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Según publica “Journal of the Americal Medical Assotiación” (JAMA), los autores realizaron pruebas genéticas sobre 430 pacientes de LQTS y 1.115 de sus parientes en busca de mutaciones relacionadas con el trastorno.
Identificaron 235 mutaciones distintas, incluidas 138 nuevas, en 310 (72%) de los 430 pacientes. El equipo confirmó sus hallazgos buscando las mutaciones en un grupo separado de 75 pacientes de SQTL.
Investigadores de la Fundación S. Maugeri de Pavía (Italia) aseguran que han desarrollado una nueva prueba basada en genes para el síndrome de QT largo (SQTL), afección cardiaca que puede predisponer a arritmias cardíacas y muerte súbita.
“Hemos desarrollado un enfoque para mejorar la eficacia de la evaluación genética del SQTL", han asegurado los investigadores. El nuevo método podría facilitar el acceso a pruebas genéticas a un grupo más amplio de personas, como aquellos pacientes que reciben medicamentos para prolongar el intervalo de SQTL, los parientes de personas con fibrilación ventricular idiopática y, según los resultados de investigaciones posteriores, algunos miembros de la comunidad en general para definir la prevalencia de variantes genética de SQTL.
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Fondazione S. Maugeri
JAMA