Endomyocardial fibroelastosis
Overview
A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
Symptoms
* Low blood sugar * Mental retardation * Small jaw * Wide space between first two toes * Small penis
Causes
A specific single etiology of EMF has not been established. Suggested potential causes include the following: * Infectious causes o Parasites (eg, helminths) o Protozoans (eg, toxoplasmosis, malaria) * Inflammatory causes - Eosinophilia * Nutritional causes o General malnutrition o High-tuber diet o Ce toxicity o Hypomagnesemia
Diagnosis
Typically, endomyocardial fibrosis (EMF) has an insidious onset, and symptoms relate to the specific chambers and valves where the disease is most extensive. * When right ventricular involvement or tricuspid regurgitation predominates, lower extremity swelling, increasing abdominal girth, and nausea may be expected. * With left ventricular involvement, dyspnea is the predominant symptom, especially exertional dyspnea. Additionally, fatigue, paroxysmal nocturnal dyspnea, and orthopnea may be present. * Thromboembolic complications may occur in EMF. * Rarely, patients may present early in the course of the disease with an acute febrile illness with symptoms of cardiac insufficiency mimicking myocarditis.