Same family, same mutation, different ECG.

BACKGROUND

Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad-based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carriers have low-amplitude T waves with high incidences of notches.

METHODS

We describe three members of a family with the same LQTS2 pathogenic variant, but different surface ECG findings.

CONCLUSION

This case shows ECG differences may also occur between family members who have pathogenic variants associated with long QT syndrome.