Ascending Aortic Aneurysm Is an Inherited Disease

Abstract

There is growing evidence of a differential etiological basis for thoracic aortic aneurysms (TAA), with ascending (As) TAAs being genetically mediated and descending (Des) TAAs more strongly related to acquired pathologies. A comprehensive literature review of this hypothesis has not been carried out. We carried out a systematic literature review based on the latest guidelines on TAA endorsed by the American Heart Association. The etiologies were classified as genetic and inherited, the studies were tabulated accordingly, and Hill's epidemiological criteria of causality were applied. We found 38 studies addressing the etiology of TAAs. Out of these, 17 were about genetic causes, 9 about acquired causes, and 4 had information regarding both etiologies. Multiple genetic studies showed a strong association of As TAA with different genetic mutations. Contrary to commonly held beliefs, acquired causes, that is, dyslipidemia, diabetes, and atherosclerosis, were negatively associated with As TAA and positively associated with Des TAA. Hypertension was only associated with Des TAA and dissections (TAAD), not with As TAA. Multiple studies fulfilled the criteria of strength of association (n = 4), consistency (n = 9), specificity (n = 5), temporality (24), biological gradient (n = 3), plausibility (n = 38), biological coherence (n = 25), experiment (n = 4), and analogy (n = 6). Our literature review supports the hypothesis that As TAA is genetically mediated and Des TAA is predominantly an acquired pathology, and supports the argument for genetic testing in all cases of As TAA.

Refining the upper limit of normal for the ascending aorta: In search of optimal criteria ‐‐ a large database study of normal individuals

“…The statistically significant but weak correlation of systolic blood pressure, diastolic blood pressure, and mean arterial pressure with mAA and SV is in consonance with prior studies 24 that suggest that the main effect of hypertension is on the abdominal aorta and that ascending aortopathy is more of an inherited disease than an acquired illness. In addition, the stronger relationship of blood pressure with mAA than with SV also is in line with these prior studies, suggesting that the mAA is more affected by blood pressure than the SV.…”

Life Expectancy after Surgery for Ascending Aortic Aneurysm

“…Several environmental and genetic risk factors have been identified in its formation [3]. Once a segment of the aorta is aneurysmal, the entire aorta is considered as pathological [1].…”

Structure of comorbidity in ascending aortic aneurysm

“…Это, в свою очередь, может приводить к различной частоте атеросклероза и аневризм разных отделов аорты и их связи с ишемической болезнью сердца (ИБС) и ее клиническими проявлениями. Об этом говорят и факты, свидетельствующие о дифференциальной этиологической основе аневризмы разных отделов грудной аорты, где аневризма восходящего отдела является генетически опосредованной, а нисходящего -более тесно связанной с приобретенными патологиями (дислипидемия, атеросклероз, СД2) [8].…”