Key result
Long and short QT syndromes are genetically heterogeneous diseases caused by mutations in cardiac ion channel genes, where genetic testing aids in diagnosis, risk stratification, and therapy.
Genetic testing in long and short QT syndromes is crucial for diagnosis, risk stratification, and preventing unexpected cardiac death in family members.
The long and short QT syndromes are heterogeneous diseases characterized by abnormal ventricular repolarization and episodes of syncope and/or life-threatening cardiac arrhythmias. Several disease-causing genes have been identified, including those encoding cardiac ion channel-composing proteins. The clinical determination of genotype offers a striking benefit: diagnosis, prediction of clinical phenotype, risk stratification, clinical and genetic counseling, and introduction of therapy. Genetic testing is of special importance for the genotyped patient's family members to prevent unexpected cardiac death. By means of recently advanced methodology in molecular genetics and electrophysiology it is expected that novel genes responsible for these disease entities will be identified.
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Horie et al. (2007) conducted a review in Long QT and Short QT Syndromes. Long and short QT syndromes are genetically heterogeneous diseases caused by mutations in cardiac ion channel genes, where genetic testing aids in diagnosis, risk stratification, and therapy.
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