解决综合复杂问题 一个引人注目的家族性高胆固醇血症案例研究

Shazia Rasheed, Ghulam Kubra, Lubna Baqai, Muhammad Liaquat Raza, Fariha Hassan, Syed Ghazi Abbas Rizvi
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引用次数: 0

摘要

家族性高胆固醇血症过早累及主动脉和综合管理策略 家族性高胆固醇血症(FH)是一种罕见的常染色体显性遗传疾病,由于容易导致低密度脂蛋白胆固醇升高、过早发生冠心病和血管动脉粥样硬化,因此面临着巨大的挑战。揭开心血管疾病的复杂面纱:一个惊人的家族性高胆固醇血症。本病例研究深入探讨了一名 16 岁女性的家族性高胆固醇血症,她因胸痛和呼吸困难恶化而就诊。诊断评估发现了明显的心电图改变、肌钙蛋白水平升高和严重的血脂异常。经胸超声心动图、计算机断层扫描血管造影和导管检查的显著发现促使患者接受多学科干预,并显示心室功能、二尖瓣反流和主动脉狭窄明显改善。该病例研究强调了综合管理策略在应对 FH 的无数挑战方面的紧迫性,强调了早期干预、创新疗法和严格的成像模式在揭示这种疾病错综复杂的心血管表现方面的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Addressing comprehensive complexities a striking familial hypercholesterolemia case study
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. 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. 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.
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