[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].
A 10-year-old child was hospitalized for bradycardia during a viral infection with chikungunya. His history showed unexplored episodes of bradycardia. Cardiologic explorations revealed cardiac sinus node dysfunction (SD). Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants. Five years later, the child underwent a pacemaker insertion after an electrophysiological study performed during an atrial flutter access.
Service de réanimation néonatale et pédiatrique, CHU groupe hospitalier Sud, avenue du Président François-Mitterand, 97410 Saint-Pierre, Réunion. bernardselly@hotmail.com
J-B
JB
Selly
B
B
Boumahni
A
A
Edmar
K
K
Jamal Bey
H
H
Randrianaivo
G
G
Clerici
G
G
Millat
D
D
Caillet
D001919:Bradycardia / Q000209:etiology; D002648:Child; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D012804:Sick Sinus Syndrome / Q000175:diagnosis / Q000235:genetics*
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human