Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.
Gerard A MarchalMathilde R RivaudRianne WolswinkelCristina BassoToon A B van VeenConnie R BezzinaCarol Ann RemmePublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2024)
Genetic background and age both modulate disease severity in Scn5a1798insD/+ mice, and hence may explain, at least in part, the variable disease expressivity observed in patients with SCN5A mutations. Age- and genetic background-dependent development of cardiac structural alterations furthermore impacts on arrhythmia risk. Our findings therefore emphasise the importance of continued assessment of cardiac structure and function in patients carrying SCN5A mutations.