Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome
DOI:
https://doi.org/10.31053/1853.0605.v79.n4.30846Keywords:
Marfan syndrome, aortic aneurysm, aortic regurgitationAbstract
Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3. Due to the severity of the signs and symptoms the diagnosis is usually at a very young age. We report a patient with extreme Marfan syndrome with all the particulars that this syndrome offers.
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