Understanding Rheumatic Heart Disease: Causes, Symptoms, Diagnosis, and Treatment

Rheumatic Heart Disease (RHD) is a preventable yet serious condition that causes permanent damage to one or more heart valves. It usually develops after rheumatic fever, a complication of untreated or poorly treated group A streptococcal (strep) throat infections. Though its effects may take years to appear, RHD remains a leading cause of cardiovascular illness and death in young adults across developing regions.

Understanding what is rheumatic heart disease, its causes, and how to prevent it can save lives. This guide covers everything from the pathogenesis of rheumatic heart disease to its symptoms, diagnosis, and treatment—so patients and families can recognize risks early and seek timely care.

What Is Rheumatic Heart Disease?

Rheumatic heart disease refers to chronic valve damage caused by an autoimmune response following rheumatic fever. When the immune system attacks the heart’s own tissues, it leads to inflammation, scarring, and valve deformity – most commonly the mitral valve, and sometimes the aortic valve.

This process can result in valve narrowing (stenosis) or leakage (regurgitation), disrupting normal blood flow through the heart and leading to heart failure if untreated.

Rheumatic Heart Disease Causes

The primary rheumatic heart disease causes include:

Autoimmune reaction: After a strep throat infection, the body’s immune response mistakenly attacks heart tissue.
Repeated rheumatic fever attacks: Each episode worsens inflammation and scarring of the heart valves.
Socioeconomic factors: RHD remains common in regions with overcrowding, limited healthcare access, and poor sanitation.
Age and exposure: Most patients experience their first attack between 5–14 years, but chronic rheumatic heart disease can persist into adulthood.

Simply put, rheumatic heart disease is caused by a preventable bacterial infection that triggers an autoimmune chain reaction, damaging the heart.

Pathogenesis of Rheumatic Heart Disease

The pathogenesis of rheumatic heart disease involves:

Step 1: Infection by group A beta-hemolytic Streptococcus (strep throat).
Step 2: The immune system misidentifies heart valve proteins as bacterial antigens (molecular mimicry).
Step 3: Immune cells attack heart tissue, causing inflammation (rheumatic carditis).
Step 4: Healing leads to scarring, thickening, and fusion of valve leaflets – causing permanent dysfunction.

This immune-mediated damage explains why early antibiotic treatment of sore throats can prevent RHD entirely.

Rheumatic Heart Disease Symptoms

Early symptoms often appear years after the initial strep infection. Key rheumatic heart disease symptoms include:

Shortness of breath, especially while exerting or lying flat
Chest pain or palpitations (due to irregular heartbeat)
Fatigue and reduced exercise capacity
Swelling in the legs, feet, or abdomen
Persistent cough or recurrent respiratory infections
Dizziness or fainting in advanced cases

In acute rheumatic fever, early signs may include fever, joint pain, rash, and involuntary movements (chorea).

Signs of Rheumatic Heart Disease

Doctors may detect:

Heart murmurs from valve leaks or narrowing
Arrhythmias such as atrial fibrillation
Heart enlargement on chest X-ray or imaging
Fluid retention indicates heart failure

These signs of rheumatic heart disease often prompt detailed imaging studies to confirm the diagnosis.

Rheumatic Heart Disease Diagnosis

Diagnosis combines clinical assessment with confirmatory tests:

1. Physical Examination:

Detects murmurs, irregular rhythms, or signs of heart failure.
Evaluates the history of untreated sore throat or rheumatic fever.

2. Echocardiography (ECHO):

The gold-standard test showing valve thickening, fusion, or restricted motion. The World Heart Federation criteria categorize disease from early to advanced stages (A–D).

3. Additional Tests:

ECG: Detects arrhythmias or chamber enlargement.
Chest X-ray: Reveals cardiac enlargement and pulmonary congestion.
Blood tests: Elevated ASO titers or anti-DNase B confirm prior strep infection.

Early rheumatic heart disease diagnosis enables long-term management before irreversible valve damage occurs.

Rheumatic Heart Disease Treatment

Treatment focuses on controlling symptoms, preventing recurrence, and managing valve damage. The main rheumatic heart disease treatment strategies include:

1. Treating and Preventing Rheumatic Fever

Primary prevention: Immediate antibiotics (penicillin) for strep throat.
Secondary prophylaxis: Long-term penicillin injections every 3-4 weeks to prevent recurrence in RHD patients.

2. Medical Management

Heart failure control: Diuretics, ACE inhibitors, beta-blockers.
Arrhythmia control: Rate/rhythm management and anticoagulation for atrial fibrillation.
Infection prevention: Antibiotic prophylaxis for certain dental or surgical procedures.

3. Interventional and Surgical Management

Balloon Mitral Valvotomy (BMV): For rheumatic mitral stenosis with suitable anatomy.
Valve repair or replacement surgery: For severe or multi-valve disease, using mechanical or bioprosthetic valves.

4. Follow-Up and Monitoring

Regular echocardiography to assess valve function.
Lifelong anticoagulation for mechanical valve recipients.

Management of rheumatic heart disease requires collaboration among cardiologists, surgeons, and primary care providers.

Complications of Rheumatic Heart Disease

Without treatment, RHD can lead to:

Heart failure due to valve dysfunction
Atrial fibrillation and stroke
Infective endocarditis (infection of damaged valves)
Pregnancy complications in women with advanced disease
Pulmonary hypertension in chronic cases

Recognizing these complications of rheumatic heart disease early improves long-term survival.

Rheumatic Heart Disease Risk Factors

The major rheumatic heart disease risk factors include:

Repeated or untreated strep throat infections
Poor access to healthcare or antibiotics
Overcrowded living conditions
Malnutrition or poor immunity
Family or community history of rheumatic fever

Addressing these social and environmental factors is central to global RHD prevention strategies.

Chronic Rheumatic Heart Disease

When valve damage becomes permanent, the condition is known as chronic rheumatic heart disease. It can persist for decades and worsen gradually, leading to progressive heart failure, arrhythmias, and reduced quality of life. Lifelong follow-up and timely surgical intervention may be required to maintain cardiac function.

Rheumatic Heart Disease Prevention

Prevention is the most effective strategy against RHD. Key measures include:

Prompt treatment of every sore throat with antibiotics.
Regular prophylaxis for individuals with a history of rheumatic fever.
Improved hygiene and living conditions.
Community awareness and access to primary healthcare.

With early action, rheumatic heart disease prevention can save countless young lives, especially in developing countries.

Types of Rheumatic Heart Disease

RHD can affect one or multiple heart valves:

Mitral Valve Disease: Most common; causes mitral stenosis or regurgitation.
Aortic Valve Disease: May lead to aortic stenosis or insufficiency.
Tricuspid and Pulmonary Valve Disease: Rare, usually secondary to mitral damage.

Thus, types of rheumatic heart disease are classified based on which valves are involved and the nature of the defect (narrowing or leakage).

Sancheti Hospital: Comprehensive Care for Rheumatic Heart Disease

At Sancheti Hospital, we specialize in diagnosing and treating complex cardiac conditions like rheumatic heart disease. Our team of cardiologists and cardiac surgeons focuses on early detection, evidence-based management, and long-term follow-up to prevent complications.

Whether you need rheumatic heart disease diagnosis, preventive care, or advanced surgical management, our experts are here to help. Through timely intervention and compassionate support, Sancheti Hospital ensures every patient can live a healthier, heart-strong life.