The mystery of sudden death in Williams-Beuren syndrome: Cardiomyopathy or Kounis syndrome?

摘要

In the very interesting paper published in this Journal [1 ], a young male patient suffering from congenital Williams-Beuren syndrome (WBS), with surgically corrected supravalvular aortic stenosis during early childhood, presented with recurrent ventricular fibrillation and cardiac arrest which was treated successfully with repetitive defibrilla-tion. Subsequent echocardiography and angiography revealed global myocardial hypokinesia, normal coronary arteries and no evidence of subvalvar aortic stenosis. The patient was treated with a single-channel intracardiac device for secondary prevention. The authors of this report emphasized that the underlying mechanism of cardiac arrest could not be fully elucidated and speculated that the elastin gene down regulation in association with global hypokinesia may be associated with dilated cardiomyopathy.