Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report.

• 发表时间: 07 2020
• 来源期刊: World J Pediatr Congenit Heart Surg
• DOI: 10.1177/2150135118783639
• PMID: 30686141
• 文章类型: Case Reports
• 作者列表: Chowdhury UK,Chauhan A,Hasija S,Jena JK,Sankhyan LK,Phulware R

关键词: aortic root enlargement; familial hypercholesterolemia; supravalvular aortic stenosis; valvular aortic stenosis

Mesh: Aortic Valve / diagnostic imaging surgery; Aortic Valve Stenosis / complications diagnosis surgery; Calcinosis / complications diagnosis surgery; Computed Tomography Angiography; Heart Valve Prosthesis Implantation / methods; Humans; Hyperlipoproteinemia Type II / complications; Male; Young Adult

Abstract

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted.