Abstract
IntroductionMarfan syndrome is a heritable disorder of the connective tissue that affects many organ systems. However, the most serious complication in patients with Marfan syndrome is progressive aortic root dilation, which may lead to aortic dissection, rupture or aortic regurgitation. Prevention of these life threatening complications is of major importance.Case presentationWe report here a case of a 34-year-old, Caucasian male diagnosed for the first time with Marfan syndrome. He required medical attention due to his chest pain that resulted as a consequence of strenuous physical effort. Medical examinations revealed severe aortic root enlargement and aortic intramural hematoma. Patient ended-up fatally during open heart surgery.ConclusionIt is very important to recognize on time Marfan syndrome, as preventive actions that should be undertaken can avoid its serious consequences.
Highlights
Introduction: Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems
The most serious complication in patients with Marfan syndrome presents progressive aortic root dilation that may lead to aortic dissection, rupture or aortic regurgitation, which used to be the main cause of death in this patient category prior to the era of successful preventive therapies
We report here a case of a 34-year-old male diagnosed for the first time with Marfan syndrome, with severe aortic root enlargement and aortic intramural hematoma, which ended up fatally during open heart surgery
Summary
Marfan syndrome is a heritable disorder of the connective tissue, with primary involvement of musculoskeletal, cardiovascular, and ocular systems. We report here a case of a 34-year-old male diagnosed for the first time with Marfan syndrome, with severe aortic root enlargement and aortic intramural hematoma, which ended up fatally during open heart surgery. Case presentation A 34-year-old Albanian, Kosovan male was sent to our centre to undergo echocardiography, in order to clarify the unexplained chest pain that had started two days earlier. Patient explained that his chest pain started after physical exertion, which consisted of carrying wood. Ocular pressure was 12 mmHg. In accordance with Ghent criteria, patient was diagnosed as having Marfan syndrome, complicated by severe aortic root aneurysm and type A intramural hematoma with no intraluminal tear or flap being detected. Contrast CT of the chest demonstrated severe enlargement of aortic root measuring 78.7 mm, and intramural hematoma that reached the aortic arch (Figure 4)
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