Chest pain is the second most common reason for referral to a pediatric cardiologist, because cardiovascular-related disorders are a major concern for children and their families when seeking medical attention. On the rare occasions when pediatric chest pain is a result of severe heart disease, it is usually associated with well-known cardiovascular risk factors such as fibrillinopathies. Type 1 fibrillinopathies are heritable disorders caused by mutations in the fibrillin genes that lead to a broad spectrum of connective tissue phenotypes ranging from Marfan syndrome, at the most severe end, to patients displaying mild marfanoid features, or milder Marfan (MM). We report the case of an adolescent patient with MM and suspected acute coronary syndrome, with chest pain and electrocardiographic changes suggestive of myocardial ischemia. Despite the low risk of coronary or aortic dissection/aneurysm in MM, these possibilities should be tested. Once they are ruled out, mitral valve prolapse should be considered as the main cause of chest pain with ischemic-like changes in the inferior electrocardiogram leads. We emphasize that clinical and echocardiographic follow-up over years is warranted in the pediatric population to ensure that the aortic root does not show progressive dilatation or a tendency to dissect. Finally, genotyping is clinically indicated for early and complete diagnosis in patients with MM as well as de novo Marfan syndrome to take advantage of educational and clinical programs for young carriers of the mutation.

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