PDF(Pubmed)
Abstract：
UNASSIGNED: Pathogenic/Likely pathogenic variants in DSP-encoded desmoplakin are strongly associated with arrhythmogenic cardiomyopathy (ACM). However, their contribution towards sinus node dysfunction has not been well-delineated.
UNASSIGNED: A 74-year-old man with a pathogenic variant of DSP-encoded desmoplakin (c.478C >T; p.Arg160X) but no evidence of ACM presented with one episode of syncope in the setting of a gastrointestinal illness. Workup including echocardiography, cardiac magnetic resonance imaging, and Holter monitor did not show evidence of ACM or significant arrhythmias. One month later, he experienced several closely-spaced episodes of syncope associated with long sinus pauses and sinus arrest documented on telemetry. He underwent urgent dual chamber pacemaker implantation, during which a ventricular programmed stimulation study was performed and was negative for sustained ventricular arrhythmias. His syncopal episodes resolved and he had no recurrent events on three-month follow-up.
UNASSIGNED: As highlighted here, DSP-encoded desmoplakin pathogenic/Likely pathogenic variants may contribute to isolated sinus node dysfunction. This clinical link should be further explored in larger studies involving patients with DSP variants.
UNASSIGNED: A 74-year-old man with a pathogenic variant of DSP-encoded desmoplakin (c.478C >T; p.Arg160X) but no evidence of ACM presented with one episode of syncope in the setting of a gastrointestinal illness. Workup including echocardiography, cardiac magnetic resonance imaging, and Holter monitor did not show evidence of ACM or significant arrhythmias. One month later, he experienced several closely-spaced episodes of syncope associated with long sinus pauses and sinus arrest documented on telemetry. He underwent urgent dual chamber pacemaker implantation, during which a ventricular programmed stimulation study was performed and was negative for sustained ventricular arrhythmias. His syncopal episodes resolved and he had no recurrent events on three-month follow-up.
UNASSIGNED: As highlighted here, DSP-encoded desmoplakin pathogenic/Likely pathogenic variants may contribute to isolated sinus node dysfunction. This clinical link should be further explored in larger studies involving patients with DSP variants.
摘要：
■DSP编码的Desmoplakin的致病/可能致病变异与致心律失常性心肌病（ACM）密切相关。然而,他们对窦房结功能障碍的贡献尚未得到很好的描述。
■一名74岁的男子，患有DSP编码的desmoplakin的致病性变体（c.478C>T;p.Arg160X），但没有证据表明ACM在胃肠道疾病中出现一次晕厥。包括超声心动图检查，心脏磁共振成像，和Holter监测器未显示ACM或显著心律失常的证据。一个月后,他经历了几次紧密间隔的晕厥发作，这些晕厥发作与遥测记录的长时间窦性停顿和窦性停搏有关。他接受了紧急双腔起搏器植入术，在此期间进行了心室程序刺激研究,对持续性室性心律失常呈阴性.他的晕厥发作得以解决，并且在三个月的随访中没有复发事件。
■如此突出显示，DSP编码的桥粒斑蛋白致病/可能致病变体可能导致孤立的窦房结功能障碍。应该在涉及DSP变异患者的更大研究中进一步探索这种临床联系。
■一名74岁的男子，患有DSP编码的desmoplakin的致病性变体（c.478C>T;p.Arg160X），但没有证据表明ACM在胃肠道疾病中出现一次晕厥。包括超声心动图检查，心脏磁共振成像，和Holter监测器未显示ACM或显著心律失常的证据。一个月后,他经历了几次紧密间隔的晕厥发作，这些晕厥发作与遥测记录的长时间窦性停顿和窦性停搏有关。他接受了紧急双腔起搏器植入术，在此期间进行了心室程序刺激研究,对持续性室性心律失常呈阴性.他的晕厥发作得以解决，并且在三个月的随访中没有复发事件。
■如此突出显示，DSP编码的桥粒斑蛋白致病/可能致病变体可能导致孤立的窦房结功能障碍。应该在涉及DSP变异患者的更大研究中进一步探索这种临床联系。
