVT ECG 12 ECGs CPVT BrS β-scn5a Ⅱa 3 CPVT 2 3 Brugada ECG Ⅲ SIDS CPVT 5 CCD β- CPVT CPVT1 RYR2 CPVT2 CASQ2 BrS ECG CPVT CCD Ⅰ Ⅰ 4 Brugada BrS BrS ST CCD SCD BrS 30 ~ CCD 40 SCN5A 30 CCD BrS 1 /10 000 ~ 1 /5000 11 Brugada 19 Ⅰ Brugada ECG SCN1B CCD BrS BrS M 4 TRPM4 Ca 2 + CCD 25% RBBB 10% BrS ICD CCD SCN5A SCN1B TRPM4 8 SCN5A GPD1L CACNA1C CACNB2b SCN1b KCNE3 KCNH2 12-17 BrS > 75% BrS 25% BrS BrS SCN5A CCD ECG 18 CCDs CCDs HCN4 SCN5A SCN5A
36 Chinese Journal of Practical Internal Medicine Jan. 2013 Vol. 33 No. 1 CCD SQTS 1 NKX2. 5 GATA4 ECG SQTS CCD KCNH2 KCNQ1 KCNJ2 Ⅱb CCD LMNA 2 Lamin A Lamin C Ⅰ DES EMD 7 CCD CCD 39% SCN5A SCN1B TRPM4 HCN4 KCNQ1 22 KC- CCD NE2 23 KCNJ2 24 KCNE3 KCNH2 KCNE5 KC- 4 NA5 25 NPPA 26 ABCC9 CCD SCN5A SCN1B SCN2B SCN3B GJA5 27 GJA1 RyR2 TBX5 ANP NPPA NUP155 5% CCD 1 Ⅰ CCD 1 2 Ⅱb CCD CCD 2 40 6 QT SQTS SQTS ECG QT 8 QTc < 360 ms QTc < 365 ms T SCD SQTS SIDS SQTS SCD SQTS 20% 3 KCNH2 SQT1 KCNQ1 SQT2 KCNJ2 SQT3 19-21 QT Ⅰ Brugada ECG CAC- NA1C CACNB2b SQTS SQTS SNP Ⅲ 5 ~ 10 ml DNA Ⅱa C DNA SQTS
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