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Familial atrial myxoma

MedGen UID:
419902
Concept ID:
C2931787
Neoplastic Process
Synonyms: Intracardiac myxoma; Myxoma, Intracardiac
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PRKAR1A (17q24.2)
 
Monarch Initiative: MONDO:0009719
OMIM®: 255960
Orphanet: ORPHA615

Definition

Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema. [from ORDO]

Clinical features

From HPO
Cardiac myxoma
MedGen UID:
743314
Concept ID:
C1960546
Neoplastic Process
A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.
Pulmonic valve myxoma
MedGen UID:
870554
Concept ID:
C4025002
Neoplastic Process
A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.
Bacterial endocarditis
MedGen UID:
41779
Concept ID:
C0014121
Disease or Syndrome
A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial atrial myxoma

Professional guidelines

PubMed

Aval ZA, Ghaderi H, Tatari H, Foroughi M, Mirjafari SA, Forozeshfard M, Fani K, Khaheshi I
ScientificWorldJournal 2015;2015:303629. Epub 2015 Jan 26 doi: 10.1155/2015/303629. PMID: 25688375Free PMC Article
Zhang M, Ding L, Liu Y, Xue L
Pathol Res Pract 2014 Jan;210(1):55-8. Epub 2013 Oct 26 doi: 10.1016/j.prp.2013.09.018. PMID: 24238992

Recent clinical studies

Etiology

Schmidt C, Doi A, Ura M, Cole C, Mundy J
Ann Thorac Cardiovasc Surg 2017 Aug 20;23(4):203-206. Epub 2017 Mar 29 doi: 10.5761/atcs.cr.16-00169. PMID: 28367853Free PMC Article
Basson CT, MacRae CA, Korf B, Merliss A
Am J Cardiol 1997 Apr 1;79(7):994-5. doi: 10.1016/s0002-9149(97)00033-7. PMID: 9104925

Diagnosis

Schmidt C, Doi A, Ura M, Cole C, Mundy J
Ann Thorac Cardiovasc Surg 2017 Aug 20;23(4):203-206. Epub 2017 Mar 29 doi: 10.5761/atcs.cr.16-00169. PMID: 28367853Free PMC Article
Sun P, Wang ZB
Cardiol Young 2008 Oct;18(5):525-7. Epub 2008 Aug 18 doi: 10.1017/S1047951108002692. PMID: 18706136
Paşaoğlu I, Doğan R, Oram A, Ruacan S, Bozer Y
Eur J Cardiothorac Surg 1991;5(7):388-90. doi: 10.1016/1010-7940(91)90059-s. PMID: 1892670
Farah MG
Ann Intern Med 1975 Sep;83(3):358-60. doi: 10.7326/0003-4819-83-3-358. PMID: 1180432
Kleid JJ, Klugman J, Haas J, Battock D
Am J Cardiol 1973 Sep 7;32(3):361-4. doi: 10.1016/s0002-9149(73)80147-x. PMID: 4725591

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