Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea.
Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea.
Medicina (Kaunas). 2021 Mar 18;57(3):281. doi: 10.3390/medicina57030281.
Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM), caused by the same mutation in different individuals. A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Transthoracic echocardiography (TTE) showed RCM with biatrial enlargement and pericardial effusion. Cardiac magnetic resonance (CMR) images revealed normal left ventricular chamber size, borderline diffuse left ventricular hypertrophy and very large atria. In contrast to the proband, CMR images showed asymmetric septal hypertrophy of the left ventricle, consistent with a diagnosis of HCM in the proband's two daughters. Of the five heterozygous variants identified as candidate causes of inherited cardiomyopathy by whole exome sequencing in the proband, Sanger sequencing confirmed the presence of a heterozygous frameshift mutation (NM_000256.3:c.3313_3314insGG; p.Ala1105Glyfs*85) in in the proband and his affected daughters, but not in his unaffected granddaughter. There is clinical and genetic overlap of HCM with restrictive physiology and RCM, especially when HCM is combined with severe myocardial fibrosis. Family screening with genetic testing and CMR imaging could be excellent tools for the evaluation of idiopathic RCM.
限制型心肌病（RCM）是最罕见的心脏疾病之一，预后极差，心脏移植是唯一的长期治疗选择。我们曾报道过一个韩国家族，不同个体携带相同的突变，表现出不同的心肌病，如特发性 RCM 和肥厚型心肌病（HCM）。一名 74 岁男性因劳累性呼吸困难、心悸和双下肢凹陷性水肿数月而入院。经胸超声心动图（TTE）显示为 RCM，伴有双心房增大和心包积液。心脏磁共振（CMR）图像显示左心室腔大小正常，左心室弥漫性轻度肥厚，且心房非常大。与先证者不同的是，CMR 图像显示左心室间隔不对称性肥厚，符合先证者的两个女儿的 HCM 诊断。在先证者中通过全外显子组测序确定的 5 个杂合变异体被认为是遗传性心肌病的候选原因，Sanger 测序证实先证者及其患病女儿存在杂合移码突变（NM_000256.3:c.3313_3314insGG;p.Ala1105Glyfs*85），但先证者的未患病孙女中不存在该突变。HCM 与限制型生理和 RCM 存在临床和遗传重叠，尤其是当 HCM 合并严重心肌纤维化时。遗传检测和 CMR 成像的家族筛查可能是评估特发性 RCM 的极好工具。
