Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Anatomia Patologica, Università Cattolica Del Sacro Cuore, Rome, Italy.
Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Anatomia Patologica, Università Cattolica Del Sacro Cuore, Rome, Italy.
Cardiovasc Pathol. 2020 Nov-Dec;49:107244. doi: 10.1016/j.carpath.2020.107244. Epub 2020 May 23.
Cardiac myxoma is a rare benign neoplasm of the heart. Historically myxomas were incidental findings during autopsies, however improved imaging techniques made these diagnosis possible in living patients, making the surgical treatment of these neoplasms achievable. Cardiac myxomas may occur both sporadically and in a familial context, often in the clinico-pathological picture of the Carney complex. While familial myxomas occur in the context of well-known genetic mutations, the molecular etiology of sporadically occurring myxomas is still not completely clear. We must note however that many of the patients affected by myxomas are asymptomatic; when symptoms are present they are often nonspecific and hard to decipher, especially when referring to sporadically occurring heart myxomas. In this paper we describe a case of sudden death from the massive embolization of a left atrial cardiac myxoma. We also reviewed all the cases in the literature of sudden death from heart myxoma embolism. An accurate epidemiology of heart myxomas would be the key to outline the best treatment practices and the etiology of sporadic myxomas, nevertheless this target could only be pursued with a deep revaluation of the clinical autopsy as a fundamental diagnostic tool.
心脏黏液瘤是一种罕见的心脏良性肿瘤。历史上，黏液瘤是尸检时偶然发现的，但随着成像技术的提高，这些肿瘤在活体患者中也能得到诊断，从而使这些肿瘤的手术治疗成为可能。心脏黏液瘤可散发或家族性发生，常伴有卡尼综合征的临床病理特征。虽然家族性黏液瘤发生在明确的基因突变背景下，但散发性黏液瘤的分子病因仍不完全清楚。然而，我们必须注意到，许多患有黏液瘤的患者无症状；当出现症状时，这些症状往往是非特异性的，难以解读，尤其是涉及散发性心脏黏液瘤时。本文描述了一例因左心房心脏黏液瘤大块栓塞导致的猝死病例。我们还回顾了文献中所有因心脏黏液瘤栓塞导致猝死的病例。准确的心脏黏液瘤流行病学将是确定最佳治疗方法和散发性黏液瘤病因的关键，但这一目标只有通过深入重新评估临床尸检作为基本诊断工具才能实现。
