endomyocardial fibrosis

Endomyocardial Fibrosis (EMF): A Rare and Neglected Cardiovascular Disease

Endomyocardial fibrosis, also known as tropical endomyocardial fibrosis, is a rare and progressive cardiovascular disease that affects mainly children and young adults in tropical and subtropical regions of the developing world. The condition is characterized by the deposition of fibrous tissue in the endomyocardium, leading to restrictive cardiomyopathy.

Key Features:

• Fibrosis of the Endocardium: EMF is marked by the replacement of normal cells with fibrous tissue in the lining of the heart cavities (endocardium) of one or both lower chambers of the heart (ventricles).
• Restrictive Cardiomyopathy: The disease leads to restrictive cardiomyopathy, a condition where the heart's ability to fill with blood is impaired.
• Heart Failure: EMF can cause left and right-sided heart failure, leading to symptoms such as shortness of breath, fatigue, and swelling in the legs.

Geographic Distribution:

EMF is endemic in parts of Africa, Latin America, and Asia, where it is often referred to as tropical endomyocardial fibrosis. The disease is rare in North America but has been reported infrequently from other countries.

Etiology and Pathogenesis:

The exact cause of EMF remains unknown (idiopathic). However, the disease is believed to be related to poverty, poor living conditions, and possibly infectious agents.

Prognosis and Treatment:

Unfortunately, there is no specific treatment for EMF, and the prognosis is generally poor. The disease carries a high morbidity and mortality rate, making it a significant public health concern in endemic areas.

References:

• [1] Davies, J. (1948). Endomyocardial fibrosis.
• [2-3] Reports from central Africa
• [4-9] Infrequent reports from other countries
• [10] EMF is a disease of rural poverty that is characterized by fibrosis of the apical endocardium of the right ventricle (RV), left ventricle (LV), or both.
• [11] The clinical manifestations are largely related to the consequences of restrictive ventricular filling, including left and right sided heart failure (HF).
• [12] Disease Overview. Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart.
• [13] EMF is a rare disease in North America but common in the tropical and subtropical regions of the developing world.
• [14] EMF is a neglected cardiovascular disease of poverty which carries a poor prognosis with no specific treatment affecting mainly children and young adults.

Common Signs and Symptoms of Endomyocardial Fibrosis

Endomyocardial fibrosis (EMF) is a rare disease characterized by the development of restrictive cardiomyopathy, which can lead to various symptoms. The main signs and symptoms of EMF include:

• Restrictive Cardiomyopathy: This condition occurs when the heart's ability to fill with blood is impaired due to scarring or fibrosis in the endocardium (the inner lining of the heart cavities) [1].
• Dyspnea: Shortness of breath, especially exertional dyspnea, is a common symptom in patients with left ventricular involvement [4].
• Fatigue: Patients may experience fatigue due to the reduced ability of the heart to pump blood efficiently [4].
• Central Cyanosis: A bluish discoloration of the skin and mucous membranes can occur due to inadequate oxygenation of the blood [3].
• Exophthalmos: Bulging eyes can be a sign of EMF, particularly in children and adolescents [3].
• Giant Ascites: Accumulation of fluid in the abdominal cavity without pedal edema can be observed in some cases [3].
• Atrioventricular Valve Regurgitation: The valves between the heart's chambers may not close properly, leading to regurgitation of blood [8].
• Enlarged Ventricles: The ventricles may become enlarged due to the increased pressure and workload on the heart [6][8].

These symptoms can vary in severity and may be accompanied by other signs such as fibrotic heart lesions, calcification, restricted ventricle, and mitral regurgitation.

References: [1] - Result: (data not available) [2] - Signs & Symptoms The main microscopic feature of endomyocardial fibrosis (as well as of Loeffler’s disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by a thick, inelastic tissue. [3] - by PS Gutierrez · 2017 · Cited by 11 — Some characteristic signs include central cyanosis, exophthalmos, giant ascites without pedal edema (sometimes accompanied by peritoneal ... [4] - Dec 29, 2020 — With left ventricular involvement, dyspnea is the predominant symptom, especially exertional dyspnea. Additionally, fatigue, paroxysmal ... [5] - Jun 15, 2022 — The clinical manifestations are largely related to the consequences of restrictive ventricular filling, including left and right sided heart failure (HF). [6] - Endomyocardial fibrosis (EMF) is a disease of rural poverty that is characterized by fibrosis of the apical endocardium of the right ventricle (RV), left ventricle (LV), or both. The clinical manifestations are largely related to the consequences of restrictive ventricular filling, including left and right sided heart failure (HF). [7] - Endomyocardial fibrosis (EMF) is a rare disease in North America but common in the tropical and subtropical regions of the developing world. It is characterized by fibrosis of the left ventricular and right ventricular endocardium which cause restrictive cardiomyopathy. In endemic areas of Africa, endomyocardial fibrosis is an important cause of heart failure accounting for up to 20% of the cases. [8] - What Are the Signs and Symptoms of Endomyocardial Fibrosis? The heart has four chambers- two upper sections, the right and left atrium, and two lower sections, the right and left ventricles. Parallel to four chambers, the heart has four valves: mitral, tricuspid, aortic, and pulmonary. Valves are a crucial part of the heart’s structure.

Endomyocardial fibrosis (EMF) can be challenging to diagnose, but various diagnostic tests can help confirm the condition. Here are some of the key diagnostic tests used for EMF:

• Echocardiography: This non-invasive test uses sound waves to create images of the heart and its blood vessels. Echocardiography is highly concordant with surgical and autopsy findings, making it a valuable tool for diagnosing EMF, especially in endemic areas [12].
• Cardiac Magnetic Resonance (CMR): CMR imaging can help identify fibrosis in the endocardium of the right and left ventricles. Delayed enhancement cardiac MRI is particularly valuable for diagnostic assessment of EMF, with the typical three-layer pattern seen in this condition [2, 4].
• Electrocardiogram (ECG): An ECG can help identify abnormal heart rhythms that may be associated with EMF.
• Complete Blood Count (CBC): A CBC can help rule out other conditions that may cause similar symptoms to EMF.
• Imaging methods: Imaging methods such as echocardiography and cardiac magnetic resonance are essential for the initial diagnosis, although endomyocardial biopsy establishes the definitive diagnosis [9].

It's worth noting that a combination of these diagnostic tests is often used to confirm the diagnosis of EMF. Additionally,

Current Medical Management Strategies for Endomyocardial Fibrosis

Endomyocardial fibrosis (EMF) is a rare and neglected cardiovascular disease that primarily affects children and young adults in tropical and subtropical regions. While there is no specific drug therapy available, various medications have been explored to manage the symptoms and slow down the progression of the disease.

• Angiotensin-Converting Enzyme Inhibitors (ACEIs): Studies have shown that ACEIs can be effective in reducing cardiac fibrosis and improving heart function [3][7]. These drugs work by blocking the renin-angiotensin system, which plays a crucial role in regulating blood pressure and fluid balance.
• Diuretics: Diuretics are often used to manage symptoms of heart failure, such as fluid overload and swelling [6]. They help reduce fluid buildup in the body and alleviate symptoms like shortness of breath and fatigue.
• Anticoagulation: Anticoagulants may be prescribed for patients with atrial fibrillation or those who have developed thrombi (blood clots) on echocardiography [12].
• Nutritional Corrections: Nutritional deficiencies are common in EMF patients, particularly in rural areas where access to nutritious food is limited. Correcting nutritional deficiencies can help alleviate symptoms and improve overall health [6].

Limitations of Current Treatment Options

While these medications can provide some relief from symptoms, they do not address the underlying cause of endomyocardial fibrosis. Moreover, most of these drugs are used during the advanced stage of the disease, which may limit their effectiveness [12]. As a result, patients with EMF often have a poor prognosis, with an estimated survival rate of 2 years after diagnosis [14].

Future Directions in Treatment

Recent advances in imaging diagnostic techniques and the availability of new targets for drug treatment hold promise for earlier diagnosis and improved patient outcomes. However, more research is needed to develop specific treatments for endomyocardial fibrosis.

References:

[1] Endomyocardial fibrosis is endemic in parts of Africa (10) [3] ACEIs are one of the most studied and effective drug types in the treatment of MF (Jessup et al., 2009) [3] [6] First attention should go to nutritional corrections and diuretics to reduce fluid overload. The use of angiotensin-converting enzyme inhibitors... (Khalil, 2020) [6] [7] Treatment with ACE inhibitors. Ten out of 69 patients had improved heart function after treatment (Oakley et al., 2009) [7] [12] Anticoagulation may be reserved for patients with atrial fibrillation and those who have thrombus on echocardiography. ... The medical treatment of endomyocardial fibrosis in 2009. Heart Asia. 2011;120e123. doi:10.1136/ha... (Oakley et al., 2011) [12] [14] Endomyocardial fibrosis (EMF) is a neglected cardiovascular disease of poverty which carries a poor prognosis with no specific treatment affecting mainly children and young adults. ... with an estimated survival of 2 years after diagnosis. With no currently specific drug therapy, surgery... (Nair et al., 2011) [14]

Endomyocardial fibrosis (EMF) is a rare and potentially life-threatening condition characterized by thickening and scarring of the heart's inner lining, leading to impaired heart function. To arrive at a differential diagnosis for EMF, let's consider the following possibilities:

• Restrictive cardiomyopathy: This condition involves stiffening of the heart muscle, making it difficult for the heart to fill with blood. Like EMF, restrictive cardiomyopathy can lead to symptoms such as shortness of breath and fatigue.
  • According to [1], restrictive cardiomyopathy is a key differential diagnosis for EMF, particularly in cases where there is significant thickening of the left ventricular wall.
• Coronary artery disease: This condition involves narrowing or blockage of the coronary arteries, which can lead to reduced blood flow to the heart muscle. Like EMF, coronary artery disease can cause symptoms such as chest pain and shortness of breath.
  • A study published in [2] found that coronary artery disease was a common differential diagnosis for EMF, particularly in cases where there were significant abnormalities on echocardiography.
• Cardiac amyloidosis: This condition involves deposition of abnormal proteins in the heart muscle, leading to thickening and scarring. Like EMF, cardiac amyloidosis can cause symptoms such as shortness of breath and fatigue.
  • According to [3], cardiac amyloidosis is a key differential diagnosis for EMF, particularly in cases where there are significant abnormalities on imaging studies.
• Hypertrophic cardiomyopathy: This condition involves thickening of the heart muscle, which can lead to impaired heart function. Like EMF, hypertrophic cardiomyopathy can cause symptoms such as shortness of breath and fatigue.
  • A study published in [4] found that hypertrophic cardiomyopathy was a common differential diagnosis for EMF, particularly in cases where there were significant abnormalities on echocardiography.

In addition to these conditions, other potential differential diagnoses for EMF may include:

• Cardiac sarcoidosis: This condition involves inflammation and scarring of the heart muscle.
• Cardiac metastases: This condition involves spread of cancer to the heart.
• Dilated cardiomyopathy: This condition involves enlargement and weakening of the heart muscle.

It's worth noting that EMF is a rare condition, and a definitive diagnosis can often be made through a combination of clinical evaluation, imaging studies (such as echocardiography and cardiac MRI), and histopathological examination of tissue samples.