Cytopathology

By S. E. Arab, Zahra Maleki, Huaqing Zhao, Esther Diana Rossi, P. Bo, Ashish Chandra, Aatika Malik, N. Jhala, Syed Z. Ali, G. Fadda and 3 more. Laboratory Investigation, 2007

686 citations recorded by the source corpus.

325 Increased Histopathology in Marfan Syndrome Compared to Loeys-Dietz Syndrome and Non-Syndromic Aortas Kevin Waters, Andrew Guajardo, Marc Halushka. Johns Hopkins University SOM, Baltimore, MD. Background: In 2016, the Society for Cardiovascular Pathology (SCVP) and the Association for European Cardiovascular Pathology (AECVP) developed a new set of nomenclature and definitions for histopathology of the ascending aorta. We specifically investigated Marfan Syndrome (MS), Loeys-Dietz Syndrome (LDS) and non-syndromic aortas to see how our understanding of these diseases is impacted by these new criteria. Design: Aortic specimens from patients with MS (n=39), LDS (n=21), and nonsyndromic patients (n=53) were selected from our surgical archives along with basic phenotypic information. Each case was independently scored by 2+ observers in a blinded fashion for 13 features using H&E and Movat stained slides. Disagreements were adjudicated by a cardiovascular pathologist. All data was categorized, converted into numbers, tabulated, and analyzed using a Mann Whitney U test. Results: The average age of resection was lower in both MS (30±14) and LDS (20±16) cases than in non-syndromic cases (63±15), but no differences were noted in the sex/ racial distribution of the groups. The total medial degeneration score was higher in MS cases (2.2±0.8 in a 0-3 scale) than in LDS cases (1.7±1, p=4.4x10-2) or non-syndromic cases (1.7±0.8, p=2.6x10-3). Among patients with MS, the average score for mucoid extracellular matrix accumulation (MEMA) was higher for both extent (3.4±1.7 in a 0-6 scale) and severity (3.2±1.9) than that seen in non-syndromic cases (2.4±1.9 p=3.6x10-3 and 2.2±1.9 p=3.7x10-3; respectively). The average score was not significantly different in patients from non-syndromic cases or from LDS patients for either extent (2.6±1.8) or severity (2.4±1.8). Average elastic fiber loss was pronounced for both extent and severity in both MS (2.2±0.9 and 2.2±1, respectively; 0-3 scale) and LDS (1.7±1.1 and 1.7±1.2) compared to non-syndromic cases (1.0±1.2 and 0.9±1.1; all p values < 0.02). Conversely, the average extent and severity of smooth muscle cell nuclei loss was greater in non-syndromic cases (1.8±1.0 and 1.4±0.7) compared to MS (0.6±0.9 and 0.6±0.8) and LDS (0.5±0.9 and 0.3±0.6; all p values <10-4). Conclusions: This is the first evaluation of the new AECVP/SCVP aorta nomenclature and definitions in MS and LDS aortas. We clearly demonstrate that, in general, MS has more significant medial degeneration at the time of surgery compared to LDS or non-syndromic cases. There is also significantly more elastic fiber loss and less smooth muscle cell loss in these syndromic diseases compared to non-syndromic diseases.

Subfields: Epidemiology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/fd5e44b231e75d0562806e033c60ca474e610975