The Marfan syndrome. An underdiagnosed killer

The Marfan syndrome is an inherited connective-tissue disorder. The sequela of the syndrome is premature death that is most often due to cardiac complications and that can be prevented with early diagnosis and aggressive management. Although research has identified a gene responsible for the myriad of phenotypic presentations, the diagnosis of Marfan syndrome remains clinical. The family physician is well positioned, with consultation from an experienced cardiac surgeon, to orchestrate the diagnosis and management of the Marfan syndrome.