Aneurysmal dilatation of the aortic sinuses of Valsalva — beyond Marfan syndrome: a single centre experience and review of the literature

Abstract

Aneurysmal dilatation of the aortic sinuses of Valsalva has been most extensively documented in the setting of aortopathies, particularly Marfan syndrome. On the other hand, there is limited data in the literature about congenital sinus of Valsalva aneurysms outside this context. For the purpose of this review, we carried out a literature search on aneurysmal dilatation of the sinuses of Valsalva in Marfan syndrome, and compared this with congenital sinus of Valsalva aneurysms, also including data from a case series from our institution. In conclusion, there are differences in management of aortic dilatation in Marfan syndrome and congenital sinus of Valsalva aneurysms. Though less well-recognised, congenital aneurysms are often associated with significant morbidity and mortality and timely intervention is necessary.

Angina pectoris and sinus of Valsalva aneurysm: a rare manifestation of an uncommon disease

“…However, the rate of incidence is highly dependent on the population under analysis. It is noted that men are more often affected than women and Asian descent is a risk factor (6,7). It has been shown that the right sinus of Valsalva (RSoV) is affected most often.…”

“…SoV aneu-rysms are often attributed to congenital pathologies. Congenital diseases that can lead to SoV aneurysm are Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, and other rare connective tissue disorders (5,6). On the other hand, different acquired pathologies can also weaken the aortic wall and lead to dilation.…”

Sudden Infant and Early Childhood Death and Sinus of Valsalva Pseudoaneurysms

“…These lesions consist of outpouchings through the aortic root between the aortic valve annulus and the sinotubular ridge. There is a higher incidence in males and in certain Asian populations .…”

Aortic dilation, genetic testing, and associated diagnoses

“…5,9 Sinus of Valsalva aneurysms have also been described in patients with Klippel-Feil syndrome, cutis laxa, and Treacher-Collins syndrome. 10 While the cornerstones for establishing a diagnosis continue to be a complete medical history, a detailed three-generation family history, and a comprehensive physical examination, there is great phenotypic overlap among CTDs. 11 Clinicians often proceed with ordering molecular or cytogenetic studies in an attempt to reach a definitive diagnosis in hopes it will allow for improved counseling and will guide clinical monitoring and intervention.…”