Ascending aortic disease can have devastating effects on affected individuals, resulting in severe morbidities including aneurysms, tears, dissections, hemopericardium, supra-valvular stenosis, and aortic valve regurgitation secondary to annular dilatation. While rare, it is an important cause of death in children and young adults. In the adult population, aneurysms have an estimated incidence of 5.9 cases per 100,000 person-years [1
]. There are no data on the pediatric population, but aortic disease is expected to be less frequent. At our institution, a major referral center for genetic syndromes associated with aortic aneurysms, ascending aortic specimens from children and young adults represent less than 0.1% of the surgical pathology caseload. In the forensic setting, aortic dissections were found in 5.4% of autopsies performed for sudden cardiac deaths in young individuals [2
Despite several recent large case studies that have evaluated the histopathology of the ascending aorta, the etiologies of most cases in young adults were unclassified [3
]. Unlike aortic aneurysms in older adults that are associated with hypertension, smoking, and hypercholesterolemia, aneurysms in young individuals generally occur in the setting of an inherited disorder [5
]. Yet, no studies have adequately correlated pathologic and clinical diagnoses in this population. Among genetic disorders, a common final aberration is an up-regulation of tumor growth factor (TGF) β activity in the ascending aorta. These “TGFβ-opathies” include Marfan syndrome (MFS), Loeys–Dietz syndrome (LDS), Ehlers–Danlos syndrome type IV (EDS-IV), arterial tortuosity syndrome (ATS), autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive cutis laxa type 1 (ARCL), which are described herein [6
This review provides a description of the entities that can lead to ascending aortic disease in children and young adults to raise awareness on the causes of aortic dissection in this population. We have collected histopathologic descriptions of these entities () and have documented known physical findings beyond the ascending aorta to best characterize each disease. As described herein, making a definitive disease diagnosis of an ascending aortic specimen is usually not possible on the basis of histopathology alone. However, histologic features, when correlated with clinical situations, can significantly narrow down the potential causes of the aneurysm/dissection. This can aid clinicians and geneticists in either treatment of the affected individual or counseling of the relatives of the affected individual. Finally, we recommend a handling–dissection strategy for aortic roots as surgical or autopsy tissues, so that maximal information may be gleaned from each case by the examining pathologist.
Pathologic changes in the ascending aorta in diseases of children and young adults