A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholomine induced polymorphic ventricular tachycardia in Bedouin families from Israel

The Authors studied a Bedouin tribe in the north of Israel afflicted by an autosomal form of catecholamine induced polymorphic ventricular tachycardia (PVT). Parents in these families are always consanguinously related and asymptomatic. During the last decade 9 children belonging to the afflicted families have died suddenly. An additional number of 12 children have recurrent syncope and seizure, always following exercise or excitement. All patients were treated with propranolol 120±40 mg/day. A 22-year female patient, treated with 300 μg/day continuing to suffer from episodes of syncope, was treated with an implantable defibrillator. The mechanism responsible for PVT in the Bedouin families is still not known. Future identification of the gene calsequestrin 2 (CASQ2) in other families with this disorder will provide a definite link between the mutation and the clinical manifestation in this tube.