Cardiomyopathy- X-linked- fatal infantile
Overview
Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
Symptoms
The list of signs and symptoms mentioned in various sources for Cardiomyopathy, X-linked, fatal infantile includes the 7 symptoms listed below: * Cardiomyopathy * Infant death * Abnormal heart rhythm * Infant feeding problems * Progressive heart failure * Heart dysfunction * Dilated left heart ventricle
Causes
In this disease, B cells and B-cell precursors may be present in the bone marrow and peripheral blood, but a mutation in the B-cell protein tyrosine kinase causes failure of the B cells to mature and to secrete immunoglobulin. In the absence of protective immunoglobulins, the affected individual develops repeated infections. Worldwide, malnutrition is the primary cause of antibody disorders. Humoral immune deficiencies account for 50% of all primary immunodeficiencies. IgA deficiency is the most common antibody deficiency symdrome, followed by common variable immunodeficiency (CVID). The incidence of these two disorders is 1 in 700 persons.Selective IgM deficiency is rare. IgG4 deficiency occurs in 10% to 15% of the population.
Diagnosis
Home medical testing related to Cardiomyopathy, X-linked, fatal infantile: * High Blood Pressure: Home Testing * Home Blood Pressure Tests * Home Blood Pressure Monitors * Home Heart Tests * Heart Health: Home Testing: * Heart Rate Monitors * Irregular Heartbeat Detection * Heart Electrocardiogram (ECG) * Home Cholesterol Tests * Cold and Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests
Treatment
Treatment aims to prevent or control infections and to boost the patient’s immune response. Injection of immune serum globulin (gamma globulin, IV Ig) helps maintain immune response. Because these injections are painful, give them deep into a large muscle mass, such as the gluteal or thigh muscles, and massage well. If the dosage is more than 1.5 ml, divide it and inject it into more than one site; for frequent injections, rotate the injection sites. Because immune globulin is composed primarily of IgG, the patient may also need fresh frozen plasma infusions to provide IgA and IgM. Mucosal secretory IgA can’t be replaced by therapy, resulting in crippling pulmonary disease in many patients. Judicious use of antibiotics also helps combat infection; in some cases, chronic broad-spectrum antibiotics may be indicated. During acute infection, monitor the patient closely. Maintain adequate nutrition and hydration. Perform chest physiotherapy if required.