{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T07:03:20Z","timestamp":1784617400685,"version":"3.55.0"},"reference-count":20,"publisher":"BMJ","issue":"8","funder":[{"name":"NIH","award":["NIH K08HL133491"],"award-info":[{"award-number":["NIH K08HL133491"]}]},{"name":"NIH","award":["NIH R03HL157012"],"award-info":[{"award-number":["NIH R03HL157012"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,5,6]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Positron emission tomography-CT (PET-CT) is widely used to diagnose cardiac sarcoidosis (CS). Emerging evidence suggests genetic arrhythmogenic cardiomyopathies (ACMs) may similarly present with episodes of myocardial inflammation resembling CS. We hypothesise a high rate of ACM diagnosis and associated pathogenic variants in patients with positive cardiac PET-CT scans referred for genetic testing. This study also seeks to delineate the role of PET-CT and anti-inflammatory therapy in ACM.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Patients at the UCLA Cardiovascular Genetics Clinic who underwent a cardiomyopathy gene panel were included. Genotypes were classified as genotype-positive (pathogenic or likely pathogenic variants), uncertain (variant of uncertain significance) or negative. Genes were grouped into ACM or non-ACM. PET-CT positivity was defined by cardiac fludeoxyglucose uptake without extracardiac involvement.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among 48 patients receiving PET-CT scans, 48% (23\/48) were genotype-positive. Of 268 patients with pathogenic\/likely pathogenic variants, 23 (8.6%) underwent PET-CT (11 ACM, 12 non-ACM). PET-CT positivity was observed in 27% (3\/11) of ACM and 8% (1\/12) of non-ACM cases. Two PET-CT-positive patients (<jats:italic>FLNC<\/jats:italic>, <jats:italic>MYH7<\/jats:italic>) received steroids with variable outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Receiving a PET-CT scan yielded a high genetic diagnostic yield (48%) in our clinic. Randomised controlled trials of immunosuppressive responsiveness and novel therapeutics are needed to address treatment gaps for ACM.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2025-110626","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T05:01:04Z","timestamp":1747890064000},"page":"523-527","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Incidence of positive genetic testing among patients referred for cardiac positron emission tomography"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9351-9834","authenticated-orcid":false,"given":"Kathleen","family":"Trinh","sequence":"first","affiliation":[{"name":"University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annika","family":"Dries","sequence":"additional","affiliation":[{"name":"University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Boulier","sequence":"additional","affiliation":[{"name":"University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7348-0509","authenticated-orcid":false,"given":"Jessica","family":"Wang","sequence":"additional","affiliation":[{"name":"University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"2025101710103260000_62.8.523.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2018.03.004"},{"key":"2025101710103260000_62.8.523.2","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1161\/CIRCGEN.123.004099","article-title":"Cardiac Sarcoidosis Mimickers: Genetic Testing in Undifferentiated Inflammatory Cardiomyopathies","volume":"16","author":"Castrichini","year":"2023","journal-title":"Circ Genom Precis Med"},{"key":"2025101710103260000_62.8.523.3","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.jacc.2022.10.021","article-title":"Genetic Cardiomyopathy Masquerading as Cardiac Sarcoidosis","volume":"81","author":"Lal","year":"2023","journal-title":"J Am Coll 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