Causes and histopathology of ascending aortic disease in children and young adults

Abstract

Background: Ascending aortic diseases (aneurysms, dissections, and stenosis) and associated aortic valve disease are rare but important causes of morbidity and mortality in children and young adults. Certain genetic causes, such as Marfan syndrome and congenital bicuspid aortic valve disease, are well known. However, other rarer genetic and nongenetic causes of aortic disease exist.

Methods: We performed an extensive literature search to identify known causes of ascending aortic pathology in children and young adults. We catalogued both aortic pathologies and other defining systemic features of these diseases.

Results: We describe 17 predominantly genetic entities that have been associated with thoracic aortic disease in this age group.

Conclusions: While extensive literature on the common causes of ascending aortic disease exists, there is a need for better histologic documentation of aortic pathology in rarer diseases.

Fig. 1

Histology of ascending aortas. (A) Normal ascending aorta showing dense elastic fibers in a young adult (Movat pentachrome, original magnification, ×10). (B) Ascending aorta with CMD and elastic fiber loss, characteristic of many genetic forms of aortic disease (Movat pentachrome, original magnification, ×10). (C) Ascending aorta from a subject with LDS with generalized widening of intralamellar spaces, typical of DMD (hematoxylin–eosin, original magnification, ×15). (D) Ascending aorta with CMD secondary to focal interlamellar degeneration (hematoxylin–eosin, original magnification, ×10).

Fig. 2

Proper ascending aortic evaluation. (A) If intact, the diameter (d) of the aorta should be recorded. (B) Additional measures of size (h=height) and other pertinent findings should be noted. (C) Six sections of the aorta, fitting into two tissue cassettes, should be evaluated for histologic changes.