一名患有家族性高胆固醇血症的儿童出现早期严重冠状动脉疾病和主动脉缩窄。
Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.
作者信息
Labib Dina, Soliman Haytham, Said Kareem, Sorour Khaled
机构信息
Department of Cardiovascular Medicine, Cairo University, Giza, Egypt.
出版信息
BMJ Case Rep. 2016 Nov 30;2016:bcr2016216147. doi: 10.1136/bcr-2016-216147.
Abstract
An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Medical treatment resulted in significant improvement of dyslipidaemia. We successfully performed balloon dilation and stenting of his coarctation, as well as percutaneous coronary intervention for RCA lesion.
摘要
一名11岁男孩出现易疲劳、多处黄瘤及足背动脉搏动消失。实验室检查显示严重高胆固醇血症，无创成像显示“功能正常”的二叶式主动脉瓣及严重主动脉缩窄。冠状动脉造影显示严重的右冠状动脉（RCA）狭窄。药物治疗使血脂异常有显著改善。我们成功地对其主动脉缩窄进行了球囊扩张及支架置入，并对RCA病变进行了经皮冠状动脉介入治疗。
相似文献
1
Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.
BMJ Case Rep. 2016 Nov 30;2016:bcr2016216147. doi: 10.1136/bcr-2016-216147.
2
Multiple xanthomas in a young male with familial hypercholesterolaemia.
Postgrad Med J. 2009 Feb;85(1000):111. doi: 10.1136/pgmj.2008.074690.
3
Familial hypercholesterolaemia IIA with bicuspid aortic valve.
J Assoc Physicians India. 2013 Nov;61(11):827-9.
4
Coronary angioplasty in an adult with acute myocardial infarction and aortic coarctation diagnosed during catheterization.
J Cardiovasc Med (Hagerstown). 2012 Mar;13(3):209-10. doi: 10.2459/JCM.0b013e32834abf18.
5
Coarctation of the aorta diagnosed by cardiac computed tomography angiography in a 49-year-old man presenting with acute myocardial infarction.
Int J Cardiovasc Imaging. 2016 Apr;32(4):655-7. doi: 10.1007/s10554-015-0808-6. Epub 2015 Nov 20.
6
Off-Pump Double Coronary Bypass in a Case of Familial Hypercholesterolemia With Coarctation of the Aorta.
World J Pediatr Congenit Heart Surg. 2016 May;7(3):400-3. doi: 10.1177/2150135115593130. Epub 2016 Jan 21.
7
Familial hypercholesterolemia with coarctation of aorta.
J Postgrad Med. 2007 Jul-Sep;53(3):185-6. doi: 10.4103/0022-3859.33863.
8
Percutaneous balloon dilatation of mitral valve stenosis and aortic coarctation.
J Invasive Cardiol. 2002 Dec;14(12):767-9.
9
The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young.
Cardiol Young. 2009 Jun;19(3):257-63. doi: 10.1017/S1047951109003989. Epub 2009 Apr 6.
10
Triple coronary artery bypass graft in a 10-year-old child with familial hypercholesterolemia.
Gen Thorac Cardiovasc Surg. 2009 Feb;57(2):94-7. doi: 10.1007/s11748-008-0335-7. Epub 2009 Feb 12.
引用本文的文献
1
Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population.
Clin Exp Pediatr. 2022 Aug;65(8):410-416. doi: 10.3345/cep.2021.00598. Epub 2021 Dec 8.
本文引用的文献
1
Off-Pump Double Coronary Bypass in a Case of Familial Hypercholesterolemia With Coarctation of the Aorta.
World J Pediatr Congenit Heart Surg. 2016 May;7(3):400-3. doi: 10.1177/2150135115593130. Epub 2016 Jan 21.
2
The impact of proprotein convertase subtilisin-kexin type 9 serine protease inhibitors on lipid levels and outcomes in patients with primary hypercholesterolaemia: a network meta-analysis.
Eur Heart J. 2016 Feb 7;37(6):536-45. doi: 10.1093/eurheartj/ehv563. Epub 2015 Nov 17.
3
Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.
Nat Commun. 2015 Jun 17;6:7339. doi: 10.1038/ncomms8339.
4
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22.
5
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
Eur Heart J. 2013 Dec;34(45):3478-90a. doi: 10.1093/eurheartj/eht273. Epub 2013 Aug 15.
6
Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study.
Lancet. 2013 Jan 5;381(9860):40-6. doi: 10.1016/S0140-6736(12)61731-0. Epub 2012 Nov 2.
7
Indications for cardiac catheterization and intervention in pediatric cardiac disease: a scientific statement from the American Heart Association.
Circulation. 2011 Jun 7;123(22):2607-52. doi: 10.1161/CIR.0b013e31821b1f10. Epub 2011 May 2.
8
Acquired atheromatous coarctation of the aortic arch.
Proc (Bayl Univ Med Cent). 2011 Jan;24(1):15-6. doi: 10.1080/08998280.2011.11928676.
9
Familial hypercholesterolemia with coarctation of aorta.
J Postgrad Med. 2007 Jul-Sep;53(3):185-6. doi: 10.4103/0022-3859.33863.
10
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Nat Clin Pract Cardiovasc Med. 2007 Apr;4(4):214-25. doi: 10.1038/ncpcardio0836.
Zotero 插件