Hamartoma of mature cardiomyocytes presenting with atypical angina, 18F-fluorodeoxyglucose positron emission tomography uptake, and myocardial bridging: a case report

Aim Hamartoma of mature cardiomyocytes is a rare tumor and the present case shows a complex diagnostic pathway to understand its nature and treatment options in a young patient. The myocardial bridge was also part of the clinical evaluation discovered during the diagnostic workout. Methods and results A 27-year-old woman with atypical chest pain and a normal electrocardiogram received the diagnosis of neoformation of the interventricular septum with F-18-fluorodeoxyglucose (F-18-FDG) uptake, and evidence of myocardial bridging on coronary angiography. On suspicion of malignancy, coronary unroofing and surgical biopsy was performed. The final diagnosis was hamartoma of mature cardiomyocytes. Conclusion This case offers great insight into medical reasoning and decision-making process. Given the history of chest pain, the patient was evaluated for possible ischemic, embolic, or vascular causes. Given a left ventricular wall thickness >= 15 mm, hypertrophic cardiomyopathy (HCM) should always be suspected; nuclear magnetic resonance imaging is essential to distinguish between HCM. The magnetic resonance imaging is also critical in distinguishing HCM itself from tumoral phenocopies. To rule out a neoplastic process, F-18-FDG positron emission tomography (PET) was used. A surgical biopsy was performed, and the final diagnosis was completed after the immune-histochemistry study. A myocardial bridge was found during preoperative coronagraphy and was treated accordingly.

Automated summary

This is a rare case of mature cardiomyocyte hamartoma in a young patient, with a complex diagnostic pathway to understand its nature and treatment options. Myocardial bridge was also discovered during the diagnostic process. The final diagnosis was confirmed through coronary unroofing and surgical biopsy.