Endomyocardial fibrosis

Summary

Endomyocardial fibrosis (MONDO:0006746) is a disease and 4 clinical trials. Top therapeutic interventions include spironolactone. A subtype of restrictive cardiomyopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	endomyocardial fibrosis
Mondo ID	MONDO:0006746
EFO	EFO:1000921
MeSH	D004719
DOID	DOID:12932
ICD-11	365224859
NCIT	C34585
UMLS	C0553980
MedGen	107513
GARD	0006340
MedDRA	10014800
NORD	1092
Is cancer (heuristic)	no

Also known as: African endomyocardial fibrosis

Disease family

This is a subtype of restrictive cardiomyopathy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › restrictive cardiomyopathy › endomyocardial fibrosis

Related subtypes (2): familial restrictive cardiomyopathy, non-familial restrictive cardiomyopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01069510	PHASE2	COMPLETED	Spironolactone in Adult Congenital Heart Disease
NCT02124109	Not specified	COMPLETED	The Genetic Basis of Acquired Heart Disease in Africa
NCT02316587	Not specified	COMPLETED	Assessment of Myocardial Fibrosis in Aortic STenosis
NCT05090228	Not specified	COMPLETED	Right Ventricle Remodeling After Pulmonary Valve Replacement and Percutaneous Pulmonary Valve Insertion

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SPIRONOLACTONE	4	1