21 year old man, with no significant past medical or family history who presents with constant burning sensation in his chest that becomes worse when lying down or with activity. .
He also has a sensation of palpitations x 1 week.
Physical findings: He has a history of tall stature. He is six feet, two inches tall and147 pounds. He is taller than other members in the family. He is somewhat loose jointed. He has flexible skin in his knees and elbows. He has some stretch marks on his thighs. He has a history of a tall palate and required spacers when young. He has myopia and wore glasses since the age of five. There is no known personal history of lens dislocation, no history of pectus deformity or significant scoliosis. He wears size 13 shoes. He denies any flat feet.
Echocardiogram: Markedly dilated aortic root (~5.3cm at sinuses). Aortic arch and descending thoracic aorta are of normal caliber. There is a focal dissection flap note in the aortic root resulting in a flail non-coronary cusp and severe aortic regurgitation. These results are consisitent with a sub-acute Type A aortic dissection.
CT-scan with contrast
21 year old man with aortic dissection – dx Marfan’s syndrome Top-left: H&E Top-right: Trichrome Bottom-left: Patient Elastin Bottom-right: Control Elastin
MYXOID DEGENERATION, ELASTIC TISSUE DEGENERATION AND FIBROSIS (RULE OUT MARFAN'S SYNDROME)
Microscopic: Routine stained sections of the aorta show focal myxoid degeneration of the media. A VVG elastic tissue stain and a trichrome stain show large areas of loss of elastic fibers in the media, replaced by fibrous tissue. These findings would be consistent with the changes seen in Marfan's syndrome.
Marfan’s syndrome is an autosomal dominant connective tissue disorder that affects the fibrillin-1 gene (FBN1). Patient’s are usually tall, with long extremities, fingers and toes. The most serious complication of Marfan’s syndrome is aortic dissection. Microscopically, characteristic features include cystic medial degeneration/necrosis that is highlighted by a VVG elastin stain.