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JAMA Cardiology Diagnostic Test Interpretation
May 12, 2021

Transthyretin Genetic Testing

Author Affiliations
  • 1Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 2Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 3Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 4Associate Editor for Translational Science, JAMA Cardiology
JAMA Cardiol. Published online May 12, 2021. doi:10.1001/jamacardio.2021.0835

A 40-year-old woman recently participated in a research study that incidentally identified a pathogenic variant in the transthyretin (TTR) (OMIM 176300) gene. She was reported to have a single heterozygous nucleotide variant leading to substitution of serine for tyrosine at amino acid position 97 (Ser97Tyr, SNP rs267607161). The patient is of European descent, and her medical history was notable for carpal tunnel syndrome. She was asymptomatic from a cardiopulmonary standpoint. She reported no family history of amyloidosis, but her paternal grandfather died of heart disease at age 52 years. Her physical examination results showed a blood pressure of 112/76 mm Hg and heart rate of 79/min. Her cardiovascular examination results were unremarkable, with a jugular venous pressure of 5 cm H2O, no lower extremity edema, and normal heart sounds.

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