Endocardial fibroelastosis

Title

Other Names:

Endomyocardial fibroelastosis

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2022

Disease definition

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.

Epidemiology

The incidence at birth is estimated at 1 in 5 000.

Clinical description

In the majority of cases, endomyocardial fibroelastosis is diagnosed at between 3 and 6 months of age. The cardiac insufficiency may be acute with a severe prognosis or chronic.

Etiology

The underlying cause of the sporadic cases is unknown: it may be associated with an antenatal viral infection, subendocardial ischemia or metabolic anomalies.

Genetic counseling

The primary form is mainly sporadic but 10% of cases are familial with all possible modes of transmission (autosomal dominant, autosomal recessive, X-linked).

Management and treatment

Treatment is the same as that used for cardiac insufficiency.

Visit the Orphanet disease page for more resources.

Last updated: 3/17/2006

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormality of the helix		0011039
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Hypoglycemia	Low blood sugar	0001943
Low-set, posteriorly rotated ears		0000368
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Restrictive cardiomyopathy		0001723
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Telecanthus	Corners of eye widely separated	0000506
30%-79% of people have these symptoms
Anterior hypopituitarism		0000830
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Hypoplasia of penis	Underdeveloped penis	0008736
Seizures	Seizure	0001250
5%-29% of people have these symptoms
Endocardial fibroelastosis		0001706
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Abnormality of the nervous system	Neurologic abnormalities Neurological abnormality [ more ]	0000707
Autosomal recessive inheritance		0000007
Cardiomyopathy	Disease of the heart muscle	0001638

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Last updated: 6/1/2019

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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