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马伐卡坦对一名老年肥厚型心肌病患者减轻心脏梗阻的疗效:一项病例研究

Efficacy of Mavacamten in Reducing Cardiac Obstruction in an Elderly Patient with Hypertrophic Cardiomyopathy: A Case Study.

作者信息

Andre Nicolas, Galor Ariel, Testa Katie, Sumalbag Jericho, Manouchehri Shaya, Ben-Zur Uri Meir

机构信息

Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Am J Case Rep. 2025 Apr 18;26:e946956. doi: 10.12659/AJCR.946956.

DOI:10.12659/AJCR.946956
PMID:40249730
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12013959/
Abstract

BACKGROUND Mavacamten, a first-in-class cardiac myosin inhibitor, targets myosin adenosine triphosphatase to treat adults with moderate to severe symptomatic obstructive hypertrophic cardiomyopathy. Previous studies have demonstrated an approximate 50% reduction in left ventricular outflow tract pressure gradient in selected patients after 4 weeks of treatment. CASE REPORT We report the case of a 91-year-old man with hypertrophic cardiomyopathy, who presented with a longstanding history of progressive shortness of breath, unresponsive to treatment. After ruling out other potential causes such as coronary and pulmonary involvement, and performing serial ultrasound evaluations, we concluded that the worsening of his hypertrophic cardiomyopathy was the most likely underlying cause. After initiating Mavacamten therapy, the patient achieved a remarkable improvement, with over 80% reduction in left ventricular outflow tract obstruction observed within 4 weeks of treatment. He reports significant improvement in his shortness of breath both at rest and during daily activities. Dose titration and safety evaluation were performed through robust echocardiographic monitoring. CONCLUSIONS While our patient did not undergo genetic testing due to its high cost and limited clinical relevance, we believe that his remarkable response to this therapy may be linked to a genotype susceptibility enhancing the drug's pharmacodynamic effects, as suggested in the literature. This may have contributed to significant symptom relief and an improved quality of life. Further research is needed to better understand how genotype and phenotype influence treatment response, which could help refine our approach to optimizing non-invasive medical therapies.

摘要

背景

麦卡姆坦是一种一流的心肌肌球蛋白抑制剂,作用于肌球蛋白三磷酸腺苷酶,用于治疗患有中度至重度症状性梗阻性肥厚型心肌病的成人患者。先前的研究表明,部分患者在治疗4周后左心室流出道压力梯度降低了约50%。

病例报告

我们报告了一名91岁肥厚型心肌病男性患者的病例,他有长期进行性气短病史,治疗无效。在排除其他潜在病因(如冠状动脉和肺部病变)并进行系列超声评估后,我们得出结论,其肥厚型心肌病病情恶化是最可能的潜在病因。开始使用麦卡姆坦治疗后,患者病情显著改善,治疗4周内左心室流出道梗阻减轻超过80%。他自述静息和日常活动时气短症状均有显著改善。通过强有力的超声心动图监测进行剂量滴定和安全性评估。

结论

虽然由于成本高且临床相关性有限,我们的患者未进行基因检测,但我们认为,正如文献中所提示的,他对该治疗的显著反应可能与增强药物药效学作用的基因型易感性有关。这可能促成了症状的显著缓解和生活质量的改善。需要进一步研究以更好地理解基因型和表型如何影响治疗反应,这有助于优化我们的无创药物治疗方法。

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