{
  "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.\n\nProject 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.\n\nProject 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.\n\nTake-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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medicine, Mount Sinai Hospital, New York, New York, USA",
    "Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA",
    "The Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA",
    "Icahn School of Medicine at Mount Sinai, New York, New York, USA",
    "23andMe Research Institute, Palo Alto, California, USA",
    "Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA",
    "Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA",
    "Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "James W. Johnson"
    },
    {
      "affs": [
        1
      ],
      "name": "Deepa Sarkar"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Isabelle Kornblau"
    },
    {
      "affs": [
        2
      ],
      "name": "Juhyun R. Baik"
    },
    {
      "affs": [
        3
      ],
      "name": "Melanie Besculides"
    },
    {
      "affs": [
        2
      ],
      "name": "Abena Gyasi"
    },
    {
      "affs": [
        3
      ],
      "name": "Naomi So"
    },
    {
      "affs": [
        0,
        1,
        4
      ],
      "name": "Noura S. Abul-Husn"
    },
    {
      "affs": [
        1,
        5,
        6
      ],
      "name": "Vikas Pejaver"
    },
    {
      "affs": [
        1,
        2,
        7
      ],
      "name": "Amy R. Kontorovich"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/be37cn8992922.bib",
  "cited_by": 0,
  "doi": "10.1016/j.jaccas.2026.110259",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13728365/",
  "id": "be37cn8992922",
  "issns": [
    "2666-0849"
  ],
  "landing_url": "https://doi.org/10.1016/j.jaccas.2026.110259",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Outcomes and Quality"
    ],
    [
      "heading",
      "Quality Improvement Projects"
    ],
    [
      "openalex",
      "2724|Amyloidosis: Diagnosis, Treatment, Outcomes"
    ]
  ],
  "openalex": "W7213428129",
  "pdf_url": null,
  "pmcid": "PMC13728365",
  "pmid": "42752044",
  "published": "2026-09-16",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/be37cn8992922.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:21:22Z",
      "native_id": "PMC13728365",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.jaccas.2026.110259"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "journal-openalex:2705|Cardiac Valve Diseases and Treatments",
      "subfield": "cardiovascular"
    }
  ],
  "title": "A Phenotype Risk Score–Triggered E-Visit Pathway to Capture TTR V142I in a Heart Failure Population",
  "title_text": "A Phenotype Risk Score–Triggered E-Visit Pathway to Capture TTR V142I in a Heart Failure Population",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:22Z",
  "url": "https://research.draconitic.com/paper/be37cn8992922",
  "venue": "JACC Case Reports",
  "versions": []
}