Question

6 year old boy presents with difficulty hearing. No ear pain, discharge or URI symptoms. Initial testing suggests bilateral sensorineural hearing loss. Paternal uncle died suddenly at age 12. ENT exam is normal. ECG shows NSR and prolonged QT interval at 520 msec. Echocardiogram shows normal left and right ventricular function without valve disease. Genetic defect affecting what is likely present in this patient?

Answer 1

Based on the clinical history, it is possible that the patient has long QT syndrome, which is a genetic condition that affects the heart's electrical system and can cause sudden death.

Long QT syndrome is caused by a genetic defect in the proteins that form the heart's electrical system, which can lead to a prolonged heart rhythm called torsades de Pointes (TdP). TdP is a dangerous arrhythmia that can result in sudden cardiac arrest, especially during physical exertion or emotional stress.

In this patient's case, the prolonged QT interval on the ECG and the history of sudden death in the paternal uncle suggest a genetic defect affecting the heart's electrical system. The absence of structural heart disease and normal ventricular function on the echocardiogram are consistent with this diagnosis.