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Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing.

Authors
  • Ripoll-Vera, Tomás1
  • Pérez Luengo, Consuelo2
  • Borondo Alcázar, Juan Carlos3
  • García Ruiz, Ana Belén2
  • Sánchez Del Valle, Nieves2
  • Barceló Martín, Bernardino4
  • Poncela García, Juan Luis2
  • Gutiérrez Buitrago, Gloria2
  • Dasi Martínez, Concepción3
  • Canós Villena, Juan Carlos3
  • Moyano Corvillo, Susana3
  • Esgueva Pallarés, Raquel3
  • Sancho Sancho, Juan Ramón5
  • Guitart Pinedo, Gemma6
  • Hernández Marín, Elena7
  • García García, Estela7
  • Vingut López, Albert7
  • Álvarez Rubio, Jorge8
  • Govea Callizo, Nancy9
  • Gómez Pérez, Yolanda8
  • And 4 more
  • 1 Servicio de Cardiología, Hospital Universitario Son Llàtzer, Palma de Mallorca, Islas Baleares, Spain; Instituto de Investigación Sanitaria de Baleares (IdISBa), Palma de Mallorca, Islas Baleares, Spain. Electronic address: [email protected] , (Spain)
  • 2 Instituto de Medicina Legal de las Islas Baleares, Palma de Mallorca, Islas Baleares, Spain. , (Spain)
  • 3 Servicio de Histopatología, Instituto Nacional de Toxicología y Ciencias Forenses, Barcelona, Spain. , (Spain)
  • 4 Instituto de Investigación Sanitaria de Baleares (IdISBa), Palma de Mallorca, Islas Baleares, Spain; Servicio de Análisis Clínicos y Toxicología, Hospital Universitario Son Espases, Palma de Mallorca, Islas Baleares, Spain. , (Spain)
  • 5 Instituto de Medicina Legal Islas Baleares, Ibiza, Islas Baleares, Spain. , (Spain)
  • 6 Instituto de Medicina Legal Islas Baleares, Menorca, Islas Baleares, Spain. , (Spain)
  • 7 Servicio de Química, Instituto Nacional de Toxicología y Ciencias Forenses, Barcelona, Spain. , (Spain)
  • 8 Servicio de Cardiología, Hospital Universitario Son Llàtzer, Palma de Mallorca, Islas Baleares, Spain; Instituto de Investigación Sanitaria de Baleares (IdISBa), Palma de Mallorca, Islas Baleares, Spain. , (Spain)
  • 9 Instituto de Investigación Sanitaria de Baleares (IdISBa), Palma de Mallorca, Islas Baleares, Spain; Sección de Genética, Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Palma de Mallorca, Islas Baleares, Spain. , (Spain)
  • 10 Instituto de Investigación Sanitaria de Baleares (IdISBa), Palma de Mallorca, Islas Baleares, Spain; Servicio de Medicina Intensiva, Hospital Universitario Son Llàtzer, Palma de Mallorca, Islas Baleares, Spain. , (Spain)
Type
Published Article
Journal
Revista espanola de cardiologia (English ed.)
Publication Date
May 01, 2021
Volume
74
Issue
5
Pages
402–413
Identifiers
DOI: 10.1016/j.rec.2020.03.030
PMID: 32917565
Source
Medline
Keywords
Language
Spanish
License
Unknown

Abstract

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. 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. 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. 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. Copyright © 2020 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

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