-
Author
Kathleen Trinh -
Discovery PI
Jessica J. Wang, MD, PhD
-
Project Co-Author
Jessica J. Wang, MD, PhD
-
Abstract Title
Incidence of positive cardiac positron emission tomography in genotype-positive patients: a cardiovascular genetics clinic lens
-
Discovery AOC Petal or Dual Degree Program
Bioinformatics & Data Science
-
Abstract
Area of Concentration (Petal): Bioinformatics & Data Science, Basic, Clinical, & Translational Research
Specialty: Cardiology
Keywords: cardiac positron emission tomography (PET), genetic cardiomyopathy, cardiac sarcoidosis
Background: There remains the diagnostic challenge of genetic cardiomyopathies (GNCs) due to its considerable overlap with non-genetic inflammatory cardiomyopathies, such as between arrhythmogenic cardiomyopathy (ACM) and cardiac sarcoidosis (CS). Patients may be given the presumptive diagnosis of CS without histological proof, relying on myocardial inflammation seen on positron emission tomography (PET-CT) and clinical findings alone. Myocardial inflammation is also increasingly implicated in the pathophysiology of GNCs. Given such similarity, it is unsurprising that one condition may masquerade or be misdiagnosed as the other. This investigation seeks to delineate the potential role of PET-CT in the management of GNCs.
Objective: This study assessed the incidence of positive PET-CT among a cohort of GNC patients who have all undergone genetic testing.
Methods: All patients at the UCLA Cardiovascular Genetics Clinic who underwent a cardiomyopathy gene panel were included. Genetic variants classified as pathogenic or likely pathogenic (P/LP) were further divided into ACM or non-ACM gene. Patients were screened for PET-CT scans as part of their cardiac workup. PET-CT positivity was determined by the presence of isolated myocardial FDG uptake.
Results: A total of 320 patients were genotype-positive for a P/LP variant. 28 out of the 320 (8.8%) received a PET-CT scan, divided into 11 with an ACM gene and 17 with a non-ACM gene. Overall, the PET-CT positivity rate among P/LP ACM genes was 27.3% (3 out of 11) and 17.6% (3 out of 17) among P/LP non-ACM genes.
Conclusions: It has not been recommended to perform genetic testing in the setting of inflammatory cardiomyopathies. The detection of isolated cardiac inflammation on PET-CT among genotype-positive patients reinforce the notion that cardiac inflammation in certain individuals may be attributed to an underlying genetic variant. Therefore, for cases of suspected CS based on cardiac PET-CT positivity, we recommend genetic testing.