{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T16:19:19Z","timestamp":1785255559041,"version":"3.55.0"},"reference-count":63,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"23","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2024,12,3]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Diagnosis of hereditary amyloid transthyretin (hATTR) amyloidosis with cardiomyopathy is frequently delayed, in large part because of symptom overlap with other cardiovascular diseases and limited provider knowledge of this disease. The sponsored and provider referred hATTR Compass Genetic Testing Program (Ionis, Carlsbad, CA; Ambry Genetics, Aliso Viejo, CA) provided no\u2010cost genetic testing to adults with a family history or clinical suspicion of hATTR amyloidosis. This study aims to characterize patients with hATTR amyloidosis and increase awareness of genetic testing for hATTR.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Patients were referred to the hATTR genetic testing program, and a cross\u2010sectional post hoc analysis was performed. A pathogenic\n              <jats:italic>TTR<\/jats:italic>\n              variant was identified in 1503 (6.6%) of 22\u2009886 patients referred for genetic testing between June 2018 and March 2022. Patients were identified in all US states, 3 US territories, and Canada. Median age at testing was 63\u2009years, and 44% were female. The p.V142I\n              <jats:italic>TTR<\/jats:italic>\n              variant was the most common (n=1263, 84.0%). Only 32% of patients with a pathogenic\n              <jats:italic>TTR<\/jats:italic>\n              variant reported a known family history; a lower percentage of Black individuals reported a known family history compared with other racial and ethnic groups. Black patients accounted for 23.7% of all patients referred and 81.9% of patients with the p.V142I variant.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              This sponsored genetic testing program identified a large number of patients with a pathogenic\n              <jats:italic>TTR<\/jats:italic>\n              variant, notably, in geographic regions not previously reported, and demographic groups that are historically underrepresented in the literature.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.123.033770","type":"journal-article","created":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T11:38:36Z","timestamp":1732275516000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":13,"title":["Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic 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