RT Journal Article
T1 Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
A1 Jiménez-Jáimez, Juan
A1 Palomino Doza, Julián
A1 Ortega, Ángeles
A1 Macías-Ruiz, Rosa
A1 Perin, Francesca
A1 Rodríguez-Vázquez Del Rey, M Mar
A1 Ortiz-Genga, Martín
A1 Monserrat, Lorenzo
A1 Barriales-Villa, Roberto
A1 Blanca, Enrique
A1 Álvarez, Miguel
A1 Tercedor, Luis
K1 Calcio
K1 Calmodulina
K1 Niño
K1 ADN
K1 Muerte súbita cardíaca
K1 Epinefrina
K1 Síndrome de QT prolongado
K1 Mutación
K1 Padres
K1 Penetrancia
K1 España
K1 Taquicardia ventricular
K1 Fibrilación Ventricular
K1 Complejos prematuros ventriculares
AB BACKGROUNDCalmodulin 1, 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. The underlying aetiology described is long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic ventricular fibrillation (IVF). Little phenotypical data about CALM2 mutations is available.OBJECTIVESThe aim of this paper is to describe the clinical manifestations of the Asn98Ser mutation in CALM2 in two unrelated children in southern Spain with apparently unexplained cardiac arrest/death.METHODSTwo unrelated children aged 4 and 7, who were born to healthy parents, were studied. Both presented with sudden cardiac arrest. The first was resuscitated after a VF episode, and the second died suddenly. In both cases the baseline QTc interval was within normal limits. Peripheral blood DNA was available to perform targeted gene sequencing.RESULTSThe surviving 4-year-old girl had a positive epinephrine test for LQTS, and polymorphic ventricular ectopic beats were seen on a previous 24-hour Holter recording from the deceased 7-year-old boy, suggestive of a possible underlying CPVT phenotype. A p.Asn98Ser mutation in CALM2 was detected in both cases. This affected a highly conserved across species residue, and the location in the protein was adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain, predicting a high pathogenic effect.CONCLUSIONSHuman calmodulin 2 mutation p.Asn98Ser is associated with sudden cardiac death in childhood with a variable clinical penetrance. Our results provide new phenotypical information about clinical behaviour of this mutation.
PB Public Library of Science
YR 2016
FD 2016-04-21
LK http://hdl.handle.net/10668/2305
UL http://hdl.handle.net/10668/2305
LA en
NO Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez Del Rey MM, et al. Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders. PLoS ONE. 2016; 11(4):e0153851
NO Journal Article;
DS RISalud
RD Apr 10, 2025