What are the HRS/EHRA guidelines for genetic testing in long QT syndrome (LQTS)?

Updated: Nov 29, 2017
  • Author: Ali A Sovari, MD, FACP, FACC; Chief Editor: Mikhael F El-Chami, MD  more...
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In 2011, the HRS and EHRA issued a joint expert consensus statement on genetic testing for channelopathies and cardiomyopathies with the following recommendations for LQTS testing [38] :

Comprehensive or LQT1-3 (KCNQ1, KCNH2, and SCN5A)–targeted LQTS genetic testing for:

  • Individuals with a strong clinical index of suspicion for LQTS based on their clinical history, family history, and expressed ECG phenotype (Class I)
  • Asymptomatic individuals with idiopathic QT prolongation on serial 12-lead ECGs defined as QTc longer than 480 ms (prepuberty) or longer than 500 ms (adults) (Class I); may be considered for QTc values above 460 ms (prepuberty) or over 480 ms (adults) (Class IIb)

In addition, mutation-specific genetic testing is recommened for family members following identification of LQTS mutation in an index case. (Class I)

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