TY - JOUR
T1 - Hutchinson-gilford progeria syndrome with severe calcific aortic valve stenosis and calcific mitral valve
AU - Nair, Krishnakumar
AU - Ramachandran, Padmakumar
AU - Krishnamoorthy, Kavassery M.
AU - Dora, Santhosh
AU - Achuthan, Tharakan J.
PY - 2004/9/1
Y1 - 2004/9/1
N2 - The case of a 12-year-old girl with clinical features of progeria with severe calcific valvar aortic stenosis is presented. The mitral valve showed the presence of calcium, and peripheral vascular disease was also present, though there was no family history of this. Aortic valve replacement was deferred because of insufficient data relating to this condition. The genetics and phenotypic mechanisms of the disease are reviewed. In view of the association of progeria with valve disease, all patients should undergo electrocardiography and echocardiography as part of their routine work-up.
AB - The case of a 12-year-old girl with clinical features of progeria with severe calcific valvar aortic stenosis is presented. The mitral valve showed the presence of calcium, and peripheral vascular disease was also present, though there was no family history of this. Aortic valve replacement was deferred because of insufficient data relating to this condition. The genetics and phenotypic mechanisms of the disease are reviewed. In view of the association of progeria with valve disease, all patients should undergo electrocardiography and echocardiography as part of their routine work-up.
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M3 - Review article
C2 - 15473493
AN - SCOPUS:7444228752
SN - 0966-8519
VL - 13
SP - 866
EP - 869
JO - Journal of Heart Valve Disease
JF - Journal of Heart Valve Disease
IS - 5
ER -