History
A diagnosis of rheumatic heart disease is made after confirming antecedent rheumatic fever. Acute rheumatic fever is a systemic disease, thus, patients may present with a large variety of symptoms.
Many patients present with history of sore throat 1-5 weeks prior to disease onset (70% of older children and young adults). However, only 20% of younger children can recall an antecedent sore throat.
Other symptoms at time of presentation can include fever, rash, headache, weight loss, epistaxis, fatigue, malaise, diaphoresis, and pallor. Further symptoms can include chest pain with orthopenea, abdominal pain, and vomiting.
The patient history can also suggest symptoms more specific for rheumatic fever, such as the following:
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Migratory joint pain
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Nodules under the skin
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Increased irritability, shortened attention span, personality changes
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Motor dysfunction
Patients with a history of rheumatic fever are at high risk of recurrence. The highest risk of recurrence occurs within 5 years of the initial episode. The younger the patient at the time of the initial episode, the higher the risk of recurrence. Typically, recurrence of acute rheumatic fever is similar to the initial attack, however, the risk of carditis and severity of valvular damage worsens with each attack.
Diagnostic criteria
The modified Jones criteria, revised in 1992 and again in 2016, provide guidelines for making the diagnosis of rheumatic fever [29] . The newest update to the Jones criteria differentiates between low risk populations and moderate to high risk populations. Low risk populations are defined as an incidence of acute rheumatic fever in less than 2/100,000 school-aged children or all-age rheumatic heart disease prevalence of less than 1/1000 population per year. Moderate to high risk populations were defined as groups experiencing an incidence of 153-380/100,000 cases per year in the 5-14 year old age group. [29] The new criteria also include a role for echocardiography in addition to a clinical assessment of the heart for a diagnosis of carditis. These new guidelines are in closer alignment with other international guidelines such as those from the World Health Association.
For rheumatic fever, the requirement is for 2 major or 1 major and 2 minor criteria.
For recurrent rheumatic fever , the requirement is for 2 major, 1 major and 2 minor, or 3 minor criteria.
Evidence of previous group A streptococcal pharyngitis is necessary. Exceptions to this requirement can be made in patients with chorea and clinical or subclinical (echo diagnosis) evidence of carditis. Specific to recurrence of rheumatic fever, when minor manifestations alone are present, the exclusion of other more likely causes of the clinical presentation is recommended before diagnosing recurrent rheumatic fever.
The major diagnostic criteria:
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Carditis and valvulitis: Clinical and/or subclinical (echo) (50-70%)
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Polyarthritis: Typically a migratory polyarthritis primarily involving the large joints (35-66%)
- Monoarthritis or polyarthralgia are adequate to achieve a major diagnostic criteria in moderate/high risk population
- For polyarthraliga, exclusion of other more likely diagnosis is required
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Chorea (10-30%)
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Subcutaneous nodules (0-10%)
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Erythema marginatum (< 6%)
The minor diagnostic criteria:
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Fever ≥38.5°C
- Fever ≥38°C to achieve a minor diagnostic criteria in moderate/high risk populations
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Polyarthralgia
- Monoarthralgia is adequate to achieve a minor diagnostic criteria in moderate/high risk populations
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Prolonged PR interval for age on electrocardiography
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Elevated peak erythrocyte sedimentation rate during acute illness ≥60mm/h and/or C-reactive protein ≥3.0mg/dL
Evidence of previous group A streptococcal pharyngitis is required to diagnose rheumatic fever. One of the following must be present:
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Positive throat culture or rapid streptococcal antigen test result
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Elevated or rising streptococcal antibody titer (anti-streptolysin O titer or anti-DNAseB)
There are some notable exceptions to strict adherence to the Jones criteria.
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Chorea: This may occur late and be the only manifestation of rheumatic fever. Given this, it may be impossible to document previous group A strep pharyngitis.
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Indolent Carditis: Patients who present late to medical attention months after the onset of rheumatic fever may have insufficient support to fulfill the criteria.
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Newly ill patients with a history of rheumatic fever: Distinguishing recurrent carditis from pre-existing significant rheumatic heart disease may be impossible. This is especially true for patients with history of rheumatic heart disease who have supporting evidence of a recent GAS infection and who manifest either a single major or several minor criteria.
After a diagnosis of rheumatic fever is made, symptoms consistent with heart failure, such as difficulty breathing, exercise intolerance, and rapid heart rate out of proportion to fever may be indications of carditis and rheumatic heart disease.
Physical Examination
Physical findings in a patient with rheumatic heart disease include cardiac and noncardiac manifestations of acute rheumatic fever. Some patients go on to develop cardiac manifestations of chronic rheumatic heart disease.
Cardiac manifestations of acute rheumatic fever
Pancarditis is the most serious and second most common complication of rheumatic fever (50%). In advanced cases, patients may complain of dyspnea, mild-to-moderate chest discomfort, pleuritic chest pain, edema, cough, or orthopnea. For a graph illustrating the time course for the carditis relative to the other clinical manifestations of rheumatic fever, see the Medscape Reference article Pediatric Rheumatic Fever.
New or changing murmurs are considered necessary for a diagnosis of rheumatic valvulitis. Upon physical examination, carditis is most commonly detected by a new murmur and tachycardia out of proportion to fever. The murmurs of acute rheumatic fever are from valve regurgitation/insufficiency and the murmurs of chronic rheumatic fever are from valve stenosis. Some cardiologists have proposed that echocardiographic doppler evidence of mitral insufficiency, particularly in association with aortic insufficiency, may be sufficient for a diagnosis of carditis (even in the absence of accompanying auscultatory findings) [30] ; however, given the sensitivity of modern doppler devices, this remains controversial.
The following murmurs are most commonly observed during acute rheumatic fever:
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Apical pansystolic murmur is a high-pitched, blowing-quality murmur of mitral regurgitation that radiates to the left axilla. The murmur is unaffected by respiration or position. Intensity varies but is grade 2/6 or greater. The mitral insufficiency is related to dysfunction of the valve, chordae, and papillary muscles.
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Apical diastolic murmur (also known as a Carey-Coombs murmur) is heard with active carditis and accompanies severe mitral insufficiency. The mechanism for this murmur is postulated to be due to mitral valvulitis, relative mitral stenosis, as the large volume of regurgitant flow traverses the mitral valve during ventricular filling, or combination thereof. It is heard best with the bell of the stethoscope, while the patient is in the left lateral position and the breath held in expiration.
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Basal diastolic murmur is an early diastolic murmur of aortic regurgitation and is high-pitched, blowing, decrescendo, and heard best along the right upper and mid-left sternal border after deep expiration while the patient is leaning forward.
Congestive heart failure may develop secondary to severe valve insufficiency or myocarditis. The physical findings associated with heart failure include tachypnea, orthopnea, jugular venous distention, rales, hepatomegaly, a gallop rhythm, edema and swelling of the peripheral extremities.
Pericarditis can be demonstrated by the presence of a pericardial friction rub on exam. Increased cardiac dullness to percussion and muffled heart sounds are consistent with pericardial effusion. A paradoxical pulse (and accentuated fall in systolic blood pressure with inspiration) with decreased systemic pressure and perfusion and evidence of diastolic indentation of the right ventricle on echocardiogram reflect impending pericardial tamponade. Confirm this clinical emergency with ECG, and evacuate the effusion by pericardiocentesis if it is producing hemodynamic compromise.
Noncardiac manifestations of acute rheumatic fever
Polyarthritis is the most common symptom and is frequently the earliest manifestation of acute rheumatic fever (70-75%). Characteristically, the arthritis begins in the large joints of the lower extremities (knees and ankles) and migrates to other large joints in the upper (elbows and wrists) or lower extremities. Affected joints are painful, swollen, warm, erythematous, and limited in their range of motion. The pain is out of proportion to clinical findings. The arthritis reaches maximum severity in 12-24 hours, persists for 2-6 days (rarely more than 3 weeks) at each site. Aspirin rapidly improves symptoms in affected joints and prevents further migration of arthritis. Polyarthritis is more common and more severe in teenagers and young adults than in younger children. Patients suffering multiple attacks may exhibit destructive arthritis (Jaccoud arthritis).
Chorea, also known as rheumatic chorea, Syndenham chorea, chorea minor, and St. Vitus dance occurs in 10-30% of patients with rheumatic fever. This is slightly more common in females than it is in males. Patients present with difficulty writing, involuntary grimacing, purposeless (choreiform) movements of the arms and legs, speech impairment, generalized weakness and emotional lability. Physical findings include hyperextended joints, hypotonia, diminished deep tendon reflexes, tongue fasciculations ("bag of worms") and a "milk sign" or relapsing grip demonstrated by alternate increases and decreases in tension when the patient grips the examiner's hand.
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In the absence of a family history of Huntington chorea, the diagnosis of acute rheumatic fever is almost certain in patients with chorea. A long latency period of 1 to 6 months between streptococcal pharyngitis and the onset of chorea is observed. Given this, a history of an antecedent sore throat is frequently not obtained. In addition, patients with chorea often do not demonstrate other Jones criteria.
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Daily handwriting samples can be used as an indicator of progression or resolution of disease. Complete resolution of the symptoms typically occurs with improvement in 1-2 weeks and full recovery in 2-3 months. However, cases have been reported in which symptoms wax and wane for several years.
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Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) may be associated with chorea. Children have been identified in whom group A streptococcal infection appears to have triggered a relapsing-remitting symptom complex characterized by obsessive-compulsive disorder. Patients with Syndenham chorea and obsessive-compulsive symptoms tend to show aggressive, contamination, and somatic obsessions and checking, cleaning, and repeating compulsions. Neurologic abnormalities, such as cognitive defects and motoric hyperactivity can also occurs. The symptoms are prepubertal in onset and may include emotional lability, separation anxiety, and oppositional behaviors. Streptococcal infection has been proposed to trigger the formation of antibodies that cross-react with the basal ganglia of genetically susceptible hosts in a manner similar to the proposed mechanism for Sydenham chorea, thus causing the symptom complex.
Erythema marginatum, also known as erythema annulare, is a characteristic rash that occurs in 5-13% of patients with acute rheumatic fever. It begins as 1-3cm in diameter, pink-to-red nonpruritic macules or papules located on the trunk and proximal limbs but never on the face. The lesions spread outward to form a serpiginous ring with erythematous raised margins and central clearing. The rash may fade and reappear within hours and is exacerbated by heat. Thus, if the lesions are not well visualized, they can be accentuated by the application of warm towels, a hot bath, or the use of tangential lighting. The rash occurs early in the course of the disease and remains long past the resolution of other symptoms. Erythema marginatum also has been reported in association with sepsis, drug reactions, and glomerulonephritis. For an example of the typical rash of erythema marginatum, see the Medscape Reference article Pediatric Rheumatic Fever.
Subcutaneous nodules are currently an infrequent manifestation of rheumatic fever. The frequency has declined over the past several years to 0-8% of patients with rheumatic fever. When present, the nodules appear over the extensor surfaces of the elbows, knees, ankles, knuckles, and on the scalp and spinous processes of the lumbar and thoracic vertebrae where they are attached to the tendon sheath. They are firm, nontender, and free from attachments to the overlying skin and range in size from a few mm to 1-2 cm. They vary in number from one to dozens (mean 3-4). Histologically, they contain areas resembling the Aschoff bodies seen in the heart. Subcutaneous nodules generally occur several weeks into the disease and resolve within a month. These nodules are strongly associated with severe rheumatic carditis, and, in the absence of carditis, the diagnosis of subcutaneous nodules should be questioned.
Other clinical, noncardiac manifestations include abdominal pain, arthralgia, epistaxis, [31] fever, and rheumatic pneumonia.
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Abdominal pain usually occurs at the onset of acute rheumatic fever. This pain resembles abdominal pain from other conditions with acute microvascular mesenteric inflammation and may mimic acute appendicitis.
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Arthralgias can be reported upon presentation. It is important to determine if the patient has been taking nonsteroidal anti-inflammatory drugs (NSAIDs) or aspirin because these may suppress the full manifestations of the disease. Arthralgias cannot be considered a minor manifestation if arthritis is present.
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Epistaxis may be associated with severe protracted rheumatic carditis.
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Fevers above 39°C with no characteristic pattern are initially present in almost every case of acute rheumatic fever. Fever may be low-grade (38-38.5°C) in children with mild carditis or absent in patients with pure chorea. Fevers decrease without antipyretic therapy in about 1 week, but low-grade fevers persist for 2-3 weeks.
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Rheumatic pneumonia presents with the same signs as patients with infectious pneumonia. Rheumatic pneumonia should be differentiated from respiratory distress related to congestive heart failure.
Cardiac manifestations of chronic rheumatic heart disease
Mitral stenosis occurs in 25% of patients with chronic rheumatic heart disease and in association with mitral insufficiency in another 40%. Progressive fibrosis (ie, thickening and calcification of the valve) takes place over time, resulting in enlargement of the left atrium and formation of mural thrombi in that chamber. The stenotic valve is funnel-shaped, with a "fish mouth" resemblance. Upon auscultation, S1 is initially accentuated but becomes reduced as the leaflets thicken. P2 becomes accentuated, and the splitting of S2 decreases as pulmonary hypertension develops. An opening snap of the mitral valve often is heard at the apex, where a diastolic filling murmur also is heard.
Aortic stenosis from chronic rheumatic heart disease is typically associated with aortic insufficiency. The valve commissures and cusps become adherent and fused, and the valve orifice becomes small with a round or triangular shape. Upon auscultation, S2 may be single because the aortic leaflets are immobile and do not produce an aortic closure sound. The systolic and diastolic murmurs of aortic valve stenosis and insufficiency are heard best at the base of the heart.
Thromboembolism occurs as a complication of mitral stenosis. It is more likely to occur when the left atrium is dilated, cardiac output is decreased and the patient is in atrial fibrillation. The frequency of this complication has decreased with the use of anticoagulation and the development of surgical repair and balloon valvuloplasty techniques for addressing the valve abnormality.
Cardiac hemolytic anemia is related to disruption of the red blood cells by a deformed valve. Increased destruction and replacement of platelets also may occur.
Atrial arrhythmias are typically related to a chronically enlarged left atrium (from a mitral valve abnormality). Successful cardioversion of atrial fibrillation to sinus rhythm is more likely to be successful if the left atrium is not markedly enlarged, the mitral stenosis is mild and the patient has been in atrial fibrillation for less than 6 months. Patients should be anticoagulated before cardioversion to decrease the risk of systemic embolization.
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Pediatric rheumatic heart disease. This parasternal long-axis echocardiographic view demonstrates the typical systolic mitral insufficiency jet observed with rheumatic heart disease (blue jet extending from the left ventricle [LV] into the left atrium [LA]). The jet is typically directed to the lateral and posterior wall. Ao = aorta; RV = right ventricle.
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Pediatric rheumatic heart disease. This parasternal long-axis echocardiographic view demonstrates the typical diastolic aortic insufficiency jet observed with rheumatic heart disease (red jet extending from the aorta [Ao] into the left ventricle [LV]). LA = left atrium; RV = right ventricle.
