Myocardial infarction in a child with multiple coronary aneurysms and neurofibromatosis type 1

Abstract

Vascular involvement in neurofibromatosis type 1 has been described, although coronary artery disease is rare. Data about clinical presentation and natural history are anecdotal. This is the first case of myocardial infarction due to coronary aneurysms in a 13-year-old boy with neurofibromatosis type 1. We discuss pathophysiology, diagnostic images, and therapeutic management of this rare association.

Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1

“…Although NF1 patients have a well‐recognized predisposition for ACAD (Milewicz et al, 2010), its exact pathophysiology is not yet known, but could implicate a role for neurofibromin in endothelial dysfunction and smooth muscle cell migration and proliferation (Hamilton & Friedman, 2000; Milewicz et al, 2010). Molecular studies in patients with NF1 and ACAD have been identified both truncating (Ruggieri et al, 2000; present patient) and nontruncating (Isabelle et al, 2020; Konig et al, 2021) NF1 pathogenic variants. Although truncating mutations in NF1 have been associated with distinct vascular anomalies (Lasater et al, 2010), its specific correlation is limited because both types of mutations have been identified in patients with NF1 and ACAD (Table 1) and also, by the scarce number of reported individuals with available molecular study.…”

“…From previous publications, we have summarized the characteristics of the 18 reported patients with NF1 and ACAD, including the patient reported here (Table 1). To the best of our knowledge, this is the first reported patient with NF1 and ACAD diagnosed at birth, since the previously reported youngest patients were adolescents of 13, 16, and 17 years old at diagnosis (Evrengul et al, 2013;Isabelle et al, 2020;Ruggieri et al, 2000), and the remainder were adults ranging from 22 to 80 years of age. The initial symptoms of ACAD were acute myocardial infarction in 11 of them and acute chest pain in two of them, respectively, and the other four patients were asymptomatic at diagnosis, like ours.…”

“…The initial symptoms of ACAD were acute myocardial infarction in 11 of them and acute chest pain in two of them, respectively, and the other four patients were asymptomatic at diagnosis, like ours. It is noteworthy that ACAD in NF1 can manifest as an acute myocardial infarction inclusively in teenagers (Evrengul et al, 2013; Isabelle et al, 2020), which is extremely rare at this age. Among NF1 patients with ACAD, 11 (61%) were males and 7 (39%) females, with a male:female ratio of 1.6:1.…”

“…The estimated prevalence of ACAD in the general population is 0.0001% (Ruggieri et al, 2000), representing 0.35% of adult patients undergoing cardiac catheterization (Núñez-Gil et al, 2020). ACAD frequency in NF1 has not been determined but it is generally assumed as infrequent, since there are less than 20 reported cases (Bilsel et al, 2005;Daly & Rubinstein, 1992;Evrengul et al, 2013;Fuchi et al, 1997;Isabelle et al, 2020;Kandarpa et al, 1988;Kawakubo et al, 2020;Konig et al, 2021;Molina-Martin de Nicolas et al, 2015;Ouechtati et al, 2011;Pascual-Tejerina et al, 2019;Patel et al, 2020;Pontailler et al, 2015;Ruggieri et al, 2000;Smith et al, 2009;Tins et al, 2000;Trevelyan et al, 2001), three of which were diagnosed in adolescence, and all of the remaining until adulthood. Here, we describe the youngest identified patient with NF1 and ACAD diagnosed at birth, along with a review of the previously reported cases.…”