Papillary fibroelastoma of the heart
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Cardiac papillary fibroelastoma |
| Number of Symptoms | 10 |
| OrphanetNr: | 208600 |
| OMIM Id: |
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| ICD-10: |
D15.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 725 cases - PMID: 12947356 [IBIS] |
| Inheritance: |
Sporadic - PMID: 12947356 [IBIS] |
| Age of onset: |
All ages - PMID: 12947356 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare cardiac tumor
-Rare cardiac disease -Rare oncologic disease |
Comment:
| Cardiac papillary fibroelastomas are effecting the cardiac valves, and account for three fourth of all cardiac valvular tumors. The majority of patients are asymptomatic. |
Symptom Information:
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(HPO:0000618) | Blindness | Rare [IBIS] | 1% (n=725) | 12947356 | IBIS | 124 / 7739 |
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(HPO:0001279) | Syncope | Rare [IBIS] | 3% (n=725) | 12947356 | IBIS | 94 / 7739 |
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(HPO:0001681) | Angina pectoris | Rare [IBIS] | 7% (n=725) | 12947356 | IBIS | 22 / 7739 |
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(HPO:0001658) | Myocardial infarction | Rare [IBIS] | 4% (n=725) | 12947356 | IBIS | 30 / 7739 |
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(HPO:0001635) | Congestive heart failure | Rare [IBIS] | 3% (n=725) | 12947356 | IBIS | 232 / 7739 |
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(HPO:0001297) | Stroke | Occasional [IBIS] | 17% (n=725) | 12947356 | IBIS | 44 / 7739 |
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(HPO:0100544) | Neoplasm of the heart | Very frequent [IBIS] | 12947356 | IBIS | 7 / 7739 | |
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(HPO:0001907) | Thromboembolism | Rare [IBIS] | 0.5% (n=725) | 12947356 | IBIS | 15 / 7739 |
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(HPO:0002204) | Pulmonary embolism | Rare [IBIS] | 0.5% (n=725) | 12947356 | IBIS | 26 / 7739 |
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(HPO:0001699) | Sudden death | Rare [IBIS] | 3% (n=725) | 12947356 | IBIS | 34 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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