620 A RARE CASE OF HYPERTROPHIC CARDIOMYOPATHY


 
 
 In patients presenting with hypertrophic cardiomyopathy (HCM), the differential diagnosis of “non-sarcomeric” versus “sarcomeric” HCM forms is crucial because of their differences in prognosis and treatment strategies.
 
 
 
 We present the case of a 31 years-old male with unexplained syncope, occurring abruptly. His father died of sudden cardiac death (SCD) and his paternal aunt was known for HCM. The electrocardiogram showed left ventricular (LV) hypertrophy and signs of ventricular pre-excitation; the echocardiogram showed marked and asymmetric hypertrophy with normal systolic function. Cardiac magnetic resonance finally confirmed the suspicion of HCM with marked septal fibrosis. In the setting of autosomal dominant HCM coexisting with Wolf-Parkinson-White syndrome, one of the most significant genetic syndrome is PRKAG2-syndrome (PS).
 
 
 
 PS represents a rare phenocopy of the classic form of HCM distinguished by ventricular pre-excitation and often accompanied by advanced heart blocks, due to the marked septal fibrosis involving the conduction system. In the presented case, the diagnosis has been then confirmed by genetic testing. What would be the best therapeutic approach in the prevention of SCD? Can subcutaneous defibrillator implantation (S-ICD) be sufficient?
