Pediatric Marfan Syndrome Associated Aortic Disease: A Clinical-Morphologic Review
Dylan V Miller, Lance K Erickson, Angela T Yetman, Shaji C Menon. University of Utah - Primary Children's Medical Center, Salt Lake City, UT
Background: Marfan syndrome is an autosomal dominant inherited connective tissue disorder with a population prevalence of 0.4-0.6%. Its primary manifestations include pectus deformities, ocular lens dislocation, arachnodactyly, mitral valve prolapse and aortic root dilatation. Complications of aortic root dilatation are the most feared and while early dilatation is common in childhood, the rate of progression is variable. Surgical aortic root repair is most often performed in adulthood, but may be necessary during childhood as well. This report describes the clinical features of Marfan patients undergoing aortic surgery at a children's hospital and the histomorphologic features of their aortic tissue.
Design: Patients with Marfan syndrome (on the basis of Ghent nosology and/or FBN1 mutation) undergoing aortic root replacement at Primary Children's Medical Center were identified in medical record databases. Pertinent clinical data were abstracted from charts and pathologic specimens from these patients (including elastic-stained aortic tissue sections) were systematically reviewed.
Results: Eleven Marfan syndrome patients underwent root replacement during the interval from 2000 to 2012. Six were male, all were white (with two ethnic Hispanics), and ages at surgery ranged from 2 to 22 (mean 15) years. The mean interval from Marfan syndrome diagnosis to surgery was 5 months for those with aneurysm as the presenting sign and 72 months for patients diagnosed on the basis of other findings. As expected, all patients showed maximal aortic dilatation at the sinus level (mean 48 mm). The sinotubular junction (mean 31 mm) and ascending aorta (mean28 mm) were also enlarged in all patients. All repairs were elective and used valve sparing techniques, however 2 patients subsequently needed valve replacement. Histologically, only one case showed normal medial architecture (the 2-year-old). The others showed either “cystic” medial degeneration (1 mild, 4 moderate) or diffuse pattern medial degeneration (2 mild, 3 moderate). There was no histologic evidence of dissection.
Conclusions: This series refines the focus of Marfan related aortic disease in pediatric patients. As with adults, the sinus portion of the aorta is most severely affected. The aneurysms (by definition) showed aggressive enlargement and all but one showed corresponding medial histopathologic changes. The diffuse pattern of medial degeneration was seen in at least one patient with confirmed FBN1 mutation.
Wednesday, March 6, 2013 9:30 AM
Poster Session V # 54, Wednesday Morning