Virginia Via Research Day Book 2026

Medical Student Research Case Reports

06 CARDIORESPIRATORY ARREST IN A 4-MONTH-OLD MALE LEADING TO DIAGNOSIS OF BARTH SYNDROME: A CASE REPORT

Samuel Fairman, OMS-III; Kaylie Ward, OMS-IV; Zairha Snider, MD Corresponding author:sfairman@vcom.edu

VCOM-Virginia, Blacksburg, Virginia

intraventricular hemorrhage, and radiographic features of posterior reversible encephalopathy syndrome (PRES), which was presumed to be secondary to tacrolimus neurotoxicity. Antiepileptic therapy with levetiracetam resulted in resolution of seizures. His post-transplant course of recovery was also complicated by mycophenolate mofetil (Cellcept) associated colitis, requiring a colonoscopy, which resulted in a colonic perforation, requiring a partial right colectomy with ileostomy and gastrostomy tube. He also has chronic mild neutropenia (ANC 1000-1500), which predates his post transplant immunosuppressive medications. He is currently followed by cardiology, neurology, and gastroenterology. Comments: Barth syndrome has a variety of clinical characteristics. Most affected individuals present in infancy with cardiac manifestations, particularly dilated cardiomyopathy, which aligns with this patient’s initial presentation. Neutropenia and growth delay, both well-described features of the disorder, were also present in this case. Current descriptions of the syndrome, including those summarized in GeneReviews (Ferreira et al., 2020),

highlight the phenotypic variability but consistently emphasize early cardiac involvement and intermittent neutropenia. Several complications experienced by this patient, such as PRES and mycophenolate-associated colitis, are not typical features of Barth syndrome but are instead recognized risks of post-transplant immunosuppressive therapy. This case illustrates both the characteristic manifestations of Barth syndrome and the added complexity introduced by advanced cardiac interventions and their associated treatments. Diagnosis: Barth syndrome with severe dilated cardiomyopathy, confirmed by TAZ gene mutation.

Context: A 4-month-old male presented to the ER with respiratory grunting, where he suffered cardiorespiratory arrest from an underlying severe cardiomyopathy. Subsequent genetic testing confirmed the diagnosis of Barth Syndrome, a rare X -inked multi system disorder that presents with cardiomyopathy, neutropenia, and failure to thrive. Report of Case: This patient was brought by his foster parents to the ER for respiratory distress, where he developed cardiorespiratory arrest, which required CPR and intubation. Upon transfer to the PICU, echocardiography confirmed a severe cardiomyopathy with severely diminished left ventricular systolic dysfunction. After stabilization during a three-week hospitalization, he was discharged and referred for genetic testing, which showed a variant in the TAZ gene, consistent with Barth syndrome. He remained clinically stable on oral congestive heart failure medications until he deteriorated at 3 years of age, requiring placement of a left ventricular assist device (LVAD) as a bridge to orthotopic heart transplantation (OHT). Ten days post OHT, he developed seizure-like activity characterized by eye deviation. MRI showed a subdural hematoma,

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