BACKGROUND: Catecholaminergic polymorphic @entity1165 (PVT) is characterized by episodes of @entity1163 , @entity410 , or @entity944 in response to physiological or emotional stress. In 2 families with autosomal dominant inheritance, the disease gene was mapped to chromosome 1q42-43. The objectives of this study were to characterize the clinical features of the disease in a Bedouin tribe from Israel and to map the disease gene. METHODS AND RESULTS: In this Bedouin tribe, 9 @entity1 (age, 7+/-4 years) from 7 related families have died suddenly during the past decade, and 12 other @entity1 suffered from recurrent @entity410 starting at the age of 6+/-3 years. Parents of affected individuals were asymptomatic and were all related (first-, second-, or third-degree cousins). Segregation analysis suggested autosomal recessive inheritance. All 12 symptomatic @entity1 and 1 asymptomatic sibling (mean age, 13+/-7 years) were found to have a relative resting @entity1168 (64+/-13 bpm, versus 93+/-12 bpm in the unaffected siblings), as well as PVT induced by treadmill or @entity3044 infusion and appearing at a mean sinus rate of 110+/-10 bpm. @entity1 responded favorably to treatment with beta-blockers. A genome-wide search using polymorphic DNA markers mapped the disease locus to a 16-megabase interval on chromosome 1p13-21. A maximal lod score of 8.24 was obtained with D1S189 at theta=0.00. Sequencing of @entity30354 , a gene that encodes an I(tO) @entity972 channel transporter, did not reveal any significant sequence alterations. CONCLUSIONS: This unique form of autosomal recessive PVT affects young @entity1 and may be lethal if left untreated. Linkage analysis maps this disorder to chromosome 1p13-21.

Autosomal recessive catecholamine- or exercise-induced polymorphic XXXX : clinical features and assignment of the disease gene to chromosome 1p13-21.

@entity1 :: ('9606', 'Species') :: ['children', 'Patients', 'patients'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures', 'syncope and seizures'] @entity1165 :: ('MESH:D017180', 'Disease') :: ['ventricular tachycardia'] @entity944 :: ('MESH:D003645', 'Disease') :: ['sudden death'] @entity1163 :: ('MESH:D013575', 'Disease') :: ['syncope'] @entity30354 :: ('3752', 'Gene') :: ['KCND3'] @entity972 :: ('MESH:D011188', 'Chemical') :: ['potassium'] @entity3044 :: ('MESH:D007545', 'Chemical') :: ['isoproterenol'] @entity1168 :: ('MESH:D001919', 'Disease') :: ['bradycardia']
@entity1165 :: (MESH:D017180,Disease) :: ['ventricular tachycardia']
