Familial atrial myxoma

General Information (adopted from Orphanet):

Synonyms, Signs: ATRIAL MYXOMA, FAMILIAL
Number of Symptoms 18
OrphanetNr: 615
OMIM Id: 255960
ICD-10: D15.1
UMLs: C1850635
MeSH: C538262
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
1540058 [IBIS]
Age of onset: Childhood
Adolescent
Adult
15151670 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac tumor
 -Rare genetic disease
Rare cardiac tumor
 -Rare cardiac disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001342) Cerebral hemorrhage Occasional [IBIS] 12%(n=14) 15151670 IBIS 24 / 7739
2
 (HPO:0002138) Subarachnoid hemorrhage Rare [IBIS] 4%(n=5) 15151670 IBIS 9 / 7739
3
 (HPO:0100598) Pulmonary edema 15151670 IBIS 17 / 7739
4
 (HPO:0002875) Exertional dyspnea 15151670 IBIS 29 / 7739
5
 (HPO:0001907) Thromboembolism 15151670 IBIS 15 / 7739
6
 (HPO:0011672) Cardiac myxoma Very frequent [IBIS] 15151670 IBIS 3 / 7739
7
 (HPO:0002140) Ischemic stroke Frequent [IBIS] 82%(n=93) 15151670 IBIS 70 / 7739
8
 (HPO:0001635) Congestive heart failure 15151670 IBIS 232 / 7739
9
 (HPO:0001699) Sudden death 15151670 IBIS 34 / 7739
10
 (HPO:0001279) Syncope Occasional [IBIS] 28%(n=32) 15151670 IBIS 94 / 7739
11
 (HPO:0012649) Increased inflammatory response 15151670 IBIS 2 / 7739
12
 (HPO:0000708) Behavioral abnormality Occasional [IBIS] 23%(n=26) 15151670 IBIS 212 / 7739
13
 (HPO:0001289) Confusion Occasional [IBIS] 15151670 IBIS 36 / 7739
14
 (HPO:0001259) Coma Occasional [IBIS] 9%(n=10) 15151670 IBIS 65 / 7739
15
 (HPO:0100543) Cognitive impairment Occasional [IBIS] 15151670 IBIS 230 / 7739
16
 (HPO:0002315) Headache Occasional [IBIS] 13%(n=15) 15151670 IBIS 175 / 7739
17
 (HPO:0001250) Seizures Occasional [IBIS] 12%(n=14) 15151670 IBIS 1245 / 7739
18
 (HPO:0012764) Orthopnea 15151670 IBIS 9 / 7739

Associated genes:

PRKAR1A

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PRKAR1A rs281864791 pathogenic RCV000013501.18

Additional Information:

Clinical Description OMIM Krause et al. (1971) treated a 34-year-old patient with a pulmonic valve myxoma complicated by bacterial endocarditis. A brother of the patient had died at age 25 years of left atrial myxoma. Two other sibs had had rheumatic ...
Molecular genetics OMIM Liebler et al. (1976) described a family in which 4 sibs had intracardiac myxomas. Kirschner et al. (2000), who stated that this family had no other manifestations of the Carney myxoma-endocrine complex (160980), demonstrated a specific mutation in ...