Unmasking the unexpected: a rare case of rheumatic heart disease

BACKGROUND: Rheumatic heart disease is a systemic immune condition that develops from acute rheumatic fever. Rheumatic heart disease remains prevalent throughout the world, and this case highlights an unusual presentation of the disease. CASE SUMMARY: An otherwise healthy 7-year-old Caucasian girl from a suburban Midwest United States community presents with several weeks of headaches, nausea, and vomiting. After an unremarkable initial evaluation, a systolic murmur was noted during a general paediatrics clinic visit. An echocardiogram revealed severe mitral regurgitation, and further findings suggested a diagnosis of rheumatic heart disease. DISCUSSION: Rheumatic heart disease results from long-term damage to cardiac valves from an autoimmune reaction to Group A streptococcal pharyngitis. While various social determinants of health can contribute to the development of rheumatic heart disease, this case emphasises the importance of considering rheumatic heart disease in children without typical risk factors.