INTRODUCTION: We recently identified a novel mutation of @entity1788 ( @entity70035 ) in a large family with features of both @entity25930 and the @entity1789 . The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing @entity944 in this family. METHODS AND RESULTS: The study group consisted of 116 adult family members: 60 carriers (29 males) and 56 noncarriers (28 males) of the mutant gene. Investigations included 24-hour Holter monitoring, ergometry, and electrophysiologic studies. Mean, lowest, and highest heart rate were lower in the carriers, but heart rate variability was comparable. In carriers, @entity1162 was present during @entity1168 . No complex @entity1540 was recorded, and there were fewer isolated premature beats (both ventricular and atrial) in carriers. All @entity1 were asymptomatic, except for two individuals who experienced @entity1163 ; in one of these @entity1 , @entity1167 episodes (up to 9 sec) were repeatedly recorded. Prolonged HV intervals were present in 5 of 6 @entity1 . Thirty carriers received a prophylactic backup pacemaker. During median follow-up of 4.5 years (range 0.0 to 22.6), their survival rate was 100%. There were five sudden deaths among the remaining 30 carriers without a pacemaker (P = 0.019). CONCLUSION: This family with a high incidence of nocturnal @entity944 is characterized by @entity1162 , @entity1817 , and generalized conduction abnormalities. There is a striking absence of complex @entity1540 , and pacemaker implantation was effective in preventing @entity944 . These findings raise the possibility of a bradycardic rather than tachycardic mode of @entity204 .

Possible XXXX and successful pacemaker treatment in a large family with features of @entity25930 and @entity1789 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity1789 :: ('MESH:D053840', 'Disease') :: ['Brugada syndrome'] @entity1788 :: ('6331', 'Gene') :: ['SCN5A'] @entity944 :: ('MESH:D003645', 'Disease') :: ['sudden death'] @entity1163 :: ('MESH:D013575', 'Disease') :: ['syncope'] @entity1817 :: ('MESH:D012804', 'Disease') :: ['intrinsic sinus node dysfunction'] @entity70035 :: ('p|INS|1795|D', 'DNAMutation') :: ['1795insD'] @entity25930 :: ('MESH:C537034', 'Disease') :: ['long QT syndrome type 3'] @entity1540 :: ('MESH:D018879', 'Disease') :: ['ventricular ectopy'] @entity1162 :: ('MESH:D008133', 'Disease') :: ['disproportional QT prolongation', 'bradycardia-dependent QT prolongation'] @entity1167 :: ('MESH:D006323', 'Disease') :: ['asystolic'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity1168 :: ('MESH:D001919', 'Disease') :: ['bradycardia']
@entity204 :: (MESH:D003643,Disease) :: ['bradycardic mode of death']
