ABSTRACT
INTRODUCTION AND OBJECTIVES: Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of "molecular autopsy" may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing. METHODS: We performed a prospective study of a cohort of consecutive patients who died from nonviolent SCD, aged ≤ 50 years, and who underwent molecular autopsy using large panels of next-generation sequencing, with subsequent clinical and genetic family screening. We analyzed demographic, clinical, toxicological, and genetic data. RESULTS: We studied 123 consecutive cases of SCD in persons aged ≤ 50 years. The incidence of SCD was 5.8 cases/100 000 individuals/y, mean age was 36.15±12.7 years, and 95 were men (77%). The cause was cardiac in 53%, unexplained SCD in 24%, toxic in 10.6%, and infant SCD in 4%. Among cardiac causes, ischemic heart disease accounted for 38% of deaths, arrhythmogenic cardiomyopathy for 7%, hypertrophic cardiomyopathy for 5%, and idiopathic left ventricular hypertrophy for 11%. Genetic analysis was performed in 62 cases (50.4%). Genetic variants were found in 42 cases (67.7%), with a mean of 3.4±4 genetic variants/patient, and the variant found was considered to be pathogenic or probably pathogenic in 30.6%. In unexplained SCD, 70% showed some genetic variant. Family screening diagnosed 21 carriers or affected individuals, 5 of whom were at risk, indicating an implantable cardiac defibrillator. CONCLUSIONS: Protocol-based and exhaustive study of SCD from cardiac causes in persons aged ≤ 50 years is feasible and necessary. In a high percentage of cases, the cause is genetic, indicating the existence of relatives at risk who could benefit from early diagnosis and treatment to avoid complications.
Subject(s)
Cardiomyopathy, Hypertrophic , Death, Sudden, Cardiac , Adolescent , Adult , Autopsy , Cardiomyopathy, Hypertrophic/genetics , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Female , Genetic Testing , Humans , Infant , Male , Middle Aged , Prospective Studies , Young AdultABSTRACT
La anticoncepción de emergencia consiste en la utilización de un fármaco o dispositivo, con el fin de prevenir un embarazo después de una relación coital desprotegida. Su utilización conlleva un potencial problema de salud en el caso de las usuarias que recurren a este método con asiduidad, debido a prácticas sexuales faltas de responsabilidad. Este artículo presenta un programa de salud dirigido a mujeres que utilizan de forma reiterada anticonceptivos de emergencia, con el objetivo de proporcionarles los conocimientos y las habilidades necesarias en materia afectivo-sexual para que no tengan necesidad de volver a recurrir a este método anticonceptivo. Se proponen cinco sesiones con objetivos específicos, metas operativas e indicadores de evaluación (AU)
Emergency contraception is the use of a drug or device to prevent pregnancy after unprotected sexual relationships. Its use involves a potential health issue in the case of those who use this method very often and frequently in association with irresponsible sexual practices. This article presents a health program aimed at women who use emergency contraception repeatedly, with the aim of providing affective-sexual knowledge and skills which do not require the use of this form of contraception. It involves five sessions with specific objectives, operational goals and indicators for evaluation (AU)
