endocardial fibroelastosis

MeSH: D004695ORPHA: 2022

Overview

endocardium disease that is characterized by endocardium becoming massively fibrosed and thickened wih elastic tissue resulting in a restrictive cardiomyopathy.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with endocardial fibroelastosis, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsAbnormal palate morphologyMicrognathiaTelecanthusCongestive heart failureRestrictive cardiomyopathySandal gapHypoglycemiaAbnormal helix morphologyAbnormal cardiovascular system morphologyCognitive impairmentCryptorchidismAnterior hypopituitarismSeizureHypoplasia of penisEndocardial fibroelastosis

Classification & Codes

MeSH Code

D004695

Orphanet Code

ORPHA:2022
endocardial fibroelastosis
MeSHD004695
OrphanetORPHA:2022
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO