Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV

Abstract

<jats:p> Ehlers-Danlos syndrome vascular type IV is characterized by translucent skin, easy bruising, and fragility of arteries. A full-term female infant presented at four weeks of age with a diagnosis of d-transposition of the great arteries with restrictive atrial septal defect. She successfully underwent emergent balloon atrial septostomy and placement of patent ductus arteriosus (PDA) stent. She required restenting of the PDA and pulmonary artery banding prior to arterial switch procedure. At 16 months of age, the patient successfully underwent arterial switch procedure without complication. This report demonstrates the feasibility of an arterial switch operation along with long-term follow-up of this rare condition. </jats:p>

Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

“…Thus, reports of the existence of COL51A variants in related individuals have been described before [3,6] , as we found in here. But despite these reports, there is only one case reported in the literature with transposition of the great arteries (TGA) and vEDs, of a female who underwent surgical repair [7] at 16 months old.…”

“…The clinical diagnosis can be challenging, especially when symptoms overlap with other EDS subtypes or other CTDs. Therefore, a definitive diagnosis of cEDS relies on genetic studies [1][2][3][4][5][6][7] . Arterial dissections have been reported previously as a rare finding in cEDS patients [3,5] .…”