P3C381: Biventricular Systolic Dysfunction in a Pediatric Patient with Autoimmune Polyglandular Syndrome Type 2

Introduction: Autoimmune Polyglandular Syndrome type II (APS-II) is characterized by Addison’s disease in combination with either autoimmune thyroid disease or type I diabetes, and classically is more prevalent in adults. Acute reversible cardiomyopathy and heart failure in children and adolescents with APS-II has not been reported. We present a patient with a left ventricular ejection fraction (LVEF) of 30-35% with a new diagnosis of APS-II.

Case Description: A 16-year-old male with a history of attention deficit hyperactivity disorder (ADHD) and recent hospitalization for influenza encephalitis presented to the emergency department (ED) with a 1 day history of altered mental status, in addition to fatigue, decreased appetite, and altered mood for 3 days. On EMS arrival, he was noted to have a blood glucose of 50 mg/dL, for which he was given dextrose and transported to the ED. Notable physical exam findings were hypothermia (35.0 C), hypotension (93/53), diminished heart sounds, cool extremities, and disorientation and confusion . Initial laboratory studies revealed hyponatremia (130 mmol/L), hypochloremia (97 mmol/L), elevated BUN (32 mg/dL), and mildly elevated creatinine (0.92 mg/dL). The combination of hypoglycemia, hyponatremia, and hypotension was concerning for adrenal crisis, so he was immediately given stress dose steroids in addition to fluid resuscitation. Additional labs showed elevated TSH (91.2 uIU/mL) and decreased free T4 (0.2 ng/dL). Urine drug screen was negative. Bedside ultrasound obtained due to poor perfusion and diminished heart sounds showed diminished biventricular function, which was subsequently confirmed with an echocardiogram (ECHO). ECHO showed LVEF of 30-35% with an otherwise structurally normal heart. The patient initially required vasoactive support with milrinone and epinephrine and was admitted to the CVICU. He was ultimately diagnosed with APS-II and began to show improvement by day six after continued treatment with hydrocortisone for adrenal insufficiency (AI), levothyroxine for hypothyroidism, and enalapril for afterload reduction.

Discussion: Untreated AI results in low cortisol levels, which the adrenal medulla requires to make epinephrine. This is thought to contribute to cardiac dysfunction that may be seen in some cases of AI (Larsen et al, 2016). There are a few case reports demonstrating pediatric patients with idiopathic Addison’s disease who developed acute reversible cardiomyopathy but none with concurrent hypothyroidism as seen in APS-II (Odek et al, 2017).

Conclusion: This case demonstrates a unique presentation of biventricular systolic dysfunction in the setting of acute AI and hypothyroidism. It also highlights the importance of having a high index of suspicion for AI in the ED.