Rheumatic Heart Disease in Adolescents: Clinical Case and Viva Q&A
1. Clinical Case of Rheumatic Heart Disease in Adolescents
Clinical Case: Rheumatic Heart Disease in an Adolescent
Patient Information
Name: Sarah J.
Age: 15 years
Gender: Female
Chief Complaint: Shortness of breath and fatigue
History of Present Illness
Sarah J., a 15-year-old female, presents to the pediatric cardiology clinic with complaints of progressive shortness of breath and fatigue over the past 3 months. She reports difficulty keeping up with her peers during physical education classes and has had to quit her school's soccer team due to these symptoms. Sarah also mentions occasional palpitations and two episodes of dizziness in the past month.
Past Medical History
- Recurrent strep throat infections during childhood
- Diagnosed with acute rheumatic fever at age 10, treated with antibiotics and anti-inflammatory medications
- No known allergies
Physical Examination
- Vital Signs: BP 110/70 mmHg, HR 88 bpm, RR 22/min, Temp 37.0°C, SpO2 97% on room air
- General: Alert, cooperative, mild pallor
- HEENT: No tonsillar erythema or exudates
- Cardiovascular: Regular rhythm, grade 3/6 systolic murmur at the apex radiating to the axilla, diastolic rumble at the lower left sternal border
- Respiratory: Clear to auscultation bilaterally
- Abdomen: Soft, non-tender, no hepatosplenomegaly
- Extremities: No edema, clubbing, or cyanosis
Investigations
- ECG: Sinus rhythm, left atrial enlargement, left ventricular hypertrophy
- Chest X-ray: Cardiomegaly with prominent left atrial appendage
- Echocardiogram: Severe mitral regurgitation, moderate mitral stenosis, mild aortic regurgitation, left atrial and left ventricular enlargement
- Blood tests: Elevated ESR (30 mm/hr), positive ASO titer (400 IU/mL), negative blood cultures
Diagnosis
Based on the patient's history of rheumatic fever, clinical presentation, and echocardiographic findings, Sarah is diagnosed with Rheumatic Heart Disease with predominant mitral valve involvement.
Management Plan
- Initiate penicillin prophylaxis (Benzathine penicillin G 1.2 million units IM every 4 weeks)
- Start medical management with diuretics (Furosemide) and ACE inhibitors (Enalapril)
- Refer for cardiac surgery evaluation for potential mitral valve repair or replacement
- Provide education on importance of adherence to prophylaxis and regular follow-ups
- Recommend endocarditis prophylaxis for high-risk procedures
- Schedule follow-up in 1 month with repeat echocardiogram
Prognosis
With appropriate medical management and timely surgical intervention, Sarah's prognosis can be significantly improved. However, she will require lifelong cardiac follow-up and continued prophylaxis against recurrent rheumatic fever.
2. Clinical Presentations of Rheumatic Heart Disease
Clinical Presentations of Rheumatic Heart Disease
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Asymptomatic Valve Lesions
Some patients may have no symptoms despite having significant valve damage. The disease is often discovered during routine physical examinations or when investigating other health issues.
- Heart murmur detected on routine examination
- Abnormal chest X-ray or ECG findings
- No overt symptoms of heart disease
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Mitral Regurgitation Predominant
This is one of the most common presentations in RHD, especially in the early stages.
- Dyspnea on exertion
- Fatigue and decreased exercise tolerance
- Palpitations
- Holosystolic murmur at the apex radiating to the axilla
- Possible signs of pulmonary hypertension in advanced cases
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Mitral Stenosis Predominant
This presentation is more common in later stages of the disease or in cases of recurrent rheumatic fever.
- Progressive dyspnea
- Orthopnea and paroxysmal nocturnal dyspnea
- Hemoptysis
- Diastolic rumble at the apex with presystolic accentuation
- Opening snap following S2
- Signs of right heart failure in advanced cases
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Aortic Regurgitation Predominant
While less common than mitral valve involvement, aortic regurgitation can occur in RHD.
- Exertional dyspnea
- Palpitations
- Angina-like chest pain
- Early diastolic murmur at the left sternal border
- Wide pulse pressure
- Corrigan's pulse (water-hammer pulse)
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Mixed Valve Disease
Many patients with RHD have involvement of multiple valves, leading to complex hemodynamic abnormalities.
- Combination of symptoms from different valve lesions
- Multiple murmurs on auscultation
- Signs of both left and right heart failure
- Complex echocardiographic findings
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Acute Rheumatic Fever Recurrence
Patients with RHD are at risk for recurrent episodes of acute rheumatic fever, which can present with:
- Fever
- Migratory polyarthritis
- Erythema marginatum
- Subcutaneous nodules
- Chorea
- Worsening of existing cardiac symptoms
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Heart Failure
Advanced RHD can lead to heart failure, presenting as:
- Severe dyspnea and orthopnea
- Peripheral edema
- Hepatomegaly and ascites
- Elevated jugular venous pressure
- Pulmonary rales
- Cardiomegaly
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Atrial Fibrillation
Chronic rheumatic valve disease, especially mitral stenosis, can lead to atrial fibrillation:
- Irregular pulse
- Palpitations
- Increased risk of thromboembolism
- Worsening of heart failure symptoms
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Infective Endocarditis
Patients with RHD are at increased risk of infective endocarditis, which can present as:
- Fever and chills
- Fatigue and malaise
- New or changing heart murmurs
- Petechiae or splinter hemorrhages
- Embolic phenomena
3. Viva Questions and Answers related to RHD
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Q: What is the pathogen responsible for rheumatic fever and subsequently rheumatic heart disease?
A: Rheumatic fever is caused by Group A beta-hemolytic Streptococcus pyogenes. It's an autoimmune response to this bacterial infection that leads to rheumatic heart disease.
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Q: What is the typical age range for the initial occurrence of acute rheumatic fever?
A: Acute rheumatic fever typically occurs in children aged 5-15 years. However, it can occur in younger children and adults as well, though less commonly.
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Q: What are the major criteria in the Jones criteria for diagnosing acute rheumatic fever?
A: The major criteria in the updated Jones criteria include:
- Carditis (clinical or subclinical)
- Arthritis (polyarthritis only in low-risk populations; monoarthritis or polyarthritis, plus polyarthralgia in moderate/high-risk populations)
- Chorea
- Erythema marginatum
- Subcutaneous nodules
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Q: How long after a streptococcal infection does acute rheumatic fever typically occur?
A: Acute rheumatic fever typically occurs 2-4 weeks after a Group A streptococcal pharyngitis infection.
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Q: Which heart valves are most commonly affected in rheumatic heart disease?
A: The mitral valve is most commonly affected, followed by the aortic valve. The tricuspid valve can also be involved, but the pulmonary valve is rarely affected.
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Q: What is the pathophysiological mechanism of valve damage in RHD?
A: The valve damage in RHD is caused by an autoimmune response where antibodies against streptococcal antigens cross-react with heart tissue, particularly valve tissue. This leads to inflammation, scarring, and eventual distortion of the valve architecture.
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Q: Describe the typical echocardiographic findings in rheumatic mitral stenosis.
A: Typical echocardiographic findings include:
- Thickened, immobile mitral valve leaflets
- Commissural fusion
- "Fish-mouth" or "hockey-stick" appearance of the mitral valve in diastole
- Reduced mitral valve area (<4 cm²)
- Increased transmitral gradient
- Left atrial enlargement
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Q: What is the recommended duration of secondary prophylaxis in a patient with rheumatic heart disease?
A: The duration of secondary prophylaxis depends on several factors, but generally:
- For patients with carditis and residual heart disease: At least 10 years after the last episode of acute rheumatic fever or until age 40, whichever is longer
- For patients with carditis but no residual heart disease: 10 years or until age 21, whichever is longer
- For patients without carditis: 5 years or until age 21, whichever is longer
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Q: What is the recommended antibiotic regimen for secondary prophylaxis in RHD?
A: The most commonly recommended regimen is:
- Benzathine penicillin G: 1.2 million units IM every 4 weeks (every 3 weeks in some high-risk populations)
- For penicillin-allergic patients: Erythromycin 250 mg orally twice daily
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Q: How does rheumatic carditis differ from infective endocarditis in terms of valve involvement?
A: In rheumatic carditis, valve leaflets become thickened and fibrotic, leading to stenosis and/or regurgitation. The chordae tendineae may also become thickened and shortened. In infective endocarditis, vegetations form on the valve leaflets, which can lead to destruction of the valve tissue and acute severe regurgitation.
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Q: What is the Aschoff body, and where is it found in rheumatic heart disease?
A: The Aschoff body is the pathognomonic lesion of acute rheumatic fever. It's a granulomatous lesion found in the myocardium, consisting of central fibrinoid necrosis surrounded by T lymphocytes, macrophages, and characteristic Anitschkow cells (also known as "owl-eye" cells).
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Q: What is the significance of elevated antistreptolysin O (ASO) titers in the diagnosis of acute rheumatic fever?
A: Elevated ASO titers indicate a recent streptococcal infection. They support the diagnosis of acute rheumatic fever but are not specific to it. ASO titers typically rise 1-3 weeks after infection and peak at 3-6 weeks. It's important to note that up to 20% of patients with acute rheumatic fever may have normal ASO titers.
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Q: Describe the characteristic murmur of mitral stenosis.
A: The characteristic murmur of mitral stenosis is:
- A low-pitched, rumbling, diastolic murmur
- Best heard at the apex with the patient in the left lateral decubitus position
- Often preceded by an opening snap
- Increases in intensity just before S1 (presystolic accentuation) in sinus rhythm
- Often accompanied by a loud S1
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Q: What is the significance of Carey Coombs murmur in acute rheumatic fever?
A: The Carey Coombs murmur is a short, mid-diastolic rumble heard at the apex in some patients with acute rheumatic carditis. It represents inflammation of the mitral valve and is usually transient, disappearing as the acute inflammation subsides. Its presence indicates active carditis in acute rheumatic fever.
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Q: How does rheumatic heart disease predispose patients to infective endocarditis?
A: Rheumatic heart disease predisposes patients to infective endocarditis through several mechanisms:
- Damaged valves provide a nidus for bacterial adherence
- Abnormal blood flow patterns across damaged valves create areas of endothelial damage
- Increased turbulence can lead to platelet-fibrin deposition, providing a substrate for bacterial colonization
- Chronic inflammation may alter local immune responses
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Q: What are the indications for surgical intervention in rheumatic mitral valve disease?
A: Indications for surgical intervention include:
- Severe symptomatic mitral stenosis (valve area <1.5 cm²)
- Asymptomatic severe mitral stenosis with pulmonary hypertension
- Severe mitral regurgitation with symptoms or signs of left ventricular dysfunction
- Asymptomatic severe mitral regurgitation with left ventricular ejection fraction ≤60% or end-systolic diameter ≥40 mm
- Recurrent thromboembolism despite adequate anticoagulation
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Q: What is the role of percutaneous mitral balloon valvuloplasty in the management of rheumatic mitral stenosis?
A: Percutaneous mitral balloon valvuloplasty is an effective treatment for selected patients with rheumatic mitral stenosis. It's indicated for:
- Symptomatic patients with moderate to severe mitral stenosis (valve area ≤1.5 cm²)
- Favorable valve morphology (pliable, non-calcified leaflets, minimal subvalvular involvement)
- Absence of left atrial thrombus
- Absence of significant mitral regurgitation
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Q: How does pregnancy affect women with rheumatic heart disease?
A: Pregnancy can significantly impact women with rheumatic heart disease:
- Increased cardiac output and blood volume can exacerbate symptoms
- Higher risk of heart failure, especially in the second and third trimesters
- Increased risk of arrhythmias, particularly atrial fibrillation
- Higher risk of thromboembolism
- Mitral stenosis is particularly problematic due to inability to increase cardiac output
- Need for careful anticoagulation management in mechanical valve recipients
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Q: What is the significance of the Austin Flint murmur in aortic regurgitation?
A: The Austin Flint murmur is a mid-to-late diastolic rumble heard best at the apex in patients with severe aortic regurgitation. It's caused by the regurgitant jet from the aortic valve striking the anterior mitral leaflet, causing it to vibrate and partially close. Its presence usually indicates severe aortic regurgitation and can sometimes be mistaken for mitral stenosis.
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Q: How does rheumatic heart disease contribute to the development of atrial fibrillation?
A: Rheumatic heart disease contributes to atrial fibrillation through several mechanisms:
- Left atrial enlargement due to mitral valve disease
- Increased left atrial pressure
- Fibrosis of the atrial wall
- Inflammatory changes in the atrial myocardium
- Disruption of normal atrial conduction pathways
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Q: What are the key differences between rheumatic and degenerative mitral valve disease?
A: Key differences include:
- Age of onset: Rheumatic typically younger, degenerative in older adults
- Valve morphology: Rheumatic shows commissural fusion and leaflet thickening, degenerative often involves prolapse or chordal rupture
- Pattern of involvement: Rheumatic often affects multiple valves, degenerative usually isolated to mitral valve
- Geographic distribution: Rheumatic more common in developing countries, degenerative in developed countries
- Associated findings: Rheumatic may have other Jones criteria, degenerative often associated with other age-related cardiovascular issues
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Q: What is the role of echocardiography in the long-term management of patients with rheumatic heart disease?
A: Echocardiography plays a crucial role in the long-term management of RHD:
- Assessment of disease progression
- Evaluation of ventricular function and dimensions
- Monitoring of pulmonary artery pressures
- Guiding timing of interventions (surgical or percutaneous)
- Post-intervention follow-up
- Screening for complications like vegetation or thrombus formation
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Q: How does rheumatic heart disease affect life expectancy, and what factors influence prognosis?
A: Rheumatic heart disease can significantly reduce life expectancy if left untreated. Factors influencing prognosis include:
- Severity and type of valve lesions
- Presence of complications (heart failure, atrial fibrillation, pulmonary hypertension)
- Age at onset and duration of disease
- Access to and adherence to secondary prophylaxis
- Availability of appropriate medical and surgical interventions
- Socioeconomic factors and healthcare access
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Q: What are the current global strategies for the prevention and control of rheumatic heart disease?
A: Current global strategies include:
- Primary prevention: Improving access to healthcare and treatment of streptococcal throat infections
- Secondary prevention: Registries for patients with RHD to ensure adherence to prophylaxis
- Echocardiographic screening programs in high-risk populations
- Improving access to cardiac surgery and interventional procedures in low- and middle-income countries
- Education and awareness programs for communities and healthcare providers
- Research into potential vaccine development against Group A Streptococcus
- Integration of RHD control into broader non-communicable disease programs
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Q: What is the role of biomarkers in the diagnosis and management of acute rheumatic fever and rheumatic heart disease?
A: Biomarkers play several roles in ARF and RHD:
- Diagnosis: ASO and anti-DNase B titers for recent streptococcal infection
- Inflammation: ESR and CRP for assessing acute phase response
- Cardiac involvement: Troponin for myocardial damage, BNP/NT-proBNP for heart failure
- Research: Novel biomarkers like PARF (peptide associated with rheumatic fever) are being studied for early diagnosis
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Q: How does socioeconomic status impact the prevalence and outcomes of rheumatic heart disease?
A: Socioeconomic status significantly impacts RHD:
- Higher prevalence in low- and middle-income countries and disadvantaged populations in high-income countries
- Overcrowding and poor housing conditions increase risk of streptococcal transmission
- Limited access to healthcare delays diagnosis and treatment of strep throat
- Barriers to secondary prophylaxis adherence in resource-limited settings
- Limited access to surgical and interventional treatments in low-income regions
- Lower awareness and health literacy in disadvantaged communities
