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

Rheumatic heart disease (RHD) is a systemic immune condition that occurs after a beta-haemolytic streptococcal infection of the pharynx. RHD is a critical form of acquired heart disease most commonly seen in children and adults of developing countries. 

What is the cause of RHD?

Rheumatic heart disease is the result of valvular damage caused by an abnormal immune response to Streptococcus pyogenes infection, which is classified as a group A streptococcus that causes acute rheumatic fever in children. This is a type 2 hypersensitivity reaction. Acute rheumatic fever occurs around three weeks after group A streptococcal pharyngitis and can affect joints, skin, brain, and heart.

What is the pathophysiology of RHD? 

After multiple episodes of rheumatic fever, progressive fibrosis of heart valves can occur, which can lead to rheumatic valvular heart disease. Rigidity and deformity of valve cusps, fusion of the commissures, or shortening and fusion of the chordae tendineae may occur. Over 2 to 3 decades, valvular stenosis and/or regurgitation results. In chronic rheumatic heart disease, the mitral valve alone is the most commonly affected valve in an estimated 50% to 60% of cases. Combined lesions of both the aortic and mitral valves occur in 20% of cases. Involvement of the tricuspid valve occurs in about 10% of cases but only in association with mitral or aortic disease. Tricuspid valve cases are thought to be more common when recurrent infections have occurred. The pulmonary valve is rarely affected. [1] 

How common is RHD?

The World Health Organization states, “Rheumatic heart disease affects an estimated 55 million people worldwide and claims approximately 360,000 lives each year – the large majority in low- or middle-income countries”. [2] 

What are the symptoms of RHD?

A recent history of strep infection or rheumatic fever is key to the diagnosis of rheumatic heart disease. Symptoms of rheumatic fever vary. They typically start 1 to 6 weeks after a bout of strep throat. In some cases, the infection may have been too mild to be recognized. Or it may be gone by the time the person sees a healthcare provider.

Symptoms of Rheumatic fever may include:

• Fever
• Swollen, tender, red, and very painful joints (very often the knees and ankles)
• Lumps under the skin (nodules)
• Red, raised, lattice-like rash, often on the chest, back, and belly
• Uncontrolled movements of arms, legs, or facial muscles
• Weakness 

Shortness of breath and chest discomfort

Cardiac symptoms as a result of rheumatic fever may include:

• Chest pain 
• Fatigue
• Heart murmur
• Shortness of breath, with exercise, at rest, or when lying flat 
• Swelling in the stomach, hands, or feet
• Palpitations or cardiac arrhythmias like atrial fibrillation
• Coughing up blood [3] 

Is RHD contagious?

Rheumatic heart disease isn’t contagious. But strep throat is. This infection can lead to rheumatic fever, the cause of rheumatic heart disease.

How is RHD diagnosed?

Your healthcare provider will review your health history, especially any history of fevers or bacterial infections. Evaluation of symptoms and physical exam with additional tests can help to diagnose RHD.

• Blood tests to check for inflammation or a high immune response.
• Chest X-ray to check for signs of heart failure.
• Cardiac MRI may be used to get a more exact look at the heart valves and heart muscle.
• Echocardiogram (an ultrasound of your heart) to find leaky or narrowed heart valves.
• Electrocardiogram (EKG, a test of your heart’s electrical activity) to check for abnormal rhythms. 

How is RHD treated? 

Medication: Blood thinners, which are also known as anticoagulants, can be prescribed to reduce the risk of stroke or blood clots if you have a narrow mitral valve or atrial fibrillation. Your provider may also prescribe medication to manage heart failure or an abnormal heartbeat.

Procedure with minimal invasion: With mild narrowing of the Mitral valve, a provider can perform a valvuloplasty to widen the valve.

Surgery: For those having severe RHD, a valve replacement surgery is needed. Replacement valves can be homograft (valves from deceased human donors) or autografts (using the patient's own tissue). [4]