1.
Cardiol Young
; 33(12): 2628-2631, 2023 Dec.
Article
in English
| MEDLINE
| ID: mdl-37092670
ABSTRACT
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.
Subject(s)
Cardiomyopathy, Hypertrophic , Humans , Child, Preschool , Cardiomyopathy, Hypertrophic/complications , Cardiomyopathy, Hypertrophic/diagnosis , Cardiomyopathy, Hypertrophic/genetics , Mutation , Death, Sudden, Cardiac/etiology , Disease Progression , Prognosis
2.
Pediatr Neonatol
; 63(6): 661-662, 2022 11.
Article
in English
| MEDLINE
| ID: mdl-35927183