Population
2 unrelated children in southern Spain with apparently unexplained cardiac arrest/death and normal baseline…
Design
Case_series
Follow-up
2 years (for the surviving proband)
Key result
The CALM2 p.Asn98Ser mutation is associated with sudden cardiac death in childhood, presenting with variable clinical penetrance suggestive of CPVT and LQTS.
Authors
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Warrants CALM2 screening in unexplained pediatric SCD; hypothesis-generating for CPVT/LQTS overlap and requires validation.
Case Report (n=2)
No
The CALM2 p.Asn98Ser mutation is associated with unexplained cardiac arrest in infants due to low clinical penetrance electrical disorders such as CPVT and LQTS.
Jiménez‐Jáimez et al. (2016) conducted a case report in Unexplained cardiac arrest (n=2). CALM2 p.Asn98Ser mutation was evaluated on Identification of genetic mutation causing unexplained cardiac arrest. The CALM2 p.Asn98Ser mutation is associated with sudden cardiac death in childhood, presenting with variable clinical penetrance suggestive of CPVT and LQTS.