ArticleJACC. Case reports2025
Severe Aortic Insufficiency and Cardiogenic Shock in a 16-Year-Old With DiGeorge Syndrome and Truncus Arteriosus.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
backgroundDiGeorge syndrome (22q11.2 deletion syndrome) is associated with complex congenital heart defects, including truncus arteriosus. Aortic valve insufficiency after bioprosthetic valve replacement is rare but can lead to cardiogenic shock. CASE SUMMARY: A 16-year-old girl with DiGeorge syndrome and truncus arteriosus presented with cardiogenic shock and severe aortic insufficiency. Initial stabilization with inotropes and mechanical ventilation failed, necessitating left atrial venoarterial extracorporeal membrane oxygenation (LAVA ECMO). Following her stabilization, transcatheter aortic valve replacement (TAVR) was performed, resulting in rapid hemodynamic improvement. DISCUSSION: This case demonstrates the successful use of LAVA ECMO and TAVR in managing bioprosthetic valve dysfunction and cardiogenic shock in a high-risk patient. The case underscores the importance of advanced cardiovascular interventions and multidisciplinary care, in line with current guidelines, for managing similar complex scenarios.
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