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El primer caso de un niño caucásico con calmodulinopatía relacionado con la mutación CALM2 N98S

Giacomo Buratti¹, Dhivya Elango¹, Ahmed Shakir Mohammed¹

¹Paediatrics, https://ror.org/03b2b5383Diana Princess of Wales Hospital, UK.

Cardiology in the young

|February 10, 2026

Resumen

Una rara mutación genética, CALM2 p. Asn98Ser, causó un paro cardíaco en una niña después de un estrés emocional. Este caso destaca los desafíos en el diagnóstico y el manejo de la calmodulinopatía, una afección que afecta el ritmo cardíaco.

Área de la Ciencia:

Cardiología Cardiología.
Genética La genética.
La pediatría es la medicina de los niños.

Sus antecedentes:

La calmodulinopatía es un grupo de trastornos genéticos que afectan el ritmo cardíaco.
Las mutaciones en el gen CALM2 son una causa conocida de calmodulinopatía.
El paro cardíaco repentino puede ser provocado por el estrés emocional.

Objetivo del estudio:

Para reportar el primer caso pediátrico caucásico de CALM2 p. Asn98Ser.
Para describir la presentación clínica y el manejo de esta rara condición cardíaca genética.
Para resaltar los desafíos de diagnóstico y gestión en la calmodulinopatía.

Principales métodos:

Informe de caso de una mujer caucásica de 2 años.
Análisis del ritmo cardíaco durante un paro cardíaco fuera del hospital.
Revisión de los hallazgos diagnósticos, incluidos los intervalos QT y la evaluación estructural del corazón.

Principales resultados:

El paciente presentó un paro cardíaco extrahospitalario después de un estrés emocional.
El ritmo cardíaco inicial fue taquicardia de amplio complejo, que progresó a fibrilación ventricular.
Los intervalos QT normales y la ausencia de enfermedad cardíaca estructural sugieren una presentación parecida a la taquicardia ventricular polimórfica catecolaminérgica (CPVT).

Conclusiones:

CALM2 p. Asn98Ser es una rara causa genética de paro cardíaco en niños.
La calmodulinopatía puede imitar otras afecciones cardíacas como la CPVT, lo que plantea desafíos de diagnóstico.
El reconocimiento temprano y el manejo adecuado son cruciales para los pacientes con calmodulinopatía.

Palabras clave:

CALM2 N98S Es el mismo.La calmodulinopatía es una calmodulinopatía.La mutación genética es una mutación genética.arritmias pediátricas en niños.Se produjo un paro cardíaco repentino.

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