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解决综合复杂性:一个引人注目的家族性高胆固醇血症案例研究

Addressing comprehensive complexities a striking familial hypercholesterolemia case study.

作者信息

Rasheed Shazia, Kubra Ghulam, Baqai Lubna, Raza Muhammad Liaquat, Hassan Fariha, Rizvi Syed Ghazi Abbas

机构信息

Non-Invasive Cardiology at National Institute of Cardiovascular Diseases (NICVD), Rafiqui (H.J.) Shaheed Road, Karachi, 75510, Pakistan.

Tabba Heart Institute, Karachi, Pakistan.

出版信息

Egypt Heart J. 2024 Apr 20;76(1):51. doi: 10.1186/s43044-024-00483-5.

Abstract

BACKGROUND

Premature aortic involvement and comprehensive management strategies in familial hypercholesterolemia familial hypercholesterolemia (FH), a rare autosomal dominant genetic disorder, poses significant challenges due to its propensity for elevated low-density lipoprotein cholesterol, premature coronary heart disease, and vascular atherosclerosis.

CASE PRESENTATION

Unraveling Cardiovascular Complexities: A Striking Familial Hypercholesterolemia. This case study delves into a remarkable instance of FH in a 16-year-old female who presented with chest pain and worsening dyspnea. Diagnostic evaluation revealed distinct electrocardiographic changes, elevated troponin levels, and profound dyslipidemia. Remarkable findings on transthoracic echocardiography, computed tomography angiography, and catheterization prompted multidisciplinary interventions and demonstrated remarkable enhancements in ventricular function, mitral regurgitation, and aortic stenosis.

CONCLUSION

The case study underscores the urgency of comprehensive management strategies in confronting the myriad challenges of FH, emphasizing the value of early intervention, innovative therapies, and rigorous imaging modalities for unraveling the intricate cardiovascular manifestations of this condition.

摘要

背景

家族性高胆固醇血症(FH)是一种罕见的常染色体显性遗传病,由于其低密度脂蛋白胆固醇升高、早发性冠心病和血管动脉粥样硬化的倾向,给治疗带来了重大挑战。

病例报告

揭示心血管复杂性:一例典型的家族性高胆固醇血症。本病例研究深入探讨了一名16岁女性的FH显著病例,该患者出现胸痛和进行性呼吸困难。诊断评估显示出明显的心电图变化、肌钙蛋白水平升高和严重血脂异常。经胸超声心动图、计算机断层血管造影和心导管检查的显著发现促使多学科干预,并显示出心室功能、二尖瓣反流和主动脉狭窄有显著改善。

结论

该病例研究强调了在应对FH的众多挑战时采取综合管理策略的紧迫性,强调了早期干预、创新疗法和精确成像方式对于揭示该疾病复杂心血管表现的价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55f5/11032294/205b0fdad4e3/43044_2024_483_Fig1_HTML.jpg

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