Key result
SCN5A mutations are increasingly recognized to cause complex overlap syndromes presenting with mixed phenotypes of LQT3, Brugada syndrome, conduction disease, and potentially dilated cardiomyopathy.
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This editorial highlights the growing recognition of SCN5A overlap syndromes, where single mutations can cause multiple distinct arrhythmia and cardiomyopathic phenotypes.
Remme et al. (2008) conducted an editorial in SCN5A overlap syndromes. SCN5A mutations (e.g., delQKP1507-1509) was evaluated. SCN5A mutations are increasingly recognized to cause complex overlap syndromes presenting with mixed phenotypes of LQT3, Brugada syndrome, conduction disease, and potentially dilated cardiomyopathy.
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