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

James W Johnson¹, Deepa Sarkar², Isabelle Kornblau³, Juhyun R Baik⁴, Melanie Besculides⁵, Abena Gyasi⁴, Naomi So⁵, Noura S Abul-Husn⁶, Vikas Pejaver⁷, Amy R Kontorovich⁸

¹Department of Medicine, Mount Sinai Hospital, New York, New York, USA.

²Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

³The 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.

⁴The Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

⁵Icahn School of Medicine at Mount Sinai, New York, New York, USA.

⁶Department 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; 23andMe Research Institute, Palo Alto, California, USA.

⁷Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, 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.

⁸Institute 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; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: amy.kontorovich@mountsinai.org.

PubMed DOI

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-…

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