Rheumatic Heart Disease

Definition

Rheumatic heart disease (RHD) is chronic, permanent damage to one or more heart valves — most often the mitral, and often also the aortic valve — resulting from one or more episodes of acute rheumatic fever (ARF), an autoimmune inflammatory illness triggered by infection with group A Streptococcus ("strep throat").¹

Pathophysiology

ARF develops when the immune response to a streptococcal infection cross-reacts with the body's own tissues — a phenomenon called molecular mimicry — causing inflammation of the heart, joints, skin and central nervous system. Recurrent or severe carditis leads to progressive scarring, thickening and fusion of the valve leaflets and chordae, producing valvular stenosis or regurgitation, most classically mitral stenosis.

Two features of this process drive everything about management. First, the damage accumulates per episode, so each recurrence of ARF worsens the valve — which is why prevention of recurrence, not treatment of the valve, is the primary intervention. Second, the valve lesion evolves over years to decades after the last episode, so a person with no recent illness can still be deteriorating.¹

Co-morbidities

RHD frequently coexists with atrial fibrillation, arising from a chronically stretched, scarred left atrium, and carrying a high stroke risk in the presence of mitral stenosis. Pulmonary hypertension follows long-standing left-heart valve disease. The damaged valve surface raises the risk of infective endocarditis. Overcrowded housing and limited access to healthcare — social determinants strongly linked to the communities most affected — compound both the risk of recurrent ARF and delay in diagnosis.¹

Prevalence

RHD remains common in low- and middle-income countries and, within Australia, disproportionately affects Aboriginal and Torres Strait Islander people, particularly in northern, remote and rural communities, where recorded rates are among the highest in the world.² Globally it accounts for a large and under-recognised share of cardiovascular death in young adults, concentrated in populations with the least access to cardiac surgery.³ The disparity reflects the social and environmental drivers of recurrent streptococcal infection, and has made RHD a national health priority with dedicated control programmes.

Causes and risk factors

RHD is caused by one or more episodes of acute rheumatic fever following group A streptococcal throat — and, in high-incidence settings, possibly skin — infection. Risk factors for ARF and its recurrence include overcrowded housing, limited access to timely treatment for sore throats, and previous ARF, which markedly raises the risk of further episodes. In Australia, Aboriginal and Torres Strait Islander identity is associated with risk through these social determinants, not through any biological predisposition — a distinction that matters clinically as well as ethically, because it identifies what can be changed.¹

Symptoms

Acute rheumatic fever

ARF presents with fever, migratory joint pain and swelling, and sometimes a rash (erythema marginatum), subcutaneous nodules, or involuntary movements (Sydenham's chorea), typically two to four weeks after a sore throat. In children the sore throat is often not remembered, so its absence does not exclude the diagnosis.

Established rheumatic heart disease

Established RHD may be silent for years, detected only on examination or screening echocardiography, before symptoms of the resulting valve disease emerge — breathlessness on exertion, fatigue, palpitations (often from atrial fibrillation), or heart-failure symptoms in advanced disease. Mitral stenosis characteristically declares itself when demand rises: in pregnancy, with infection, or when atrial fibrillation begins.

Recognising deterioration

New or worsening breathlessness, orthopnoea, palpitations, haemoptysis, or reduced exercise tolerance in known RHD indicate progression and warrant review. In a young person with RHD, a first episode of atrial fibrillation is a significant clinical event, not an incidental finding.¹

Diagnosis

Why diagnosis matters

Diagnosis of ARF triggers secondary prophylaxis, which is the intervention that prevents valve damage. Missing it forfeits that opportunity permanently. Because ARF is a clinical diagnosis with no single confirmatory test, and because its features overlap with common childhood illness, index of suspicion in high-incidence communities has to be deliberately high.¹

Diagnosing acute rheumatic fever

ARF is diagnosed using the Jones criteria, combining major and minor features with evidence of preceding streptococcal infection. Australian guidance applies modified, more sensitive criteria in high-risk populations, recognising that applying low-incidence thresholds in high-incidence communities systematically under-diagnoses the condition.¹

Echocardiography and screening

RHD is diagnosed and staged with echocardiography, using standardised World Heart Federation criteria that detect even mild, subclinical valve change and distinguish definite from borderline disease.⁴ These criteria underpin the echocardiographic screening programmes used in high-risk Australian communities to find RHD before symptoms develop.

Investigations for related conditions

Assessment includes ECG or ambulatory monitoring for atrial fibrillation, evaluation of pulmonary pressures, and dental review given the endocarditis risk on a damaged valve.

Management

Management and goals

The goals, in order of impact, are: prevent the first episode of ARF; prevent recurrence in anyone who has had it; detect and monitor valve disease; and treat established valve disease surgically when it becomes severe. The first two do more good than everything downstream of them.¹

Primary prevention

Prompt antibiotic treatment of proven or suspected streptococcal sore throat prevents the first episode of ARF. Alongside this sit the environmental measures — reducing household crowding, improving access to washing facilities and to timely primary care — which are the only interventions that address incidence rather than consequence.

Secondary prophylaxis

Everyone diagnosed with ARF or RHD is placed on long-term secondary antibiotic prophylaxis — regular intramuscular benzathine penicillin G injections, typically four-weekly, for a minimum of ten years or into adulthood depending on severity. Penicillin prophylaxis reduces recurrence of rheumatic fever, and intramuscular delivery is more effective than oral.⁵ In children and adolescents with latent RHD detected by screening, prophylaxis reduced progression of valve disease at two years compared with no prophylaxis — the trial result that justifies screening asymptomatic children at all.⁶

Managing established valve disease

Established disease is managed as valvular heart disease more broadly: medical therapy for heart failure and rate control for atrial fibrillation, percutaneous balloon mitral valvuloplasty for suitable mitral stenosis, and valve repair or replacement when disease becomes severe or symptomatic.⁷ Valve choice in young patients is a difficult trade-off between the durability of a mechanical valve and the burden and risk of lifelong warfarin, often in settings where INR monitoring is hard to access.

Identifying deterioration

Progressive breathlessness, new atrial fibrillation, haemoptysis, or falling exercise tolerance all indicate progression. Fever in a person with RHD should raise endocarditis, not be assumed to be a recurrence of rheumatic fever.

Action plan

1. Attend every scheduled penicillin injection — this is the single most protective action available.
2. Treat sore throats promptly, and encourage the same for household members.
3. Attend scheduled echocardiograms even when feeling well.
4. Report new breathlessness, palpitations, or reduced exercise tolerance.
5. Seek medical review for any unexplained fever, and tell clinicians about the valve condition.
6. Maintain dental hygiene and attend dental review.

Medications

Secondary prophylaxis

Four-weekly intramuscular benzathine penicillin G is the standard, with oral penicillin V reserved for those who cannot receive injections, as it is less effective.⁵ Injection pain is a leading and legitimate reason for non-adherence over a ten-year course, and is managed actively — warming the syringe, slow delivery, local anaesthetic — rather than dismissed. Adherence is a service-design problem as much as a patient one.⁶

Anticoagulation in rheumatic atrial fibrillation

This differs from non-rheumatic atrial fibrillation, and the difference is clinically important: in rheumatic mitral stenosis with atrial fibrillation, vitamin K antagonists remain the standard — a randomised trial of rivaroxaban in this population found worse outcomes than with warfarin.⁸ Direct oral anticoagulants should not be substituted here by analogy with other atrial fibrillation.

Heart failure and rate control

Diuretics, beta-blockers and standard heart-failure therapy are used according to the valve lesion and ventricular function, with the important caveat that rate control matters greatly in mitral stenosis, where a short diastole limits filling.

Multi-system manifestations

Joints

Migratory polyarthritis of the large joints is the commonest major feature of ARF. It is dramatic but self-limiting and leaves no permanent damage — the opposite of the cardiac involvement, which is quiet and permanent.

Central nervous system

Sydenham's chorea — involuntary movements, emotional lability and handwriting deterioration — may appear months after the infection, sometimes as the only feature. It resolves over weeks to months but is strongly associated with later valve disease, so it mandates prophylaxis in its own right.

Skin

Erythema marginatum and subcutaneous nodules are uncommon, easily missed on darker skin, and their absence carries no reassurance.

Consequences of chronic valve disease

Long-standing left-sided valve disease produces left atrial enlargement and atrial fibrillation, systemic thromboembolism and stroke, pulmonary hypertension and right heart failure. In pregnancy, previously tolerated mitral stenosis can decompensate as blood volume and heart rate rise, which is why pre-conception assessment matters.⁷

Living with rheumatic heart disease

Staying on prophylaxis

Adherence over a decade or more is the central challenge, and register-and-recall systems, community health workers, and flexible delivery locations are what make it achievable. Framing missed doses as a system failure rather than a personal one is both more accurate and more effective.⁶

Regular review

Periodic echocardiography tracks progression and times intervention, with intervals set by severity.⁴

Dental care and endocarditis prevention

A scarred valve is vulnerable to infection, so dental hygiene and access to dental care are part of cardiac care — and are frequently the least available service in the communities most affected.

Pregnancy

Pregnancy in moderate or severe mitral stenosis carries real risk and is planned in advance with cardiology and obstetrics. Contraception and pre-conception counselling are part of routine RHD care for women of reproductive age.⁷

Culturally safe care

Care that is delivered through Aboriginal Community Controlled Health Services, in language, with continuity of staff, achieves adherence that clinic-based care often does not. This is a clinical variable, not a courtesy.³

Prognosis

With reliable secondary prophylaxis, many people avoid further valve damage, and some early changes stabilise or partially regress, particularly in children.^5,6 Without prophylaxis, or with repeated ARF episodes, RHD progresses to severe valve disease requiring surgery, and it remains a significant cause of premature cardiovascular death in the communities most affected.² The outlook is determined less by biology than by access — which is why sustained prevention programmes matter as much as individual clinical care.

Role of the physiotherapist

Once valve disease is established, physiotherapy input mirrors that for valvular heart disease generally — individualised exercise advice graded to valve severity, and supervised cardiac rehabilitation before and after valve surgery, which improves exercise capacity after valve procedures.⁹ Monitoring for exertional breathlessness, palpitations and dizziness is part of every session, and a fall in measured capacity is worth reporting to the cardiology team.

Physiotherapists working in affected communities also contribute to prevention: reinforcing prompt sore-throat treatment, supporting prophylaxis adherence, and delivering care in a way that keeps people engaged with the health service over the many years this condition requires. In a disease whose outcome is largely determined by continuity of care, being a trusted, regularly seen clinician is itself a clinical contribution.

Warning signs

Part 1 · References

1. RHDAustralia (ARF/RHD writing group). The 2020 Australian guideline for prevention, diagnosis and management of acute rheumatic fever and rheumatic heart disease. 3rd ed. Darwin: Menzies School of Health Research; 2020.
2. Katzenellenbogen JM, Bond-Smith D, Seth RJ, et al. Contemporary incidence and prevalence of rheumatic fever and rheumatic heart disease in Australia using linked data: the case for policy change. J Am Heart Assoc 2020;9(19):e016851.
3. Watkins DA, Beaton AZ, Carapetis JR, et al. Rheumatic heart disease worldwide: JACC scientific expert panel. J Am Coll Cardiol 2018;72(12):1397–1416.
4. Reményi B, Wilson N, Steer A, et al. World Heart Federation criteria for echocardiographic diagnosis of rheumatic heart disease. Nat Rev Cardiol 2012;9(5):297–309.
5. Manyemba J, Mayosi BM. Penicillin for secondary prevention of rheumatic fever. Cochrane Database Syst Rev 2002;(3):CD002227.
6. Beaton A, Okello E, Rwebembera J, et al. Secondary antibiotic prophylaxis for latent rheumatic heart disease (GOAL). N Engl J Med 2022;386(3):230–240.
7. Vahanian A, Beyersdorf F, Praz F, et al. 2021 ESC/EACTS guidelines for the management of valvular heart disease. Eur Heart J 2022;43(7):561–632.
8. Connolly SJ, Karthikeyan G, Ntsekhe M, et al. Rivaroxaban in rheumatic heart disease-associated atrial fibrillation (INVICTUS). N Engl J Med 2022;387(11):978–988.
9. Sibilitz KL, Berg SK, Tang LH, et al. Exercise-based cardiac rehabilitation for adults after heart valve surgery. Cochrane Database Syst Rev 2016;(3):CD010876.

References are numbered in citation order (Vancouver/BMJ style) and were current at the time of writing. Guidelines are living documents — verify against the latest version before clinical use.