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| Disease found: | Endocardial fibroelastosis |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare heart disorder in infants and children leading to left ventricular hypertrophy and congestive heart failure (more info) |
| Signs and Symptoms: | Symptoms beginning age 4-12 months, including dyspnea, breathlessness, grunting during breathing, coughing, irritability, weakness, pallor, fatigue, failure to thrive, increased sweating, wheezing, peripheral cyanosis |
| Diagnosis: | Rales on exam, galloping heart rhythms, LVH on x-ray, echocardiogram |
| Treatment: | Diuretics, antiarrhythmics, anticoagulants, bed rest, heart transplantation |
| Clinical Management: | Genetic counseling and symptomatic treatment |
| Referral: | Cardiologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None currently recruiting on clinicaltrials.gov |