Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa

Abstract

Aortic aneurysms are rare in the pediatric age group and are commonly caused by genetic disorders associated with vasculopathy, weakness and fragility of arterial walls with progressive dilatation or even rupture. We reported a giant aortic aneurysm involving the ascending aorta and aortic arch in a 20-month-old girl with autosomal recessive cutis laxa type 1B (ARCL1B) who presented with hemorrhagic pericardial effusion and tamponade (impending rupture). Successful surgical repair has been done through excision of the aneurysmal part and replacement by Hemashield graft with preservation of the aortic valve.

Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement

“…Due to the known tissue fragility in this specific disease as well as current age and height of our patient (nearly outgrown patient), we restrained from using autologous tissue for arch repair—as described in a previous case report. 9 Since the interaction of fibulin‐4 with other matrix molecules is highly dependent on Ca 2+ ‐binding, 8 this depicted novel mutation appears highly pathological. The additional mitochondrial VUS can either be non‐relevant—referring to the unobtrusive presence in the mother—or a co‐founder owing to its regulatory impact on vasoconstriction and vasorelaxation properties with enhanced synthesis and expression of COX‐2 in already impaired contraction properties found in Marfan patients.…”

“…The latter repair of our patient was performed by a redo‐VSRR with a 24 mm Gelweave™‐vascular‐as well as a repair of the arch with a 20 mm Siena™‐prosthesis. Due to the known tissue fragility in this specific disease as well as current age and height of our patient (nearly outgrown patient), we restrained from using autologous tissue for arch repair—as described in a previous case report 9 . Since the interaction of fibulin‐4 with other matrix molecules is highly dependent on Ca 2+ ‐binding, 8 this depicted novel mutation appears highly pathological.…”