Tropical endomyocardial fibrosis
Synonyms: Davies disease · TEMF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardiomyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tropical endomyocardial fibrosis | Davies disease · TEMF |
| fr | Fibrose endomyocardique tropicale | Maladie de Davies · TEMF |
| de | Endomyokardfibrose, tropische | Davies-Krankheit · TEMF |
| es | Fibrosis endomiocárdica tropical | Enfermedad de Davies · FEM tropical |
| it | Fibrosi endomiocardica tropicale | Malattia di Davies · TEMF |
| nl | Tropische endomyocardfibrose | TEMF · Ziekte van Davies |
| pt | Fibrose endomiocárdica tropical | Doença de Davies · TEMF |
| pl | Tropikalne zwłóknienie wsierdzia | Choroba Daviesa · TEMF |
| cs | Tropická endomyokardiální fibróza | Daviesova nemoc · TEMF |
| uk | Тропічний ендоміокардіофіброз | Хвороба Девіса · TEMF |
| zh | 热带心内膜心肌纤维化 | Davies病 |
| tr | Tropikal endomiyokardiyal fibroz | TEMF · Davies hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I42.3 | NTBT | inclusion | validated |
| ICD-11 | BC43.20 | NTBT | index | validated |
| MONDO | 0019158 | E | validated | |
| UMLS | C2882252 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
48 annotations · validated 2021-01-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0006685 | Endocardial fibrosis | |
| Very frequent (99-80%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001723 | Restrictive cardiomyopathy | |
| Frequent (79-30%) | ||
| HP:0012249 | Abnormal ST segment | |
| HP:0011675 | Arrhythmia | |
| HP:0001541 | Ascites | |
| HP:0001678 | Atrioventricular block | |
| HP:0004326 | Cachexia | |
| HP:0001640 | Cardiomegaly | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0031295 | Left atrial enlargement | |
| HP:0011713 | Left bundle branch block | |
| HP:0025168 | Left ventricular diastolic dysfunction | |
| HP:0004395 | Malnutrition | |
| HP:0012764 | Orthopnea | |
| HP:0012398 | Peripheral edema | |
| HP:0006677 | Prolonged QRS complex | |
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0033114 | Quadruple gallop rhythm | |
| HP:0011712 | Right bundle branch block | |
| HP:0031664 | Systolic heart murmur | |
| Occasional (29-5%) | ||
| HP:0031595 | Abnormal P wave | |
| HP:0005135 | Abnormal T-wave | |
| HP:0031650 | Abnormal atrioventricular valve physiology | |
| HP:0005110 | Atrial fibrillation | |
| HP:0004749 | Atrial flutter | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0030149 | Cardiogenic shock | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0030783 | Increased circulating interleukin 6 concentration | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001653 | Mitral regurgitation | |
| HP:0006690 | Myocardial calcification | |
| HP:0010741 | Pedal edema | |
| HP:0000520 | Proptosis | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0011663 | Right ventricular cardiomyopathy | |
| HP:0001744 | Splenomegaly | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0001907 | Thromboembolism | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0005145 | Coronary artery stenosis | |
| HP:0031601 | P pulmonale | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31758352[PMID]_31414216[PMID]_30020665[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75565
- This record as JSON: /data/d/75565.json