Case Presentation
A 67-year-old retired man from Brazil found himself admitted to the hospital in October 2021 due to his heart condition worsening.
History and Examination
Over the past two years, he had noticed a gradual shortness of breath even during mild activities, and this was classified as New York Heart Association functional class III. Swelling in his legs had also been troubling him during this time. Notably, he did not experience any chest pain, heart attack, stroke, high blood pressure, high cholesterol, or diabetes. He maintained a daily regimen of medications, including enalapril, spironolactone, furosemide, omeprazole, and ferrous sulfate.
His childhood was marked by an infection called schistosomiasis. He had a history of smoking and drinking, with a smoking habit of three packs per year over three years and a 15-year history of daily alcohol consumption (four standard drinks per day). However, he had quit smoking, and his last drink was a year prior to his hospitalization. His family history did not reveal any significant medical conditions.
During a physical examination, he was alert, and his vital signs were stable. Although he appeared slightly pale, there were no signs of fever, jaundice, or bluish discolouration. His weight, height, BMI, heart rate, and blood pressure were recorded within normal ranges. Doctors observed no enlargement of the neck veins. The cardiovascular examination picked up a murmur in the area of the heart’s mitral valve, along with infrequent crackling sounds in his lungs. Examinations of other systems were unremarkable, and his neurological evaluation revealed no issues. Peripheral pulses were detectable, but there was visible swelling in his lower limbs.
Investigations
An electrocardiogram (ECG) showed a regular heart rhythm with evidence of strain on the left atrium. An X-ray revealed an enlarged heart. Laboratory tests highlighted various parameters, including blood counts, glucose, kidney function, electrolyte levels, liver enzymes, and thyroid hormone levels. His urine analysis indicated normal findings.
An echocardiogram disclosed an increased thickness in certain parts of the heart’s walls, along with issues in the left ventricular apex, inflow tract, and mitral valve. Despite these concerns, his heart’s pumping capacity remained normal. Notably, a fibrous clot was found at the apex of his left ventricle.
Management: Endomyocardial fibrosis
A detailed examination of the cardiac condition utilizing advanced medical imaging techniques, specifically cardiac magnetic resonance imaging (MRI), uncovered significant anomalies in the left ventricle wall and atrium. This was associated with the detection of endomyocardial enhancement at the apex of the left ventricle. A further investigation revealed issues with the mitral valve, marked by regurgitation due to dilation of the annulus. Notably, a thrombus was identified at the apex of the left ventricle. Concurrently, a coronary angiography disclosed minor lesions in the right coronary artery, while the proximal section of the left anterior descending artery displayed severe lesions.
Subsequent to these comprehensive assessments, a diagnosis was reached. Doctors found that the patient was affected by endomyocardial fibrosis of the left ventricle, mitral valve regurgitation, thrombosis at the ventricular apex, and insufficient coronary artery functionality. To address this intricate condition, they performed open heart surgery. The procedure included a mitral valve replacement, endocardial decortication, endomyocardiectomy, and double coronary artery bypass grafting.
Recovery
Following the surgery, doctors closely monitored the patient in the intensive care unit (ICU). During this time, they were administered low doses of norepinephrine and dobutamine. Remarkably, by the fifth day, the administration of these medications was no longer necessary, and the patient was successfully taken off them. Subsequently, after seven days in the ICU, the patient was discharged from the hospital.
Histological analysis of tissue fragments extracted during the cardiac surgery revealed thickened endocardium infiltrating into the myocardium, as well as areas of calcification in the left ventricle and septum endocardium. Furthermore, microscopic inspection showed signs of fibrosis, hyalinization, neoformation of vascular tissue, areas of mononuclear inflammatory infiltrate, and calcification in the endomyocardial and mitral valve fragments, consistent with the initial diagnostic assumptions of endomyocardial fibrosis.
Over time, doctors observed progress in the patient’s health. A month after the surgery, a follow-up transthoracic echocardiography indicated an increase in the end-diastolic volume of the left ventricle. Importantly, this increase did not obstruct the left ventricle outflow tract. The prosthetic mitral valve exhibited normal functionality, and the patient displayed a slightly reduced ejection fraction of 52%.
Six months post-surgery, the patient’s condition had significantly improved. Classified as New York Heart Association (NYHA) Class I, the individual had minimal symptoms and continued their journey to recovery. His medication regimen included bisoprolol at 5 mg per day and furosemide at 20 mg per day, enabling him to achieve a more favourable quality of life.
Discussion: Endomyocardial Fibrosis
In this particular scenario, the patient’s condition was classified as NYHA III, signifying discomfort even at rest and fatigue, along with breathlessness and palpitations during minimal physical activity. The response to standard drug treatments was disappointing, reflecting the advanced nature of the disease. Notably, the inner lining of the left ventricle had been largely replaced by fibrous tissue, extending to the tendinous cords of the mitral valve. This resulted in constrictive dilated cardiomyopathy and regurgitation of the mitral valve. Additionally, complications such as thrombosis and calcification within the heart lining were evident. In response, the patient underwent surgical intervention, which confirmed the diagnosis of endomyocardial fibrosis (EMF) through pathological analysis.
Advancements in Management
Advances in imaging technologies have played a pivotal role in the early recognition of myocardial damage associated with EMF, significantly enhancing patient outcomes. Particularly, these developments are crucial for prompt identification and intervention. Furthermore, novel therapeutic agents targeting eosinophils, a type of white blood cell, hold promise for patients grappling with eosinophilic disorders. The monoclonal antibody imatinib emerges as a hopeful contender for EMF treatment. However, its efficacy is limited when heart failure has already manifested.
In conclusion, the diagnosis of EMF should remain on the radar when restrictive cardiomyopathy is suspected. Currently, available medical treatments, including diuretics, beta-blockers, and angiotensin-converting enzyme inhibitors, lack substantial evidence of effectiveness. Surgical interventions, therefore, demand the expertise of experienced medical teams. The evolving landscape of medical advancements continues to refine our approach to managing this complex cardiac condition.
