背景:为了研究临床表现,预后,儿童右冠状动脉异常起源于主动脉(ARCA-L)的可能相关基因。
方法:本病例系列研究包括首都医科大学附属北京儿童医院心内科诊断为ARCA-L的儿科患者,2017年1月至2019年12月。
结果:9名儿科患者(年龄3个月至12岁,包括4个男孩)。2例以心功能不全为主要表现,而其余七人有感染后或运动后的症状,如胸痛,胸闷,长时间呼气,缺乏力量,和头晕。6例患者心电图显示不同程度的ST-T改变,而根据超声心动图,两名患者的左心室射血分数(LVEF)降低了20-32%。多层螺旋CT血管造影证实所有患者均存在ARCA-L。一名患者接受了去屋顶技术。其余8人接受保守治疗。经过2-64个月的随访,8名儿童预后良好并存活.一名儿童因心力衰竭加重而突然死亡。全外显子组测序显示一个孩子检测呈阴性,其中一个在RYR2和LDB3基因中有突变,其余四名患者在GDF1,LRP6,MEF2A,和KALRN基因,分别。
结论:儿童ARCA-L的临床表现可能有很大差异,并有猝死的风险。该疾病的发生可能与遗传缺陷有关。
To investigate the clinical manifestations, prognosis, and possibly related genes of anomalous right coronary artery originating from the aorta (ARCA-L) in children.
This case series study included pediatric patients diagnosed with ARCA-L at the Department of Cardiology in Beijing Children\'s Hospital affiliated to Capital Medical University, between January 2017 and December 2019.
Nine pediatric patients (aged 3 months to 12 years, 4 boys) were included. Two cases presented with cardiac insufficiency as their primary manifestation, while the remaining seven had post-infection or post-exercise symptoms such as chest pain, chest tightness, long exhalation, lack of strength, and dizziness. Six patients displayed varying degrees of ST-T changes on the electrocardiograph, while two patients had a reduced left ventricular ejection fraction (LVEF) of 20-32% according to echocardiography. Multislice computed tomographic angiography confirmed the presence of ARCA-L in all patients. One patient underwent the unroofing technique. The remaining eight received conservative treatment. After a follow-up of 2-64 months, eight children had a good prognosis and survived. One child experienced sudden death due to aggravated heart failure. Whole exome sequencing revealed that one child tested negative, one had mutations in the RYR2 and LDB3 genes, and the remaining four patients had a mutation in the GDF1, LRP6, MEF2A, and KALRN genes, respectively.
ARCA-L in children might have a wide variation in clinical manifestations and a risk of sudden death. The occurrence of the disease might be associated with genetic defects.