Late diagnosis of 22q11.2 microdeletion syndrome in adulthood: clinical implications associated with tetralogy of Fallot, infective endocarditis, and septic embolism

Horacio Muñoz-López, Department of Internal Medicine, “Dr. José Eleuterio González” University Hospital, Monterrey, Mexico
Tiffany Amber-Dunaway, Department of Internal Medicine, “Dr. José Eleuterio González” University Hospital, Monterrey, Mexico
Alejandro Rivera-Millán, Department of Internal Medicine, “Dr. José Eleuterio González” University Hospital, Monterrey, Mexico
Javier E. Escober-Torres, Department of Cardiology, “Dr. José Eleuterio González” University Hospital, Monterrey, Mexico
Diego I. Cardoso-Casco, Department of Cardiology, “Dr. José Eleuterio González” University Hospital, Monterrey, Mexico

22q11.2 microdeletion syndrome, also known as DiGeorge syndrome, is a multisystem genetic disorder characterized by congenital heart disease and immune dysfunction. Adults with conotruncal defects are at an increased risk for infective endocarditis. We present the case of a 42-year-old man who experienced transient loss of consciousness, stroke, and hypoxemia. Chest computed tomography revealed multiple cavitated pulmonary nodules consistent with septic emboli. Transthoracic echocardiography demonstrated tetralogy of Fallot accompanied by valvular vegetations. Blood cultures identified the presence of Streptococcus parasanguinis. In addition, fluorescence in situ hybridization confirmed a 22q11.2 microdeletion. The patient underwent 6 weeks of intravenous ceftriaxone treatment, resulting in a favorable clinical outcome. This case underscores the significance of genetic and echocardiographic assessment in adults with congenital heart diseases and highlights the importance of early recognition of 22q11.2 deletion syndrome in preventing severe cardiovascular complications.

Keywords: DiGeorge syndrome. Tetralogy of Fallot. Infective endocarditis. Septic embolism. Congenital heart defects.