PDF(Pubmed)
Abstract：
UNASSIGNED: Hypertrophic cardiomyopathy (HCM) is a serious hereditary cardiomyopathy. It is characterized morphologically by an increased left ventricular wall thickness and mass and functionally by enhanced global chamber function and myocellular contractility, diastolic dysfunction, and myocardial fibrosis development. Typically, patients with HCM experience atrial fibrillation (AF), syncope, and ventricular fibrillation (VF), causing severe symptoms and cardiac arrest. In contrast, sinoatrial node (SAN) arrest in the setting of HCM is uncommon. In particular, during VF, it has not been described so far.
UNASSIGNED: In this study, we report an 18-year-old woman patient with sudden cardiac arrest due to VF and successful cardiopulmonary resuscitation as the first clinical manifestation of non-obstructive HCM. Subsequently, a subcutaneous implantable cardioverter-defibrillator (ICD) was implanted for secondary VF prophylaxis. However, additional episodes of VF occurred. During these, device interrogation revealed a combined occurrence of VF, bradycardia, and SAN arrest, requiring a device exchange into a dual-chamber ICD. A heterozygous, pathogenic variant of the MYH7 gene (c.2155C>T; p.Arg719Trp) was identified as causative for HCM.
UNASSIGNED: First published in 1994, the particular MYH7 variant (p.Arg719Trp) was described in HCM patients with a high incidence of premature cardiac death and a reduced life expectancy. Electrophysiological studies on HCM patients are mainly performed to treat AF and ventricular tachycardia. Further extraordinary arrhythmic phenotypes were reported only in a few HCM patients. Taken together, the present case with documented co-existing VF and SAN arrest is rare and also emphasizes addressing the presence of SAN arrest (in particular, during VF episodes) in HCM patients when a distinct ICD device is considered for implantation.
UNASSIGNED: In this study, we report an 18-year-old woman patient with sudden cardiac arrest due to VF and successful cardiopulmonary resuscitation as the first clinical manifestation of non-obstructive HCM. Subsequently, a subcutaneous implantable cardioverter-defibrillator (ICD) was implanted for secondary VF prophylaxis. However, additional episodes of VF occurred. During these, device interrogation revealed a combined occurrence of VF, bradycardia, and SAN arrest, requiring a device exchange into a dual-chamber ICD. A heterozygous, pathogenic variant of the MYH7 gene (c.2155C>T; p.Arg719Trp) was identified as causative for HCM.
UNASSIGNED: First published in 1994, the particular MYH7 variant (p.Arg719Trp) was described in HCM patients with a high incidence of premature cardiac death and a reduced life expectancy. Electrophysiological studies on HCM patients are mainly performed to treat AF and ventricular tachycardia. Further extraordinary arrhythmic phenotypes were reported only in a few HCM patients. Taken together, the present case with documented co-existing VF and SAN arrest is rare and also emphasizes addressing the presence of SAN arrest (in particular, during VF episodes) in HCM patients when a distinct ICD device is considered for implantation.
摘要：
■肥厚型心肌病（HCM）是一种严重的遗传性心肌病。它的形态特征是左心室壁厚度和质量增加，功能上是整体腔室功能和肌细胞收缩力增强，舒张功能障碍,和心肌纤维化的发展。通常,患有HCM的患者经历心房颤动（AF），晕厥,和心室纤颤（VF），导致严重的症状和心脏骤停。相比之下,窦房结（SAN）停搏在HCM的设置是罕见的。特别是,在VF期间，到目前为止还没有描述。
■在这项研究中，我们报道了1例18岁女性患者,因VF导致心脏骤停并成功进行心肺复苏为非阻塞性HCM的首发临床表现.随后，植入了皮下植入式心律转复除颤器(ICD),用于二次预防VF.然而,发生了额外的VF发作。在此期间,设备询问显示同时发生了VF，心动过缓,和SAN逮捕，需要将设备交换到双腔ICD中。杂合的，MYH7基因的致病变异(c.2155C>T;p.Arg719Trp)被鉴定为HCM的致病原因。
■于1994年首次发布，特定的MYH7变体（p。在HCM患者中描述了Arg719Trp），其早逝性心脏病死亡的发生率很高，预期寿命缩短。对HCM患者的电生理研究主要用于治疗AF和室性心动过速。仅在少数HCM患者中报告了进一步的异常心律失常表型。一起来看,目前有记录的共存VF和SAN逮捕的案例很少见，并且还强调解决SAN逮捕的存在(特别是，在VF发作期间），当考虑植入不同的ICD装置时，在HCM患者中。
■在这项研究中，我们报道了1例18岁女性患者,因VF导致心脏骤停并成功进行心肺复苏为非阻塞性HCM的首发临床表现.随后，植入了皮下植入式心律转复除颤器(ICD),用于二次预防VF.然而,发生了额外的VF发作。在此期间,设备询问显示同时发生了VF，心动过缓,和SAN逮捕，需要将设备交换到双腔ICD中。杂合的，MYH7基因的致病变异(c.2155C>T;p.Arg719Trp)被鉴定为HCM的致病原因。
■于1994年首次发布，特定的MYH7变体（p。在HCM患者中描述了Arg719Trp），其早逝性心脏病死亡的发生率很高，预期寿命缩短。对HCM患者的电生理研究主要用于治疗AF和室性心动过速。仅在少数HCM患者中报告了进一步的异常心律失常表型。一起来看,目前有记录的共存VF和SAN逮捕的案例很少见，并且还强调解决SAN逮捕的存在(特别是，在VF发作期间），当考虑植入不同的ICD装置时，在HCM患者中。
