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A Case Report of a Rare Heterozygous Variant in the Desmin Gene Associated With Hypertrophic Cardiomyopathy and Complete Atrioventricular Block.
Oka, Hideharu; Nakau, Kouichi; Imanishi, Rina; Furukawa, Takuo; Tanabe, Yasuko; Hirono, Keiichi; Hata, Yukiko; Nishida, Naoki; Azuma, Hiroshi.
Afiliação
  • Oka H; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
  • Nakau K; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
  • Imanishi R; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
  • Furukawa T; Department of Pediatrics, Asahikawa City Hospital, Asahikawa, Japan.
  • Tanabe Y; Department of Cardiology, Asahikawa Medical University, Asahikawa, Japan.
  • Hirono K; Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.
  • Hata Y; Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan.
  • Nishida N; Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan.
  • Azuma H; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
CJC Open ; 3(9): 1195-1198, 2021 Sep.
Article em En | MEDLINE | ID: mdl-34712946
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is the primary cause of sudden cardiac death in children and adolescents. Patients with HCM frequently have ventricular tachycardia and ventricular fibrillation, although complete atrioventricular block (CAVB) is very rare. We report a case of HCM with CAVB in an 8-year-old girl who underwent transvenous implantable cardioverter-defibrillator placement after resuscitation. In this patient, we identified a de novo heterozygous missense variant, Arg406Trp (c.1216C > T), in the desmin (DES) gene. Pathogenic variants in the DES gene result in cardiomyopathy, conduction disorders, and skeletal muscle weakness. This recently identified variant may cause HCM with CAVB.
La cardiomyopathie hypertrophique (CMH) est la première cause de mort subite d'origine cardiaque chez les enfants et les adolescents. Les patients atteints de CMH présentent fréquemment une tachycardie ventriculaire et une fibrillation ventriculaire, bien que le bloc auriculo-ventriculaire complet (BAVC) soit très rare. Nous rapportons un cas de CMH avec BAVC chez une fillette de 8 ans qui a reçu un défibrillateur cardioverteur implantable par voie transveineuse après réanimation. Chez cette patiente, nous avons isolé un variant faux sens hétérozygote de novo, Arg406Trp (c.1216C > T), dans le gène de la desmine (DES). Les variants pathogènes du gène DES entraînent une cardiomyopathie, des troubles de la conduction et une faiblesse des muscles squelettiques. Ce variant récemment identifié peut causer une CMH avec BAVC.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article