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Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of TTR V142I with Heart Failure and/or Arrhythmia
Kaniper, Scott Lynch, Dorret Owens, Samuel M. Ibric, Larisa Vabishchevich, Yuliya Nyantakyi, Nana Chun, Fan Sam, Lionel Fabrizio, Carly Hamad, Eman
Kaniper, Scott
Lynch, Dorret
Owens, Samuel M.
Ibric, Larisa
Vabishchevich, Yuliya
Nyantakyi, Nana
Chun, Fan
Sam, Lionel
Fabrizio, Carly
Hamad, Eman
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Journal article
Date
2024-02-29
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Medical Genetics and Molecular Biochemistry
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https://doi.org/10.3390/jpm14030271
Abstract
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive systemic disease involving the extracellular deposition of misfolded transthyretin protein. The hereditary subtype is caused by mutations in the transthyretin (TTR) gene. An estimated 2–3% of individuals of African American (AA) ancestry carry the p.Val142Ile (V142I, also referred to as V122I) TTR pathogenic variant. The non-specific clinical nature of ATTR-CM makes it challenging to diagnose clinically, and the high allele frequency of TTR V142I suggests that many patients with hereditary ATTR-CM may not have been tested. An analysis of electronic health record data from over 13,000 AA patients with a diagnostic code for heart disease or arrhythmia who also had additional amyloidrelated findings were not diagnosed with amyloidosis at higher rates than those with heart failure or arrhythmia who did not have additional amyloid-related clinical diagnoses. Similarly, after genotyping 666 AA patients with heart failure or arrhythmia, TTR V142I carriers appeared to be clinically indistinguishable based on amyloid-related non-cardiac diagnoses from those who did not carry the allele. No additional TTR gene sequence variants were found in the TTR wildtype V142V patients with heart failure or arrhythmia who had additional amyloid-related diagnoses. Genetic testing for ATTR-CM may be important for timely diagnosis.
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Kaniper, S.; Lynch, D.; Owens, S.M.; Ibric, L.; Vabishchevich, Y.; Nyantakyi, N.; Chun, F.; Sam, L.; Fabrizio, C.; Hamad, E.; et al. Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of TTR V142I with Heart Failure and/or Arrhythmia. J. Pers. Med. 2024, 14, 271. https://doi.org/10.3390/jpm14030271
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Journal of Personalized Medicine, Vol. 14, Iss. 3
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