Your browser doesn't support javascript.
loading
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Pannone, Luigi; Bisignani, Antonio; Osei, Randy; Gauthey, Anaïs; Sorgente, Antonio; Vergara, Pasquale; Monaco, Cinzia; Della Rocca, Domenico Giovanni; Del Monte, Alvise; Strazdas, Antanas; Mojica, Joerelle; Al Housari, Maysam; Miraglia, Vincenzo; Mouram, Sahar; Paparella, Gaetano; Ramak, Robbert; Overeinder, Ingrid; Bala, Gezim; Almorad, Alexandre; Ströker, Erwin; Pappaert, Gudrun; Sieira, Juan; de Ravel, Thomy; La Meir, Mark; Brugada, Pedro; Chierchia, Gian Battista; Van Dooren, Sonia; de Asmundis, Carlo.
Afiliação
  • Pannone L; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Bisignani A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Osei R; Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium.
  • Gauthey A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Sorgente A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Vergara P; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Monaco C; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Della Rocca DG; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Del Monte A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Strazdas A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Mojica J; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Al Housari M; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Miraglia V; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Mouram S; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Paparella G; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Ramak R; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Overeinder I; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Bala G; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Almorad A; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Ströker E; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Pappaert G; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Sieira J; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • de Ravel T; Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium.
  • La Meir M; Cardiac Surgery Department, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, Brussels, Belgium.
  • Brugada P; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Chierchia GB; Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Laarbeeklaan, 101 1090 Brussels, Belgium.
  • Van Dooren S; Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium.
  • de Asmundis C; Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore), Brussels, Belgium.
Europace ; 25(5)2023 05 19.
Article em En | MEDLINE | ID: mdl-37061847
ABSTRACT

AIMS:

A pathogenic/likely pathogenic (P/LP) variant in SCN5A is found in 20-25% of patients with Brugada syndrome (BrS). However, the diagnostic yield and prognosis of gene panel testing in paediatric BrS is unclear. The aim of this study is to define the diagnostic yield and outcomes of SCN5A gene testing with ACMG variant classification in paediatric BrS patients compared with adults. METHODS AND

RESULTS:

All consecutive patients diagnosed with BrS, between 1992 and 2022, were prospectively enrolled in the UZ Brussel BrS registry. Inclusion criteria were (i) BrS diagnosis; (ii) genetic analysis performed with a large gene panel; and (iii) classification of gene variants following ACMG guidelines. Paediatric patients were defined as ≤16 years of age. The primary endpoint was ventricular arrhythmias (VAs). A total of 500 BrS patients were included, with 63 paediatric patients and 437 adult patients. Among children with BrS, 29 patients (46%) had a P/LP variant (P+) in SCN5A and no variants were found in 34 (54%) patients (P-). After a mean follow-up of 125.9 months, 8 children (12.7%) experienced a VA, treated with implanted cardioverter defibrillator shock. At survival analysis, P- paediatric patients had higher VA-free survival during the follow-up, compared with P+ paediatric patients. P+ status was an independent predictor of VA. There was no difference in VA-free survival between paediatric and adult BrS patients for both P- and P+.

CONCLUSION:

In a large BrS cohort, the diagnostic yield for P/LP variants in the paediatric population is 46%. P+ children with BrS have a worse arrhythmic prognosis.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Brugada Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Brugada Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article