Journal of Clinical and Preventive Cardiology

CASE REPORT
Year
: 2019  |  Volume : 8  |  Issue : 1  |  Page : 34--37

Homozygous familial hypercholesterolemia with valvulopathy


Ashokan Nambiar1, Robin George Manappallil2, VG Pradeep Kumar3, Avinash Sarpamale2 
1 Department of Cardiology, Baby Memorial Hospital, Calicut, Kerala, India
2 Department of Internal Medicine, Baby Memorial Hospital, Calicut, Kerala, India
3 Department of Neurology, Baby Memorial Hospital, Calicut, Kerala, India

Correspondence Address:
Robin George Manappallil
Department of Internal Medicine, Baby Memorial Hospital, Calicut - 673 004, Kerala
India

Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipid metabolism. The occurrence of its homozygous form is rare. This is a case of a young girl who presented with syncope and was found to have multiple tuberous xanthomas and valvulopathy, along with deranged lipid profile, suggestive of homozygous FH.


How to cite this article:
Nambiar A, Manappallil RG, Pradeep Kumar V G, Sarpamale A. Homozygous familial hypercholesterolemia with valvulopathy.J Clin Prev Cardiol 2019;8:34-37


How to cite this URL:
Nambiar A, Manappallil RG, Pradeep Kumar V G, Sarpamale A. Homozygous familial hypercholesterolemia with valvulopathy. J Clin Prev Cardiol [serial online] 2019 [cited 2019 Aug 20 ];8:34-37
Available from: http://www.jcpconline.org/article.asp?issn=2250-3528;year=2019;volume=8;issue=1;spage=34;epage=37;aulast=Nambiar;type=0