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Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy
Raquel Neves1, Andrew S Tseng2, Ramin Garmany3
1Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
Insights
Abnormal myocardial fluorodeoxyglucose (FDG) uptake is common in genetic arrhythmogenic cardiomyopathy (ACM) patients. This finding suggests a significant role for myocardial inflammation in ACM, warranting further investigation with FDG PET scans.
Area of Science:
- Cardiology
- Nuclear Medicine
- Genetics
Background:
- Myocardial inflammation is a key factor in arrhythmogenic cardiomyopathy (ACM) pathogenesis.
- Genetic ACM and inflammatory cardiomyopathy can present with overlapping symptoms.
- Cardiac fluorodeoxyglucose (FDG) positron emission tomography (PET) findings in ACM are not well-defined.
Purpose of the Study:
- To investigate the cardiac FDG PET findings in patients with genetically confirmed arrhythmogenic cardiomyopathy.
- To determine the prevalence and patterns of abnormal myocardial FDG uptake in this patient cohort.
Main Methods:
- Retrospective analysis of genotype-positive ACM patients from the Mayo Clinic ACM registry.
- Inclusion criteria: patients who underwent cardiac FDG PET scan.
- Data extraction included clinical information and FDG PET scan results.
Main Results:
- Twelve out of 323 (4%) genotype-positive ACM patients underwent cardiac FDG PET.
- Fifty percent (6/12) of these patients showed abnormal myocardial FDG uptake.
- Abnormal uptake patterns included diffuse, focal, and patchy patterns, with LMNA-positive patients showing a higher proportion of positive scans.
Conclusions:
- Abnormal myocardial FDG uptake is frequently observed in genetic ACM patients.
- These findings reinforce the involvement of myocardial inflammation in the pathophysiology of ACM.
- Further research is necessary to establish the utility of FDG PET in ACM diagnosis, management, and understanding inflammation's role.
Background:
Myocardial inflammation contributes to the pathogenesis of arrhythmogenic cardiomyopathy (ACM), a clinically and genetically heterogenous disorder. Due to phenotypic overlap, some patients with genetic ACM may be evaluated for an underlying inflammatory cardiomyopathy. However, the cardiac fludeoxyglucose (FDG) positron emission tomography (PET) findings in ACM patients have not been elucidated.
Methods:
All genotype-positive patients in the Mayo Clinic ACM registry (n = 323) who received a cardiac FDG PET were included in this study. Pertinent data were extracted from the medical record.
Results:
Collectively, 12/323 (4%; 67% female) genotype-positive ACM patients received a cardiac PET FDG scan as part of their clinical evaluation (median age at scan 49 ± 13 years). Amongst these patients, pathogenic/likely pathogenic variants were detected in LMNA (n = 7), DSP (n = 3), FLNC (n = 1) and PLN (n = 1). Of note, 6/12 (50%) had abnormal myocardial FDG uptake, including diffuse (entire myocardium) uptake in 2/6 (33%), focal (1-2 segments) uptake in 2/6 (33%) and patchy (3+ segments) in 2/6 (33%). Median myocardial standardized uptake value ratio was 2.1. Interestingly, LMNA-positive patients accounted for 3 out of 6 (50%) positive studies (diffuse uptake in 2 and focal uptake in 1).
Conclusion:
Abnormal myocardial FDG uptake is common in genetic ACM patients undergoing cardiac FDG PET. This study further supports the role of myocardial inflammation in ACM. Further investigation is needed to determine role of FDG PET in diagnosis and management of ACM and investigate the role of inflammation in ACM.
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