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Updated Genetic Testing Guidelines
Updated Guidelines for Genetic Testing Published in Heart Rhythm
"The 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing of Channelopathies and Cardiomyopathies" was written by a group of national and international heart rhythm experts, including SADS Board and Scientific Advisors, Dr. Michael Ackerman, Dr. Silvia Priori, Dr. Charles Berul and Dr. Arthur Wilde, in collaboration with the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). In this statement, the authors summarize the state of genetic testing for various channelopathies and cardiomyopathies and assign a classification to the utility of each with respect to the relative diagnostic, prognostic and therapeutic impact the genetic test results will have for a patient. Genetic testing is either considered “recommended”,” useful”, “may be considered” or “not recommended” depending on the criteria that are met by each individual test. Of specific note, detailed information and recommendations for genetic testing for LQTS, Brugada Syndrome, SQTS and ARVC for both index and family testing are included.
For LQTS, targeted genetic testing is recommended (class I) for:
any patient in whom a cardiologist has established a strong clinical index of suspicion for LQTS based on examination of the patients clinical history, family history and expressed electrocardiographic phenotype
for any asymptomatic patient with QT prolongation in the absence of other clinical conditions that might prolong the QTc interval on serial 12 lead ECG defined as QTc>480ms (prepuberty) or >500ms (adults)
mutation-specific genetic testing is recommended for family members and other appropriate relatives subsequently following the identification of the LQTS-causative mutation in an index case
For LQTS, targeted genetic testing may be considered (class IIb) for:
any asymptomatic patient with otherwise idiopathic QTc values >460ms (prepuberty) or >480ms (adults) on serial 12-lead ECGs.
The state of genetic testing for out-of-hospital cardiac arrest survivors as well as postmortem testing in sudden unexplained death cases were also reviewed and recommendations generated.
Table 1: Summary of Expert Consensus
Click to see PDF (larger view)
Table 2: Summary of the Common Cardiac Channelopathy/Cardiomyopathy-Associated Genes
Click to view
Figure 1: Impact of Genetic Testing for the Index Case
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PDF (Larger view)
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