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An unusual case of familial hypertrophic cardiomyopathy with left ventricular systolic dysfunction: a still unsolved diagnosis

机译：家族性肥厚型心肌病伴左心室收缩功能异常的罕见病例：诊断仍未解决

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A 35-year-old woman was referred to our centre for clinical management of hypertrophic cardiomyopathy (HCM) with left ventricular (LV) systolic dysfunction (end-stage evolution). She was recently diagnosed elsewhere because of palpitations. Her 7-year-old daughter underwent familiar screening and she was diagnosed with classic HCM. She was completely asymptomatic without extracardiac or systemic manifestations. During the following years, they both experienced a similar clinical course with worsening dyspnoea and progressive deterioration of LV systolic function. They both underwent heart transplantation, the mother at the age of 47 and the daughter at the age of 23, respectively. Many diagnostic hypotheses, including sarcomeric HCM, Anderson-Fabry disease, glycogen storage diseases and mitochondrial cardiomyopathies have been taken into account. The diagnostic work-up included serial electrocardiogram and echocardiographic assessments, pathologic evaluation of the explanted hearts and genetic analysis of 8 sarcomeric and 3 metabolic genes. Even if a shared HCM phenotype (LV systolic dysfunction in two first-degree female family members associated with a likely autosomal dominant inheritance and absence of extracardiac or multisystemic manifestations) could support a temptative diagnosis of sarcomeric HCM , a definitive diagnosis could not be reached, due to the lack of genetic analysis to confirm such diagnosis.
机译：一名35岁的妇女被转介到我们的肥厚型心肌病（HCM）并伴有左心室（LV）收缩功能不全（末期演变）的临床管理中心。她最近因心pit而被诊断出其他症状。她的7岁女儿接受了熟悉的筛查，并被诊断出患有经典HCM。她完全没有症状，没有心外膜或全身表现。在随后的几年中，他们都经历了类似的临床过程，呼吸困难加重，LV收缩功能逐渐恶化。他们都接受了心脏移植手术，母亲分别为47岁，女儿为23岁。许多诊断假设，包括肌节型HCM，Anderson-Fabry病，糖原贮积病和线粒体心肌病。诊断检查包括连续的心电图和超声心动图评估，外植心脏的病理评估以及8个肌节和3个代谢基因的遗传分析。即使共享的HCM表型（两个可能是常染色体显性遗传且缺乏心外或多系统表现的一级女性家庭成员的LV收缩功能障碍）可以支持肌节型HCM的诱惑性诊断，也无法做出明确的诊断，由于缺乏遗传分析来确认此类诊断。

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