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Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants.
Norrish, Gabrielle; Gasparini, Marisa; Field, Ella; Cervi, Elena; Kaski, Juan Pablo.
Afiliação
  • Norrish G; Centre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, London, UK.
  • Gasparini M; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Field E; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Cervi E; Centre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, London, UK.
  • Kaski JP; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
J Med Genet ; 61(5): 420-422, 2024 Apr 19.
Article em En | MEDLINE | ID: mdl-38296631
ABSTRACT
Up to 20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding for thin-filament proteins. However, data on genotype-phenotype correlations for thin-filament disease are limited. This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease.Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre. Twenty-one (female n=6, 35.5%) were diagnosed with HCM at a median age of 13.0 years (IQR 8.3-14.0). Over a median follow-up of 5.0 years (IQR 4.0-8.5), three (14.3%) experienced one or more major adverse cardiac events (MACE) (two patients had an out-of-hospital arrest and eight appropriate implantable cardiac defibrillator (ICD) therapies in three patients). One gene carrier died suddenly at age 9 years. Compared with those with thick-filament disease, children with thin-filament variants more commonly experienced non-sustained ventricular tachycardia [NSVT; n=6 (28.6%) vs n=14 (10.8%), p=0.024] or underwent ICD insertion (thin, n=13 (61.9%) vs thick, n=50 (38.5%), p=0.040). However, there was no difference in the incidence of MACE (thin 2.47/100 pt years (95% CI 0.80 to 7.66) vs thick 3.63/100 pt years (95% CI 2.25 to 5.84)) or an arrhythmic event (thin 1.65/100 pt years (95% CI 0.41 to 6.58) vs thick 2.55/100 pt years (95% CI 1.45 to 4.48), p value 0.43).This study suggests that adverse events in thin-filament disease are predominantly arrhythmic and may occur in the absence of hypertrophy, but overall short-term outcomes do not differ significantly from thick-filament disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Desfibriladores Implantáveis Limite: Adolescent / Child / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Desfibriladores Implantáveis Limite: Adolescent / Child / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article