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Genética de la Muerte Cardíaca Súbita

Martina Lovrić Benčić¹, Rea Levicki²

¹Department of Cardiovascular Diseases, University Hospital Centre Zagreb, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.

Diseases (Basel, Switzerland)

|January 27, 2026

Resumen

Las variantes genéticas aumentan significativamente el riesgo de muerte súbita cardíaca (MSC) en personas jóvenes. El cribado genético y la intervención temprana son cruciales para los trastornos cardíacos hereditarios y las miocardiopatías.

Área de la Ciencia:

Genética Cardiovascular
Cardiología Molecular
Genómica

Sus antecedentes:

Las miocardiopatías (dilatada, hipertrófica, arritmogénica) y los trastornos primarios arritmogénicos son las principales causas de muerte súbita cardíaca (MSC) en personas jóvenes.
Los estudios de asociación del genoma completo (GWAS) han identificado numerosas variantes genéticas relacionadas con enfermedades cardiovasculares.
Las pruebas genéticas para estas afecciones suelen implicar pruebas de panel de genes con asociaciones de enfermedades establecidas.

Objetivo del estudio:

Revisar los fundamentos genéticos de las miocardiopatías y las canalopatías hereditarias.
Destacar la asociación entre variantes genéticas específicas y un mayor riesgo de MSC.
Enfatizar la importancia del cribado genético y la intervención temprana.

Principales métodos:

Revisión de las estrategias de pruebas genéticas para miocardiopatías y canalopatías hereditarias.
Análisis de variantes genéticas en genes que codifican proteínas del sarcómero, del citoesqueleto, desmosomales y de la envoltura nuclear.
Identificación de variantes comunes asociadas con la MSC en genes que codifican canales iónicos cardíacos, calmodulina, proteínas del sarcómero y proteínas desmosomales.

Principales resultados:

Variantes genéticas específicas se asocian significativamente con un mayor riesgo de MSC.
Se encuentran variantes comunes relacionadas con la MSC en genes como SCN5A, KCNQ1, KCNH2, CALM2, MYH7, MYBPC3, TTN, TNNI3, RyR2 y DES.
Los cardiomiocitos expresan proteínas cruciales para la patogénesis de las miocardiopatías genéticas y las canalopatías hereditarias.

Conclusiones:

Las variantes genéticas desempeñan un papel importante en el riesgo de MSC.
El cribado genético y la intervención temprana son vitales para las personas con riesgo de trastornos cardíacos hereditarios.
La investigación futura debe centrarse en la gestión específica de genes y las terapias genéticas dirigidas para reducir la carga de MSC.

Palabras clave:

miocardiopatía genética genética muerte súbita arrítmica muerte súbita cardíaca

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