Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis and calcific mitral valve.
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.
Sree Chitra Thirunal Institute for Medical Sciences and Technology, Trivandrum, India. drkn14@sify.com
Krishnakumar
K
Nair
Padmakumar
P
Ramachandran
Kavassery M
KM
Krishnamoorthy
Santhosh
S
Dora
Tharakan J
TJ
Achuthan
D001024:Aortic Valve Stenosis / Q000209:etiology; D002114:Calcinosis / Q000000981:diagnostic imaging*; D002648:Child; D004452:Echocardiography; D005260:Female; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D008943:Mitral Valve / Q000000981:diagnostic imaging; D011371:Progeria / Q000150:complications*