Sarah D. King, Spencer Wilhelm, Ruth Lewit, Erin E. Perrone, Arul Thirumoorthi
University of Michigan,.
United States
Perfusion
Perfusion 2026;
DOI: 10.1177/02676591261420652
Abstract
Introduction: Generalized arterial calcification of infancy (GACI) is a rare, difficult to recognize, autosomal recessive disorder with high neonatal mortality due to vascular calcification and cardiopulmonary collapse.
Case Report: We report a term female presenting with persistent pulmonary hypertension requiring venoarterial extracorporeal life support within 24 h of life. Despite initial stabilization, she developed progressive neurologic deterioration. Imaging revealed diffuse vascular calcification including severe carotid involvement. GACI was suspected and later genetically confirmed.
Discussion: While ECLS effectively bridged to diagnosis, the case was complicated by extensive cerebrovascular calcification, resulting in irreversible neurologic injury. This represents the utility of ECLS as bridge to diagnosis and subsequent identification of the first case of GACI with catastrophic carotid involvement.
Conclusion: Our report highlights the role of ECLS as bridge to diagnosis in GACI and potential for characterization of previously unrecognized processes in this disease.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Surgical and Catheter-mediated Interventions for Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
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