Bianchi Giacomo, Zancanaro Edoardo, Pucci Angela, Solinas Marco
Adult Cardiac Surgery Department, Ospedale del Cuore, Fondazione Toscana 'G. Monasterio', Via Aurelia Sud, 54100 Massa, Italy.
Anatomic Pathology and Histopathology, Pisa University Hospital, Via Roma 67, 56100 Pisa, Italy.
Eur Heart J Case Rep. 2023 Feb 14;7(3):ytad077. doi: 10.1093/ehjcr/ytad077. eCollection 2023 Mar.
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.
A 27-year-old woman with atypical chest pain and a normal electrocardiogram received the diagnosis of neoformation of the interventricular septum with F-fluorodeoxyglucose (F-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.
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-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.
成熟心肌细胞错构瘤是一种罕见肿瘤，本病例展示了在一名年轻患者中理解其性质和治疗选择的复杂诊断路径。心肌桥也是在诊断过程中发现的临床评估的一部分。
一名27岁非典型胸痛且心电图正常的女性，经氟脱氧葡萄糖（F-FDG）摄取诊断为室间隔新生物，并在冠状动脉造影时发现心肌桥证据。因怀疑为恶性肿瘤，进行了冠状动脉去顶术和手术活检。最终诊断为成熟心肌细胞错构瘤。
本病例为医学推理和决策过程提供了深刻见解。鉴于胸痛病史，对患者进行了可能的缺血、栓塞或血管病因评估。鉴于左心室壁厚度≥15mm，应始终怀疑肥厚型心肌病（HCM）；核磁共振成像对于区分HCM至关重要。磁共振成像在区分HCM本身与肿瘤表型方面也很关键。为排除肿瘤性病变，使用了F-FDG正电子发射断层扫描（PET）。进行了手术活检，并在免疫组织化学研究后完成了最终诊断。术前冠状动脉造影时发现了心肌桥并进行了相应治疗。
