Take-home messages
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• Rheumatic heart disease should be suspected in children without classic risk factors for the disease, even if they reside in non-endemic areas.
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• Early diagnosis and intervention of Group A Streptococcus infections are crucial in preventing disease progression.
History of presentation
A previously healthy 7-year-old Caucasian girl from a suburban neighbourhood in the Midwest United States presented after several weeks of headaches, nausea, and vomiting, initially attributed to a gastrointestinal illness. The patient is active and denies cough, sore throat, shortness of breath, chest pain, palpitations, and syncope with activity. The parents report no neurological changes with headaches and vomiting.
To evaluate for a gastrointestinal aetiology for her symptoms, the patient had an upper endoscopy and colonoscopy, which returned negative. A systolic murmur was noted in the general paediatrics office, and the patient was referred for an echocardiogram. On physical examination, the patient was noted to have a regular rate and rhythm with a holosystolic murmur loudest over the apex of the heart. The physical examination was negative for any joint pain or swelling, skin findings, or focal neurological deficits.
Past medical history
The patient has no significant past medical history, and there is no family history of CHDs.
Differential diagnosis
The differential diagnosis included several serious conditions given the patient’s clinical presentation. Gastrointestinal illnesses or central nervous system pathologies were considered, given the several-week history of nausea and vomiting. The patient’s presentation could also be explained by various electrolyte imbalances or metabolic disturbances.
The presence of a new pathologic systolic murmur brought other disease processes into consideration, such as infectious or cardiac aetiologies. Accordingly, infective endocarditis or viral myocarditis was included in the differential diagnosis. Structural heart disease was also considered, as CHDs may not be diagnosed until later in childhood.
Finally, acute rheumatic fever was considered, as the disease process results in inflammation of the heart, which can present with headaches and nausea. A detailed history from the patient or guardians can help narrow the differential diagnosis, as recent pharyngitis or polyarthritis would raise the clinical suspicion of acute rheumatic fever.
Investigations
A transthoracic echocardiogram demonstrated a thickened and dysplastic mitral valve with restrictive motion and relative prolapse resulting in severe mitral regurgitation (Figures 1 and 2). There was associated moderate to severe left-sided heart enlargement and preserved left ventricular systolic function. Antistreptolysin O titres and erythrocyte sedimentation rate levels were elevated. Group A Streptococcus PCR swab was positive.
Apical 4 chamber view of heart showing severe left atrial dilation and severe mitral regurgitation.
Figure 1 Long description
Panel A: An echocardiogram in a grayscale image showing the heart in an apical 4 chamber view. The image highlights the heart chambers and valves, with a focus on the mitral valve and left atrium. Panel B: An echocardiogram with color Doppler imaging showing blood flow through the heart. The color Doppler highlights areas of severe mitral regurgitation and left atrial dilation.
Parasternal short-axis image of the left ventricle and dysplastic mitral valve.
Management
The patient was admitted to their local tertiary-level paediatric hospital. She was treated with IV Penicillin V, IV diuretics, enalapril for the afterload reduction and valvar regurgitation to manage carditis and eradicate Group A Streptococcus. She was started on oral Penicillin V 250 mg three times daily for a 10-day course. Following this antibiotic course, the patient was started on Penicillin V 250 mg twice daily for secondary prophylaxis indefinitely based on current guidelines. These guidelines recommend that the patient receive secondary prophylaxis until age 21, or potentially lifetime secondary prophylaxis if there is residual heart disease. Reference Kumar, Antunes and Beaton1 While the use of corticosteroids remains controversial in rheumatic heart disease, a tapered course of prednisolone was started, given the severity of her valvular disease.
Outcome and follow-up
The patient was discharged in good clinical condition on oral diuretic therapy, afterload reduction with enalapril, and oral Penicillin for prophylaxis. She is followed routinely in the outpatient setting by both paediatric cardiology and infectious disease teams. Based on American Heart Association recommendations and the degree of valvar involvement, she will likely require lifetime penicillin prophylaxis.
Fortunately, the patient no longer has headaches, nausea, or vomiting that she previously experienced leading up to her hospital admission. She remains without significant cardiovascular symptoms. Surveillance echocardiograms continue to demonstrate regurgitation of the mitral valve, though there has been improvement in left-sided chamber dilation with preserved systolic function. Long-term surveillance and follow-up remain essential, particularly should the mitral valve ultimately require procedural intervention.
Discussion
Rheumatic heart disease remains a significant public health concern, particularly in underserved populations. It arises as a sequela of acute rheumatic fever, which is a complication of untreated throat infections, due to long-term damage to cardiac valves. Acute rheumatic fever is an autoimmune response to Group A streptococcal pharyngitis. Reference Cunningham2 Its prevalence varies globally, occurring more commonly in developing countries due to an increased risk of Group A Streptococcus infection. Reference Watkins, Johnson and Colquhoun3 Studies have shown that risk factors include overcrowding, malnutrition, low socio-economic status, and lack of access to healthcare. Reference Carapetis, Beaton and Cunningham4 The annual incidence of acute rheumatic fever in the U.S. today is <2 cases per 100,000 school-aged children compared to an incidence of up to 150 cases per 100,000 worldwide. Reference De Loizaga, Arthur and Arya5
Although rheumatic heart disease is often considered a disease of the developing world, it is also seen in certain at-risk populations within the United States as well. Social determinants of health, such as poverty, limited access to healthcare, inadequate housing, and poor nutrition, contribute to the risk of developing rheumatic heart disease in children. These socio-economic risk factors can be quantified in indexes such as the Childhood Opportunity Index and the Social Vulnerability Index.
The Childhood Opportunity Index is a composite measure of factors such as access to healthcare, quality education, and a safe living space. 6 The Childhood Opportunity Index has been used to predict health outcomes, and a lower Childhood Opportunity Index score correlates with increased susceptibility to conditions like acute rheumatic fever. Children from lower Childhood Opportunity Index neighbourhoods often have less access to care, resulting in less timely diagnosis and treatment of Group A Streptococcus infections. This delayed treatment and the higher risk of recurrent infections in underserved areas contribute to a greater risk of developing rheumatic heart disease.
Additionally, the Social Vulnerability Index is another useful tool for clinicians to recognise populations at risk for rheumatic heart disease and other diseases. The Social Vulnerability Index assesses a community’s resilience to external stresses based on factors such as poverty, transportation, and housing quality. Reference Ibrahim, Sainbayar and Pham7 Areas with high social vulnerability may correspond with more children who are unable to receive preventive care or treatment for streptococcal infections. These barriers to care increase individuals’ vulnerability to the complications of Group A Streptococcus infections, including valvular heart disease. The patient in this case is from the suburban Midwest, making the diagnosis of rheumatic heart disease unusual and rare (Childhood Opportunity Index: Very High, Z-score 1.234; Social Vulnerability Index: 0.0075).
Although this patient had no predisposing factors and resides in a country without endemic disease, her presentation and diagnostic findings suggested rheumatic heart disease. The diagnosis of acute rheumatic fever is clinical and based on updated Jones Criteria by the American Heart Association. Reference Gewitz, Baltimore and Tani8 While the patient did not fully meet Jones Criteria for acute rheumatic fever, her valvular disease in the setting of elevated inflammatory markers, Antistreptolysin O titres, and Group A Streptococcus infection made her diagnosis highly suspicious for rheumatic heart disease.
Conclusions
This case highlights the importance of considering acute rheumatic fever as an aetiology of carditis even in the absence of risk factors and in non-endemic regions. Rheumatic heart disease continues to pose a risk to paediatric populations, especially in children who reside in underserved areas. The use of tools like the Childhood Opportunity Index and Social Vulnerability Index can help identify populations at risk for disease. Heightened clinical suspicion and timely diagnosis of rheumatic heart disease allow for therapeutic interventions that can prevent the progression of the disease and improve patient outcomes.
Acknowledgements
None.
Financial support
This research received no specific grant from any funding agency, commercial, or not-for-profit sectors.
Competing interests
Mr. Wilkinson, Dr. Nguyen, and Dr. Robinson have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
