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Aspectos clínicos del síndrome de QT largo tipo 3: un estudio multicéntrico internacional

Arthur A M Wilde¹, Arthur J Moss², Elizabeth S Kaufman²

¹From AMC Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W., C.R.B.) and Department of Clinical Genetics (N.H., M.A.), Academic Medical Center, Amsterdam, The Netherlands; Cardiology Division of the Department of Medicine (A.J.M., C.L., W.Z., I.G., J.L.R., M.L.A., S.M., B.P.), the Department of Biostatistics (D.R.P.), and the Department of Pathology (M.Q.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, OH (E.S.K.); Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan (W.S.); Department of Cardiology Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (J.A.T.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (C.P. L.C., P.J.S.); Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark (J.K.K.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine (W.S.) and Department of Preventive Cardiology (Y.M.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Molecular Medicine, University of Pavia, Italy (L.C.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.M.W.); and Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., P.J.S.). a.a.wilde@amc.nl.

|August 28, 2016

Resumen

La estratificación del riesgo para el síndrome de QT largo tipo 3 (LQT3) identificó el QTc prolongado y el síncope como riesgos clave. El tratamiento con beta-bloqueantes redujo significativamente los eventos cardíacos en mujeres con LQT3.

Área de la Ciencia:

Cardiología
La genética
Farmacología

Sus antecedentes:

No existe una estratificación del riesgo para el síndrome de QT largo tipo 3 (LQT3) en una gran población.
Los estudios anteriores no han evaluado los factores clínicos, genéticos y de tratamiento en pacientes con LQT3.

Objetivo del estudio:

Investigar los factores de riesgo de eventos cardíacos en pacientes LQT3.
Evaluar la eficacia del tratamiento con beta-bloqueantes en pacientes con LQT3.

Principales métodos:

Análisis de los datos clínicos, electrocardiográficos y genéticos de 406 pacientes LQT3.
Análisis de regresión de Cox para identificar los predictores de los eventos cardíacos (EC).
Evaluación del tratamiento con betabloqueantes dependientes del tiempo en pacientes con LQT3.

Principales resultados:

El 30% de los 391 pacientes de LQT3 experimentaron al menos una EC.
El aumento de la duración del intervalo QTc y el síncope previo se asociaron con un mayor riesgo de EC.
El tratamiento con betabloqueantes redujo las EC en un 83% en las mujeres (P=0,015), pero no de manera concluyente en los hombres.

Conclusiones:

El intervalo QTc prolongado y el síncope son factores de riesgo significativos para las EC que ponen en peligro la vida en el LQT3.
El tratamiento con beta-bloqueantes es eficaz en la reducción de las EC en pacientes femeninas con LQT3.
Debido a los eventos limitados, se necesita más investigación para determinar la eficacia de los betabloqueantes en pacientes masculinos con LQT3.

Palabras clave:

Proteína SCN5A, humana arritmias cardíacas muerte súbita, cardíaca pruebas genéticas Síndrome del intervalo QT largo evaluación del riesgo

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