A patient with mutations in SMAD4 may develop a number of conditions including aortopathy and mitral valve disease.
Chromosome: 18q21.2
Gene: SAMD4 (mothers against decapentaplegic homolog 4)
Patients with SMAD4 mutations may have a combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT). This may be associated with telangiectasia and arteriovenous malformations (AVM).
Aortopathy may include:
(1) aortic root dilatation
(2) thoracic aortic aneurysm
(3) aortic dissection
The patient may also develop mitral valve dysfunction including mitral regurgitation.
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