Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene
Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene
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MYH7 基因中出现新型双碱基取代的年轻发病肥厚型心肌病患者成功妊娠和分娩
DOI：
10.1016/j.jccase.2022.09.010
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发表时间：
2023
影响因子：
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通讯作者：
Furukawa Yutaka
中科院分区：
文献类型：
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作者：
Miyawaki Norihisa;Toyota Toshiaki;Higasa Koichiro;Nakamura Tomoyuki;Furukawa Yutaka
在此，我们报告一位有心脏性猝死家族史的女性肥厚型心肌病（HCM）合并严重左心室流出道梗阻的病例。尽管有严重的HCM表型，患者在经皮经腔室间隔心肌消融术后的两个围产期期间成功地使用了低剂量比索洛尔。我们进行了全基因组测序分析，发现该患者MYH 7基因（c.2608_2609delinsTT，p.R870F）中存在一种新的双碱基替换（DBS）。她的孩子也在向父母进行仔细的遗传咨询后进行了基因检测，她的一个1岁左心室肥大的孩子被发现有相同的基因突变。DBS位于一个功能重要的区域，并且在HCM表型后代中遗传了相同的突变，这表明MYH 7基因中的该突变是导致严重HCM表型的原因。积极主动的基因检测将提供有益的信息，为适当的后续行动和启动治疗的儿童可能致病基因突变;然而，修订的遗传咨询，可考虑根据其growth.Learning objectiveHypertrophic心肌病（HCM）患者严重左心室流出道梗阻是在一个高风险的血流动力学恶化在怀孕期间。在围生期进行心肌消融治疗和精心的医疗管理可能使严重梗阻性HCM患者安全妊娠和分娩。MYH 7基因中一个新的双碱基替换（c.2608_2609delinsTT，p.R870F）被发现是一个可能的致病突变。
Herein, we report the case of a young-onset female hypertrophic cardiomyopathy (HCM) patient with severe left ventricular outflow tract obstruction who had a family history of premature sudden cardiac death. Despite the severe HCM phenotype, the patient was successfully managed by low-dose bisoprolol during two peripartum periods after a percutaneous transluminal septal myocardial ablation.We performed whole-genome sequencing analysis and found a novel doublet-base substitution (DBS) in theMYH7gene (c.2608_2609delinsTT, p.R870F) in this patient. Her children were also genetically tested after careful genetic counselling to their parents, and one of her children at 1-year-old with left ventricular hypertrophy was found to have the same gene mutation. The location of the DBS in a functionally important domain and the inheritance of the same mutation in the offspring with the HCM phenotype suggested that this mutation in theMYH7gene was responsible for the severe HCM phenotype. Proactive genetic testing would provide beneficial information for appropriate follow-up and initiation of therapy in children with possibly pathogenic gene mutations; however, revisions of genetic counselling may be considered according to their growth.Learning objectiveHypertrophic cardiomyopathy (HCM) patients with severe left ventricular outflow tract obstruction are at a high risk of hemodynamic deterioration during pregnancy. Preceding myocardial ablation therapy and a careful medical management during peripartum period may enable safe pregnancy and delivery in severe obstructive HCM patients. A novel doublet-base substitution in theMYH7gene (c.2608_2609delinsTT, p.R870F) was found as a likely pathogenic mutation of young-onset severe HCM.