PDF(Pubmed)
Abstract：
OBJECTIVE: Kleefstra syndrome (KS), often diagnosed in early childhood, is a rare genetic disorder due to haploinsufficiency of EHMT1 and is characterized by neuromuscular and intellectual developmental abnormalities. Although congenital heart disease (CHD) is common, the prevalence of arrhythmias and CHD subtypes in KS is unknown.
RESULTS: Inspired by a novel case series of KS patients with atrial tachyarrhythmias in the USA, we evaluate the two largest known KS registries for arrhythmias and CHD: Radboudumc (50 patients) based on health record review at Radboud University Medical Center in the Netherlands and GenIDA (163 patients) based on worldwide surveys of patient families. Three KS patients (aged 17-25 years) presented with atrial tachyarrhythmias without manifest CHD. In the international KS registries, the median [interquartile range (IQR)] age was considerably younger: GenIDA/Radboudumc at 10/13.5 (12/13) years, respectively. Both registries had a 40% prevalence of cardiovascular abnormalities, the majority being CHD, including septal defects, vascular malformations, and valvular disease. Interestingly, 4 (8%) patients in the Radboudumc registry reported arrhythmias without CHD, including one atrial fibrillation (AF), two with supraventricular tachycardias, and one with non-sustained ventricular tachycardia. The GenIDA registry reported one patient with AF and another with chronic ectopic atrial tachycardia (AT). In total, atrial tachyarrhythmias were noted in six young KS patients (6/213 or 3%) with at least four (three AF and one AT) without structural heart disease.
CONCLUSIONS: In addition to a high prevalence of CHD, evolving data reveal early-onset atrial tachyarrhythmias in young KS patients, including AF, even in the absence of structural heart disease.
RESULTS: Inspired by a novel case series of KS patients with atrial tachyarrhythmias in the USA, we evaluate the two largest known KS registries for arrhythmias and CHD: Radboudumc (50 patients) based on health record review at Radboud University Medical Center in the Netherlands and GenIDA (163 patients) based on worldwide surveys of patient families. Three KS patients (aged 17-25 years) presented with atrial tachyarrhythmias without manifest CHD. In the international KS registries, the median [interquartile range (IQR)] age was considerably younger: GenIDA/Radboudumc at 10/13.5 (12/13) years, respectively. Both registries had a 40% prevalence of cardiovascular abnormalities, the majority being CHD, including septal defects, vascular malformations, and valvular disease. Interestingly, 4 (8%) patients in the Radboudumc registry reported arrhythmias without CHD, including one atrial fibrillation (AF), two with supraventricular tachycardias, and one with non-sustained ventricular tachycardia. The GenIDA registry reported one patient with AF and another with chronic ectopic atrial tachycardia (AT). In total, atrial tachyarrhythmias were noted in six young KS patients (6/213 or 3%) with at least four (three AF and one AT) without structural heart disease.
CONCLUSIONS: In addition to a high prevalence of CHD, evolving data reveal early-onset atrial tachyarrhythmias in young KS patients, including AF, even in the absence of structural heart disease.
摘要：
背景：Kleefstra综合征（KS），通常在儿童早期被诊断出来，是一种罕见的遗传性疾病，由于EHMT1的单倍体功能不全，其特征是神经肌肉和智力发育异常。虽然先天性心脏病（CHD）很常见，KS中心律失常和CHD亚型的患病率未知.
方法：受美国一系列新型KS房性心律失常患者的启发，我们根据荷兰Radboud大学医学中心的健康记录，评估了已知的两个最大的心律失常和冠心病KS登记处：Radboudumc（50名患者），和GenIDA（163名患者）基于对患者家庭的全球调查。
结果：3例KS患者（年龄17-25岁）表现为房性快速性心律失常，但没有明显的CHD。在国际KS登记册中，中位(IQR)年龄相当年轻;GenIDA/Radboudumc分别为10/13.5(12/13)岁.两个登记处都有40%的心血管异常患病率，大多数是冠心病，包括间隔缺损,血管畸形,和瓣膜疾病。有趣的是,Radboudumc注册中的4例（8％）患者报告了无冠心病的心律失常，包括一个AF,两个室上性心动过速（SVT），还有一个非持续性室性心动过速.GenIDA注册报告了一名房颤患者和另一名慢性异位房性心动过速患者。总的来说,在6例年轻KS患者(6/213或3%)中发现房性快速性心律失常,其中至少4例(3例AF和1例AT)无结构性心脏病.
结论：除了冠心病的高患病率外，不断发展的数据揭示了年轻KS患者的早发性房性快速性心律失常，包括AF,即使没有结构性心脏病。
方法：受美国一系列新型KS房性心律失常患者的启发，我们根据荷兰Radboud大学医学中心的健康记录，评估了已知的两个最大的心律失常和冠心病KS登记处：Radboudumc（50名患者），和GenIDA（163名患者）基于对患者家庭的全球调查。
结果：3例KS患者（年龄17-25岁）表现为房性快速性心律失常，但没有明显的CHD。在国际KS登记册中，中位(IQR)年龄相当年轻;GenIDA/Radboudumc分别为10/13.5(12/13)岁.两个登记处都有40%的心血管异常患病率，大多数是冠心病，包括间隔缺损,血管畸形,和瓣膜疾病。有趣的是,Radboudumc注册中的4例（8％）患者报告了无冠心病的心律失常，包括一个AF,两个室上性心动过速（SVT），还有一个非持续性室性心动过速.GenIDA注册报告了一名房颤患者和另一名慢性异位房性心动过速患者。总的来说,在6例年轻KS患者(6/213或3%)中发现房性快速性心律失常,其中至少4例(3例AF和1例AT)无结构性心脏病.
结论：除了冠心病的高患病率外，不断发展的数据揭示了年轻KS患者的早发性房性快速性心律失常，包括AF,即使没有结构性心脏病。
