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诊断耗竭型肥厚型心肌病:女儿的表型巩固了父亲的诊断。

Diagnosing burned-out hypertrophic cardiomyopathy: Daughter's phenotype solidifies father's diagnosis.

作者信息

Rahmani George, Kraushaar Greg, Dehghani Payam

机构信息

School of Medicine, National University of Ireland, Galway, Ireland.

Department of Cardiology, Prairie Vascular Research Network, University of Saskatchewan, Regina, Canada.

出版信息

J Cardiol Cases. 2014 Nov 25;11(3):78-80. doi: 10.1016/j.jccase.2014.10.010. eCollection 2015 Mar.

Abstract

Patients with hypertrophic cardiomyopathy classically have preserved systolic function in the setting of impaired diastolic function and decreased left ventricular end-diastolic volume. However, in a small sub-population, patients paradoxically develop systolic dysfunction, left ventricular dilatation, and ventricular wall thinning. This pattern is one that is likened to dilated cardiomyopathy and is known as end-stage hypertrophic cardiomyopathy or "burned-out cardiomyopathy." The role of cardiac magnetic resonance imaging is well defined in narrowing the differential diagnosis of impaired left ventricular function, including that of hypertrophic cardiomyopathy. However, the importance of obtaining a family history and obtaining details of diagnosis for both preceding and future generations cannot be under-estimated. We report a case of end-stage hypertrophic cardiomyopathy that highlights how important family history can be in making a diagnosis. < While most cases of burned-out hypertrophic cardiomyopathy occur long after a patient has been initially seen and subsequently followed by cardiologists for hypertrophic cardiomyopathy, a small proportion of patients initially present with this entity. This is one such case, and it highlights the importance of thorough investigation into a patient's family history.>.

摘要

肥厚型心肌病患者通常在舒张功能受损和左心室舒张末期容积减小的情况下仍保持收缩功能。然而,在一小部分亚群中,患者却出现了矛盾的收缩功能障碍、左心室扩张和心室壁变薄。这种模式类似于扩张型心肌病,被称为终末期肥厚型心肌病或“衰竭性心肌病”。心脏磁共振成像在缩小左心室功能受损(包括肥厚型心肌病)的鉴别诊断范围方面作用明确。然而,获取家族史以及了解前代和后代的详细诊断情况的重要性不可低估。我们报告一例终末期肥厚型心肌病病例,该病例凸显了家族史在诊断中的重要性。<虽然大多数衰竭性肥厚型心肌病病例发生在患者最初就诊并随后由心脏病专家对肥厚型心肌病进行随访很长时间之后,但一小部分患者最初就表现为此种病症。本病例即属此类,它凸显了对患者家族史进行全面调查的重要性。>

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Images in cardiovascular medicine. Hypertrophic cardiomyopathy in monozygotic twins.
Circulation. 2002 May 7;105(18):2229. doi: 10.1161/01.cir.0000013097.84796.2a.
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Hypertrophic cardiomyopathy: a systematic review.肥厚型心肌病:一项系统综述。
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