Key result
SCN5A mutations manifest as diverse overlapping channelopathies including Brugada syndrome and prolonged QT intervals.
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May support SCN5A testing in mixed Brugada/long-QT phenotypes; leaves open prospective validation for risk stratification.
. SCN5A , , ( ). . 14 (10 , 35,6 19,2 ) . 3 (n = 18), 11 SCN5A. . (43%) . (57%) , , : - -6 (43%), -6 (43%), -4 (29%), 3 (21%) - , Q-T 520 . 25 - 9 (36%) - , 9 (36%) - 17 (68%) - - , (6) (10) , (1), (2) , 3 (12%) , , 18 (72%) -. . , , SCN5A. , , , , .
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Bockeriа et al. (2018) studied this question. SCN5A mutations manifest as diverse, overlapping cardiac sodium channelopathy phenotypes, including Brugada syndrome and prolonged Q-T intervals, in affected patients and families.
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