Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome

Abstract

Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

“…This gene is responsible for the production of fibrillin-1 glycoprotein in the human body. [1][2][3][4][5] Incidence of MFS is approximately 1 in 5000 births, without differences among gender, ethnic, and geographic groups of affected individuals. In 75% of cases, this syndrome has a hereditary cause (25% results of new mutation).…”

“…The inheritance pattern in this syndrome is autosomal dominant (AD), and mutations in the gene for fibrillin‐1 (FBN1) cause most cases of MFS. This gene is responsible for the production of fibrillin‐1 glycoprotein in the human body 1‐5 …”