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endocardial fibroelastosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

endocardial fibroelastosis

MONDO:0009169

Also known as:ElastomyofibrosisEFEendomyocardial fibroelastosis

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal palate morphology, Micrognathia, Posteriorly rotated ears, and Telecanthus and others; and common findings: Cryptorchidism, Anterior hypopituitarism, Seizure, and Hypoplasia of penis. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis

Diagnosis

Biomarker and diagnostic research for endocardial fibroelastosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for endocardial fibroelastosis.

65 publications have been identified in PubMed for endocardial fibroelastosis. Research spans Case Report / Case Series (34%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	22	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:226000

Orphanet

European rare disease database

Orphanet:2022

GARD

Genetic and Rare Diseases Info Center

GARD:6336

Questions for Your Care Team

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Kisho

endocardial fibroelastosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

endocardial fibroelastosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications