1.
Cardiol Young
; 33(12): 2628-2631, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37092670
RESUMO
Although hypertrophic cardiomyopathy has a reported prevalence of 1/500, compound, double, and triple mutations are infrequent. There is phenotypic variation between individuals with HCM, making disease course difficult to predict. There is some debate as to whether multiple mutations confer a worse prognosis and the extent to which the mutations affect an individual's prognosis. We report a case of homozygous MYBPC3 mutations in a 2-year-old presenting with aborted sudden cardiac death and a severe form of hypertrophic cardiomyopathy.
Assuntos
Cardiomiopatia Hipertrófica , Humanos , Pré-Escolar , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genética , Mutação , Morte Súbita Cardíaca/etiologia , Progressão da Doença , Prognóstico
2.
Pediatr Neonatol
; 63(6): 661-662, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35927183