Department of Cardiothoracic and Vascular Surgery, All India Institute of Medical Sciences, New Delhi, India.
Department of Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
World J Pediatr Congenit Heart Surg. 2020 Jul;11(4):NP221-NP225. doi: 10.1177/2150135118783639. Epub 2019 Jan 27.
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.
家族性纯合子高胆固醇血症是一种罕见疾病，临床表现多样，从早发性缺血性心脏病到主动脉根部狭窄不等，但由于主动脉瓣上和瓣下狭窄，很少出现心绞痛症状。我们报告了一例 19 岁男性家族性纯合子高胆固醇血症患者，患有进行性主动脉瓣上和瓣下狭窄，尽管采用了强化药物治疗，但最终仍需要进行主动脉根部扩大和机械假体主动脉瓣置换术。强调了这种罕见疾病的手术重要性。
