Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy

We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in...

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Detalles Bibliográficos
Autores principales: Yang, Jamie O., Shaybekyan, Hapet, Zhao, Yan, Kang, Xuedong, Fishbein, Gregory A., Khanlou, Negar, Alejos, Juan C., Halnon, Nancy, Satou, Gary, Biniwale, Reshma, Lee, Hane, Van Arsdell, Glen, Nelson, Stanley F., Touma, Marlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770926/
https://www.ncbi.nlm.nih.gov/pubmed/35071363
http://dx.doi.org/10.3389/fcvm.2021.798985
Descripción
Sumario:We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.

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