NM-318
Incidental finding of aortic root dilation and aortic insufficiency in a child with undiagnosed connective tissue disorder
Verdecchia N, Nguyen K, Jones W, Drant S, Blasiole B
Children's Hospital of Pittsburgh, Pittsburgh, PA, United states
Background
An 11-year-old male was incidentally found to have an aortic aneurysm with a severely dilated aortic root, severe aortic insufficiency and extensive aortic to bronchial-pulmonary collateral vessels resulting in a “left to left†shunt. This case is unique because of the urgent management and anesthetic considerations required to address the aortic pathology and resultant valve insufficiency, but also due to how this child presented despite a known, a strong family history of probable connective tissue disorder with resultant aortic pathology and arteriovenous malformations (AVM).
Case
An 11-year-old male who presented with a left wrist fracture from a football injury was found to have a pathologic diastolic murmur. Transthoracic echocardiogram revealed a severely dilated aortic root and dilated aortic annulus with severe aortic insufficiency. Chest CT showed a large ascending aortic aneurysm and a significantly dilated aortic root, as well as numerous aortopulmonary collaterals. He had an extensive family history with an autosomal dominant pattern of severe aortic dilation and aortic aneurysm requiring root replacement, and systemic artery to pulmonary collaterals and multiple additional systemic, pulmonary and brain AVMs without definitive genetic diagnosis, but likely due to a probable unnamed connective tissue disorder now termed “Familial Multiple Organ Arterial Ectasia with Massive Hemoptysis†in a case report of his family.1 Operative repair of the aortic root and ascending aortic aneurysm was indicated, however cardiac catheterization for coiling of the multiple aorto-pulmonary collateral vessels was required prior to cardiopulmonary bypass. An MRI confirmed aortic root dilation and multiple collateral arteries arising from the descending aorta and giving rise to branches in the bilateral hilar region of the lungs creating a left-to-left shunt estimated at 53% of the net ascending aortic flow. These vessels were coiled during cardiac catheterization to decrease the risk of bleeding during aortic root surgery. Subsequently, the patient underwent a valve sparing aortic root replacement with 28 mm Hemashield graft and coronary re-implantation. Of note, the surgeon identified a contained dissection in the root. He had an unremarkable post-operative course and was discharged on POD#3.
Discussion
The case described is remarkable due to the severity of aortic root dilation and aneurysm serendipitously found after sustaining a left wrist fracture. The child underwent urgent management including anesthesia for combined MRI and cardiac catheterization for coil embolization of collaterals and then a valve sparing aortic root replacement. This patient was at risk for sudden death from the dissection was well as worsening aortic regurgitation. While the patient will require frequent and close follow-up for his suspected connective tissue disorder, the differential diagnosis for the genetic cause of his disease remains broad. The anesthetic management for patients with aortic connective tissue disease includes consideration of bleeding tendency, risk of aortic rupture or dissection, and hemodynamic management of severe aortic insufficiency.
References
1. Su C and Su W. Ann Thorac Surg 1989;47:461-3
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