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Peer-reviewedCC BY-NC-ND 4.0JACC Case Reports

A Phenotype Risk Score–Triggered E-Visit Pathway to Capture TTR V142I in a Heart Failure Population

  • James W. Johnson1
  • Deepa Sarkar2
  • Isabelle Kornblau3,4
  • Juhyun R. Baik3
  • Melanie Besculides4
  • Abena Gyasi3
  • Naomi So4
  • Noura S. Abul-Husn1,2,5
  • Vikas Pejaver2,6,7
  • Amy R. Kontorovich2,3,8
8 affiliations
  1. 1Department of Medicine, Mount Sinai Hospital, New York, New York, USA
  2. 2Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA
  3. 3The Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA
  4. 4Icahn School of Medicine at Mount Sinai, New York, New York, USA
  5. 523andMe Research Institute, Palo Alto, California, USA
  6. 6Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
  7. 7Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA
  8. 8Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA
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Abstract

Background: Variant transthyretin amyloidosis (ATTRv) is an underdiagnosed cause of heart failure (HF), typically identified at later disease stages. The TTR p.Val142Ile (V142I) variant, found in ∼4% of African American (AA) individuals, is the most common cause of ATTRv in the United States and delayed diagnoses contribute to health disparities.

Project Rationale: Genetic testing is a guideline-directed step in diagnosing ATTRv but is performed in only ∼6% of patients. Improving identification of at-risk patients through genetic testing should accelerate diagnosis.

Project Summary: A novel phenotype risk score (PheRS) that identifies patients at increased likelihood of harboring V142I is implemented in a health system. Using data from the electronic health records of AA patients ≥60 years old with HF, high-risk PheRS scores trigger clinician alerts recommending genetic testing through a new asynchronous, message-only (E-visit) pathway.

Take-Home Message: A disease-specific PheRS paired with clinician prompts and a digital genetics care pathway can expedite genetic diagnoses in patients with HF at risk for ATTRv.

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Cite

BibTeXRIS
BibTeX
@article{johnson2026phenotype,
  title = {{A Phenotype Risk Score–Triggered E-Visit Pathway to Capture TTR V142I in a Heart Failure Population}},
  author = {James W. Johnson and Deepa Sarkar and Isabelle Kornblau and Juhyun R. Baik and Melanie Besculides and Abena Gyasi and Naomi So and Noura S. Abul-Husn and Vikas Pejaver and Amy R. Kontorovich},
  journal = {JACC Case Reports},
  year = {2026},
  month = sep,
  doi = {10.1016/j.jaccas.2026.110259},
  url = {https://doi.org/10.1016/j.jaccas.2026.110259},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - A Phenotype Risk Score–Triggered E-Visit Pathway to Capture TTR V142I in a Heart Failure Population
AU  - James W. Johnson
AU  - Deepa Sarkar
AU  - Isabelle Kornblau
AU  - Juhyun R. Baik
AU  - Melanie Besculides
AU  - Abena Gyasi
AU  - Naomi So
AU  - Noura S. Abul-Husn
AU  - Vikas Pejaver
AU  - Amy R. Kontorovich
PY  - 2026
DA  - 2026/09/16
JO  - JACC Case Reports
DO  - 10.1016/j.jaccas.2026.110259
UR  - https://doi.org/10.1016/j.jaccas.2026.110259
AB  - Background: Variant transthyretin amyloidosis (ATTRv) is an underdiagnosed cause of heart failure (HF), typically identified at later disease stages. The TTR p.Val142Ile (V142I) variant, found in ∼4% of African American (AA) individuals, is the most common cause of ATTRv in the United States and delayed diagnoses contribute to health disparities.  Project Rationale: Genetic testing is a guideline-directed step in diagnosing ATTRv but is performed in only ∼6% of patients. Improving identification of at-risk patients through genetic testing should accelerate diagnosis.  Project Summary: A novel phenotype risk score (PheRS) that identifies patients at increased likelihood of harboring V142I is implemented in a health system. Using data from the electronic health records of AA patients ≥60 years old with HF, high-risk PheRS scores trigger clinician alerts recommending genetic testing through a new asynchronous, message-only (E-visit) pathway.  Take-Home Message: A disease-specific PheRS paired with clinician prompts and a digital genetics care pathway can expedite genetic diagnoses in patients with HF at risk for ATTRv.
SN  - 2666-0849
ER  -