Key result
Eleven forms of congenital long QT syndrome are linked to ion channel mutations, with LQT1, LQT2, and LQT3 constituting >90% of genotyped patients, whereas Brugada syndrome mutations are less known.
This review highlights the established genotype-phenotype correlations in congenital LQTS compared to the more limited genetic understanding of Brugada syndrome.
Reinforces targeted LQTS genetic testing; leaves open comprehensive mutation mapping in Brugada syndrome.
The inherited cardiac arrhythmias including congenital and acquired long QT syndrome (LQTS), Brugada syndrome, progressive cardiac conduction defect, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy, familial atrial fibrillation, familial sick sinus syndrome and short QT syndrome, are linked to mutations in genes encoding for ion channels or other membrane components. Eleven forms of congenital LQTS have been identified and these are caused by mutations in genes of the potassium, sodium and calcium channels or membrane adapter. Genotype-phenotype correlations have been rigorously investigated, especially in the LQT1, LQT2 and LQT3 forms, which constitute more than 90% of genotyped patients. On the other hand, causative mutations were identified much less in patients with Brugada syndrome, therefore data on genotype-phenotype relationships are limited.
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Wataru Shimizu (2008) conducted a review in Congenital Long QT Syndrome and Brugada Syndrome. Eleven forms of congenital long QT syndrome are linked to ion channel mutations, with LQT1, LQT2, and LQT3 constituting >90% of genotyped patients, whereas Brugada syndrome mutations are less known.
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