Frontiers in Cardiovascular Medicine (Jan 2022)

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

  • Jamie O. Yang,
  • Hapet Shaybekyan,
  • Hapet Shaybekyan,
  • Yan Zhao,
  • Yan Zhao,
  • Xuedong Kang,
  • Xuedong Kang,
  • Gregory A. Fishbein,
  • Negar Khanlou,
  • Juan C. Alejos,
  • Nancy Halnon,
  • Gary Satou,
  • Reshma Biniwale,
  • Hane Lee,
  • Hane Lee,
  • Glen Van Arsdell,
  • Stanley F. Nelson,
  • Stanley F. Nelson,
  • Stanley F. Nelson,
  • Stanley F. Nelson,
  • Marlin Touma,
  • Marlin Touma,
  • Marlin Touma,
  • Marlin Touma,
  • Marlin Touma,
  • Marlin Touma,
  • Marlin Touma,
  • the UCLA Clinical Genomics Center,
  • the UCLA Congenital Heart Defects-BioCore Faculty

DOI
https://doi.org/10.3389/fcvm.2021.798985
Journal volume & issue
Vol. 8

Abstract

Read online

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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