Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (ACVR1) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in ACVR1. Radiological reports of central nervous system (CNS) involvement by FOP have described brainstem masses; however, the literature on the histopathology or pathogenesis of these lesions is scant. Here we present detailed neuropathologic findings of a brainstem mass in a patient with FOP and suggest that the tumor is hamartomatous in nature. This report, along with a literature review of radiographic and laboratory data, offers support for the idea that the ACVR1 mutation may incite CNS proliferation, predominantly in the brainstem, but is probably not an oncologic driver. These lesions may be seen at autopsy and are likely noncontributory to death.

Severe Myocardial Steatosis: Incidental Finding or a Significant Anatomic Substrate for Sudden Cardiac Arrest?

Myocardial steatosis, also known as lipomatosis cordis, is characterized by adipose tissue within the myocardium without significant fibrosis. Evidence suggests that accumulation of fat can disturb the normal electromechanical physiology of the myocardium. Herein, we discuss the case of a 60-year-old woman with a history of chronic obstructive pulmonary disease who died because of anoxic encephalopathy after a sudden cardiac arrest (SCA). An electrocardiogram showed QRS fragmentation noted as notched R in inferior leads. The autopsy revealed a very small thromboembolus in a distal subsegmental branch of the pulmonary artery, which could not explain the SCA. There was an extensive intramyocardial accumulation of adipose tissue involving the right ventricle and interventricular septum, which split the myocardium into discrete bundles. Arrhythmogenic right ventricular cardiomyopathy was ruled out based on the absence of typical fibrofatty changes. The mechanism of fat replacement was likely secondary to redistribution of visceral fat in the setting of Cushing syndrome. We propose that severe myocardial steatosis can create an anatomic substrate to facilitate the development of SCA. Myocardial steatosis should be reported to identify patients who are at risk for developing cardiovascular events secondary to extreme cardiac adiposity.