Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia.

Abstract

Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes.

• Authors: Takashi Kakuta, Tomoyuki Fujita, Satsuki Fukushima, Naonori Kawamoto, Yorihiko Matsumoto, Kizuku Yamashita, Yusuke Shimahara, Hatsue Ishibashi-Ueda, Mariko Harada-Shiba, Junjiro Kobayashi
• Journal: The Annals of thoracic surgery (Ann Thorac Surg) Vol. 105 Issue 4 Pg. e171-e174 (04 2018) ISSN: 1552-6259 [Electronic] Netherlands
• PMID: 29571349 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Topics

• Adult
• Aortic Stenosis, Supravalvular (diagnosis, etiology, surgery)
• Female
• Humans
• Hyperlipoproteinemia Type II (complications, diagnostic imaging, pathology)
• Male