Department of Cardiac Anesthesia, Cardiothoracic Centre, All India Institute of Medical Sciences, New Delhi, India.
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
World J Pediatr Congenit Heart Surg. 2020 Jul;11(4):NP83-NP87. doi: 10.1177/2150135117702127. Epub 2017 Sep 27.
Homozygous familial hypercholesterolemia (HoFH; Fredrickson IIa) is a rare autosomal dominant hereditary disease associated with increased low-density lipoprotein cholesterol. We hereby report anesthetic challenges in a rare case of HoFH having severe progressive aortic stenosis, mitral regurgitation, diffuse aortic and carotid vessel involvement, and severe left ventricular dysfunction. The patient underwent a Konno aortoventriculoplasty with mechanical prosthesis along with mitral valve repair.
纯合子家族性高胆固醇血症（HoFH；弗雷德里克森 IIa 型）是一种罕见的常染色体显性遗传性疾病，与低密度脂蛋白胆固醇升高有关。本研究报告了一例罕见的 HoFH 合并严重进行性主动脉瓣狭窄、二尖瓣反流、弥漫性主动脉和颈动脉病变以及严重左心室功能障碍患者的麻醉挑战。该患者接受了 Konno 升主动脉-左心室成形术和机械假体二尖瓣修复术。
