{
  "abstract": "Background 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.Methods 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.Results 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 ( FLNC, MYH7) received steroids with variable outcomes.Conclusion 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.",
  "authors": [
    {
      "affiliations": [
        "University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"
      ],
      "name": "Kathleen Trinh"
    },
    {
      "affiliations": [
        "University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"
      ],
      "name": "Annika Dries"
    },
    {
      "affiliations": [
        "University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"
      ],
      "name": "Kristin Boulier"
    },
    {
      "affiliations": [
        "University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA"
      ],
      "name": "Jessica Wang"
    }
  ],
  "title": "Incidence of positive genetic testing among patients referred for cardiac positron emission tomography",
  "uid": "cf1a9158-f79c-5b22-9375-b44ed51da9ba"
}