Endomyocardial fibrosis is characterized by the formation of fibrous tissue in the endocardium. Although the disease may affect both ventricles, isolated or not, the right ventricle is more frequently involved. Endocardial fibrosis may be present in the entire ventricular cavity, being usually more marked in the apical region and right ventricular inflow tract. Its etiology, however, still remains unknown. Background—Reports on endomyocardial fibrosis in pediatric patients are not common. It is more frequent from the fourth year of age on, with few reports in the first 2 years of life. This case aimed at reporting right ventricular endomyocardial fibrosis in 7 days old male neonate, in addition to discussing the etiopathogenesis and future perspective of the disease.
Endomyocardial fibrosis (EMF) is principally a disease of children and young adults in Africa and other tropical areas, characterized by fibrosis of the ventricular endocardium and sub-endocardium that extends from the apex upwards, often involving the tricuspid and mitral valves. The fibrous tissue markedly diminishes the volume and compliance of affected chambers and so induces a restrictive functional defect. The etiology is unknown [
The incidence of EMF is highest in Sub-Saharan Africa and regional variations in distribution have been reported in other countries in tropical and subtropical regions. It has been reported in Nigeria, Uganda, Kenya, Tanzania, Mozambique, Gabon, Congo, Cameroon, Sudan, Cote d’Ivoire, Ghana, Brazil and India. Initial report from Nigeria was of the opinion that it occurs in hot and humid coastal areas [
The basic lesion of EMF is ventricular endocardial fibrosis. In fact, in 1938, Arthur Williams, the foundation professor of medicine at Mekerere University, Kampala, Uganda, had described two cases of mitral incompetence and correlated with large patches of fibrosis affecting the ventricular walls at necropsy and this is perhaps the earliest documentation of EMF in literature. The pathologist Jack NP Davies first coined the term endomyocardial fibrosis (EMF) in Uganda and described the classical four pathological features and its distribution in Africa [
Right ventricular endomyocardial fibrosis in neonate is uncommon and so this case had been reported.
A 7 days old male child was referred from neonatal intensive care unit for echocardiographic evaluation. A history of an episode of febrile illness affected the mother for one week duration during the 5th month of gestation of this first child. The child was dyspneic and the pulse rate was 124 bpm. Physical examination revealed bilateral rhonchi in the lung fields suggesting wheezing bronchitis. Cardiac examination revealed no abnormal findings clinically. Blood chemistry, X-ray chest and ECG were normal. The child was treated with antibiotics and bronchodilators and advised periodic follow up. Screening of family members revealed normal.
Transthoracic 2D echocardiographic images of the child revealed right ventricular apical fibrosis extending to the inflow of the tricuspid valve as shown in
The frequency of EMF cases in Uganda has a bimodal peak at age 10 and age 30 [
The etio-pathogenesis of EMF remains much of an enigma, with several unvalidated hypothesis ranging from infection, inflammatory and dietary causes as well as eosinophilic toxicity play a role in tropical regions. They include cerium deficiency, magnesium deficiency, cassava, malnutrition, parasitic diseases, viral diseases, autoimmunity, allergy, and ethnicity. The hypotheses postulated to explain the etiology of EMF have not been proven and cannot explain its occurrence worldwide.
Davies himself, who died in 1998 at the age of 83, believed to the end that EMF had a unifying explanation. He thought the clue perhaps lay in the similarity between the heart lesion in EMF and the endocarditis parietalis fibroplastica that Wilhem Loffler and others had described in Europe in the setting of hypereosinophilic syndromes [
By and large, the endomyocardial fibrosis could be a reaction pattern of the endocardium to a variety of insults [
Etiology | Causes |
---|---|
Infection | Toxoplasmosis |
Rheumatic fever | |
Malaria | |
Myocarditis | |
Helminthic parasites | |
Allergy | Eosinophilia |
Auto-immunity | |
Malnutrition | Protein deficiency |
Magnesium deficiency | |
Toxic Agents | Cerium |
Cassava | |
Thorium | |
Serotonin | |
Plant toxin | |
Vitamin D |
subacute phase and a chronic phase. Most of the patients come to clinical attention in the chronic burnt-out phase. The early part of the disease is rarely clinically recognized in India and the disease come to attention in the late stages and isolated endocardial involvement and intracardiac thrombi are the peculiar features [
Histology of the heart shows abnormalities in all 3 layers [
Echocardiography is the most valuable tool for the diagnosis of EMF [
In this neonate, transthoracic 2 D echocardiographic images showed fibrotic obliteration of the right ventricular apex and its extension into the inflow of the tricuspid valve as shown in
There is a history of febrile illness for one week duration during the 5th month of gestation in the antenatal period of mother of this child and echocardiography of mother revealed normal. The exact etiology of this febrile illness was unknown. Recent studies have demonstrated antibodies against myocardial proteins and a high incidence of cardiotrophic infectious agents like cytomegalovirus, Epstein-Barr virus and Toxoplasma gondii in affected patients suggesting a role of inflammation [
Echocardiographic screening of family members revealed normal even though they are living with same environmental exposure and dietary habits. Some unknown cardiotrophic infectious agents produce inflammatory mediators, cause immune mediated injury to the apical endocardium and inflow portion of the ventricles, result in fibrotic process obliterating the apex and affect the subvalvular apparatus similar to rheumatic process. Thus, future research must focus on identifying the strains of particular organisms responsible for this enigmatic disease worldwide.
Right ventricular endomyocardial fibrosis described by 2D echocardiographic images in a 7 days old male neonate is rare in the literature and it is detected in the coastal region of Thoothukudi in Tamil Nadu state at this tropical zone of India.
Ramachandran Muthiah, (2016) Right Ventricular Endomyocardial Fibrosis in Neonate—A Case Report. Case Reports in Clinical Medicine,05,170-175. doi: 10.4236/crcm.2016.55032