Loeffler endocarditis

General Information (adopted from Orphanet):

Synonyms, Signs: Eosinophilic endocarditis
Number of Symptoms 14
OrphanetNr: 75566
OMIM Id:
ICD-10: I42.3
UMLs: C0206143
MeSH:
MedDRA: 10052841
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-familial restrictive cardiomyopathy
 -Rare cardiac disease

Comment:

CMR (cardiovascular magnetic resonance) may detect eosinophil-mediated cardiac injury at various stages of disease and highlight the potential to monitor the responsiveness to treatment. The cardiac pathology of HES (hypereosinophilic syndrome) has been temporally divided into three stages: early acute necrotic, then thrombotic, and finally a late fibrotic stage (PMID:21963210).

Symptom Information: Sort by abundance 

1
 (HPO:0001880) Eosinophilia Very often [IBIS] 17573694 IBIS 35 / 7739
2
 (HPO:0006685) Endocardial fibrosis Very often [IBIS] 16188499 IBIS 9 / 7739
3
 (HPO:0002875) Exertional dyspnea Occasional [IBIS] 21% (n=14) 21963210 IBIS 29 / 7739
4
 (HPO:0006683) Abnormal ventricular filling 23846825 IBIS 5 / 7739
5
 (HPO:0001713) Abnormality of cardiac ventricle 17573694 IBIS 4 / 7739
6
 (HPO:0001714) Ventricular hypertrophy 21963210 IBIS 20 / 7739
7
 (HPO:0006690) Myocardial calcification 16188499 IBIS 3 / 7739
8
 (HPO:0004308) Ventricular arrhythmia 26980214 IBIS 46 / 7739
9
 (HPO:0005115) Supraventricular arrhythmia 26980214 IBIS 13 / 7739
10
 (HPO:0005110) Atrial fibrillation 26980214 IBIS 71 / 7739
11
 (HPO:0001907) Thromboembolism 26980214 IBIS 15 / 7739
12
 (HPO:0001653) Mitral regurgitation 25712061 IBIS 64 / 7739
13
 (HPO:0005130) Restrictive heart failure 26980214 IBIS 2 / 7739
14
 (HPO:0001723) Restrictive cardiomyopathy 26980214 IBIS 22 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: