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Calcific aortic disease with immunologic abnormalities, familial

MedGen UID:
354631
•Concept ID:
C1861974
•
Disease or Syndrome
Synonym: Calcific Aortic Disease with Immunologic Abnormalities, Familial
 
Monarch Initiative: MONDO:0007246
OMIM®: 114065

Clinical features

From HPO
Aortic regurgitation
MedGen UID:
8153
•Concept ID:
C0003504
•
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
See: Feature record | Search on this feature
Aortic valve stenosis
MedGen UID:
1621
•Concept ID:
C0003507
•
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
See: Feature record | Search on this feature
Aortic valve calcification
MedGen UID:
140899
•Concept ID:
C0428791
•
Disease or Syndrome
Deposition of calcium salts in the aortic valve.
See: Feature record | Search on this feature
Increased circulating antibody level
MedGen UID:
1713383
•Concept ID:
C5397581
•
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

The syndrome of degenerative calcific aortic stenosis: prevalence of multiple pathophysiologic disorders in association with valvular stenosis and their implications.
Ramamurthi A, Pandian NG, Gangadharamurthy D, Urbano-Moral JA, Kuvin JT, Patel AR, Weintraub AR
Echocardiography 2013 Jan;30(1):1-7. Epub 2012 Sep 11 doi: 10.1111/j.1540-8175.2012.01799.x. PMID: 22963399

Diagnosis

The syndrome of degenerative calcific aortic stenosis: prevalence of multiple pathophysiologic disorders in association with valvular stenosis and their implications.
Ramamurthi A, Pandian NG, Gangadharamurthy D, Urbano-Moral JA, Kuvin JT, Patel AR, Weintraub AR
Echocardiography 2013 Jan;30(1):1-7. Epub 2012 Sep 11 doi: 10.1111/j.1540-8175.2012.01799.x. PMID: 22963399

Prognosis

The syndrome of degenerative calcific aortic stenosis: prevalence of multiple pathophysiologic disorders in association with valvular stenosis and their implications.
Ramamurthi A, Pandian NG, Gangadharamurthy D, Urbano-Moral JA, Kuvin JT, Patel AR, Weintraub AR
Echocardiography 2013 Jan;30(1):1-7. Epub 2012 Sep 11 doi: 10.1111/j.1540-8175.2012.01799.x. PMID: 22963399

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