Rheumatic Heart Disease

Quraish Fazleabas, DO Niwagaba Benifer, ECP & Joseph Leanza, MD
Department of Emergency Medicine, University of California Davis, Global Emergency Care, Department of Emergency Medicine, University of Pennsylvania

Clinical Presentation

History

A 28-year-old Ugandan man has had a many-month history of progressive exercise intolerance and orthopnea. He did not seek care, but volunteered to model for an ultrasound training session. He has no known past medical history. He is an emergency healthcare worker at a regional referral hospital.

Physical exam

General: Well developed, well nourished, well appearing male in no distress.
Neck: No JVD, tracheal deviation, lymphadenopathy, or thyromegaly. Full range of motion.
Cardiovascular: Regular rate and rhythm, low pitched diastolic murmur best heard left 4th intercostal space in the axillary line, bounding PMI at the left nipple.
Respiratory: Breathing comfortably on room air, mild increase in RR when laying flat, clear to auscultation bilaterally.
Abdomen: Soft, non-tender.
Musculoskeletal: No clubbing or edema.
Extremity: Warm and well perfused. Radial and deep peroneal pulses 2+ and symmetric.
Neurologic: No focal deficits, awake and alert.
Psychiatric: Positive outlook, coping well with diagnosis.

Imaging and Laboratory Information

Urinalysis: Yellow and clear, negative for: glucose, ketones, urobilinogen, nitrites, leukocyte esterase, and pH of 6.
Blood smear: No malaria parasites seen 1+Hpf
Hepatitis B surface antigen: Negative
HIV screen/RCT: Negative

Clinical Differential Diagnosis

1. Valvular disease
2. Hypertrophic obstructive cardiomyopathy
3. Pulmonary hypertension
4. Paroxysmal cardiac arrhythmia
5. Anemia
6. Intrathoracic mass
7. Myxomatous disease
8. Broncho-constrictive disease
9. Pulmonary infection
10. Pleural effusion

Ultrasound Imaging Findings

Trans-thoracic echocardiographic (TTE) parasternal long (PSL) view: normal appearing left ventricular systolic function with a severely restricted mitral valve identified by poor opening, bowing and rounding of the anterior leaflet of the mitral valve. Restricted posterior mitral leaflet. Consistent with mitral stenosis and rheumatic heart disease. TTE PSL view: normal appearing left ventricular systolic function with a severely restricted mitral valve identified by poor opening, bowing and rounding of the anterior leaflet of the mitral valve. Restricted posterior mitral leaflet. Consistent with mitral stenosis and rheumatic heart disease. TTE parasternal short (PSS) view at the level of the papillary muscles demonstrating chordal thickening. TTE PSS view at the level of the aortic valve with three leaflets and apparent focal thickening of two leaflets. TTE PSS view at the level of the mitral valve demonstrating severely restricted anterior leaflet. TTE apical four chamber view demonstrating severe mitral stenosis, restricted mitral valve with dilation of the left atrium. TTE apical four chamber view with color flow doppler demonstrating no significant mitral regurgitation and moderate aortic valve regurgitation.

Differential Diagnosis Based on Imaging

1. Mitral stenosis
   a. Rheumatic hear t disease
   b. Congenital mitral valve stenosis
   c. Sequelae of endocarditis
   d. Systemic inflammatory condition including rheumatoid arthritis, systemic lupus erythematosus
2. Aortic regurgitation
   a. Rheumatic heart disease
   b. Aortic aneurysm
   c. Aortic dissection
   d. Congenital aortic valvulopathy
   e. Hypertension
   f. Healed endocarditis
   g. Marfan's Syndrome
   h. Ehlers Danlos Syndrome
   i. Systemic inflammatory condition including ankylosing spondylitis, systemic lupus erythematosus

Clinical Course and/or Management

The patient was incidentally found to have severe mitral stenosis and moderate aortic regurgitation during an ultrasound training session. He followed up with the Uganda Heart Institute where a repeat ultrasound confirmed the diagnosis. He was started on Enalapril and furosemide for medical optimization. He also has a severe allergy to penicillin and therefore was started on erythromycin for continued primary and secondary Group A streptococcus and rheumatic fever prophylaxis. Given his severe valvular disease, it has been recommended that he proceeds with aortic and mitral valve replacements. Uganda performs mechanical valve replacements, but he was referred to Kenya for surgical repair. The patient has begun practicing dietary modifications in anticipation of lifelong warfarin therapy.

Diagnosis

Mitral stenosis and aortic regurgitation secondary to rheumatic heart disease

Discussion

Rheumatic heart disease is the most important form of acquired heart disease in children and young adults living in developing countries. The estimated prevalence of rheumatic heart disease was 3.4/100,000 in non-endemic countries and 444/100,000 in endemic countries. The disease moreover accounts for approximately 15% of heart failure in endemic countries and disproportionately affects those of low socioeconomic status. In Uganda in particular, the estimated prevalence of rheumatic fever / rheumatic heart disease among primary school children was about 1.5%.

Acute rheumatic fever typically develops two to four weeks after a streptococcal throat infection. Symptoms typically include fever, polyarthralgia, and erythema marginatum. Simultaneously, through a type II hypersensitivity process termed molecular mimicry, plasma cells are thought to produce antibodies against the endocardium, myocardium, and pericardium. The repeated endocardial inflammation with fibrous repair leads to valvular dysfunction, typically mitral regurgitation in the acute phase as well as mitral stenosis and aortic valvulopathies in the more chronic phases of illness. The pulmonic valve is less commonly involved.

Physical exam findings often include murmurs, signs or symptoms of congestive heart failure, or arrhythmia. Typical ultrasound findings of the mitral valve include anterior leaflet thickening (age-specific), chordal thickening, restricted leaflet motion, excessive leaflet tip motion during systole. Aortic valve findings are less specific and may include irregular or focal leaflet thickening, coaptation defects, restricted leaflet motion, and leaflet prolapse.

All patients with rheumatic heart disease should be given medications for cardiac optimization. Moreover, antibiotic prophylaxis for group A streptococcus and recurrent rheumatic fever are critical since recurrent infections increase the potential for chronic cardiac disease. The most important intervention is valve replacement. Unfortunately, the minimum cost of one open heart operation in Uganda is US $6,000, while the per-capita income in Uganda was approximately US $600 annually in 2013.

References

1. Watkins, David A., et al. "Global, Regional, and National Burden of Rheumatic Heart Disease, 1990–2015." New England Journal of Medicine , vol. 377, no. 8, 2017, pp. 713–722., doi:10.1056/nejmoa1603693.
2. Bocchi, E A, et al. "Cardiomyopathy, Adult Valve Disease and Heart Failure in South America." Heart , vol. 95, no. 3, 2008, pp. 181–189., doi:10.1136/hrt.2008.151225.
3. Damasceno, Albertino, et al. "The Causes, Treatment, and Outcome of Acute Heart Failure in 1006 Africans From 9 Countries." Archives of Internal Medicine , vol. 172, no. 18, 2012, p. 1386., doi:10.1001/archinternmed.2012.3310.
4. Longo-Mbenza, B, et al. "Survey of Rheumatic Heart Disease in School Children of Kinshasa Town." International Journal of Cardiology , vol. 63, no. 3, 1998, pp. 287–294., doi:10.1016/s0167-5273(97)00311-2.
5. Zhang, Wanzhu, et al. "Proportion of Patients in the Uganda Rheumatic Heart Disease Registry with Advanced Disease Requiring Urgent Surgical Interventions." African Health Sciences , vol. 15, no. 4, 2016, p. 1182., doi:10.4314/ahs.v15i4.17.
6. Reményi, Bo, et al. "World Heart Federation Criteria for Echocardiographic Diagnosis of Rheumatic Heart Disease—an Evidence-Based Guideline." Nature Reviews Cardiology , vol. 9, no. 5, 2012, pp. 297–309., doi:10.1038/nrcardio.2012.7.