一名患有先天性双侧冠状动脉瘘和多条侧支动脉的新生儿的表型和基因型病例报告。
A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries.
作者信息
Su Shixin, Xia Shuliang, He Ye, Li Jianbin, Ma Li, Chen Xinxin, Li Jia
机构信息
Clinical Physiology Laboratory, Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, China.
Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, China.
出版信息
Front Cardiovasc Med. 2022 Jul 6;9:939551. doi: 10.3389/fcvm.2022.939551. eCollection 2022.
We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent ductus arteriosus, and atrial septal defect. She presented symptoms of acute congestive heart failure. Cardiac catheterization and surgical interventions were performed to repair the defects. The patient recovered uneventfully and grew up well at 3 years of follow-up. Whole-genome sequencing (WES) in the patient, compared to her parents, showed 17 variants within 11 genes. Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
我们报告了一例独特的病例，一名18天大的女孩分别有三条冠状动脉瘘，分别通向右心房和右心室：三条侧支动脉起源于降主动脉，一条起源于右锁骨下动脉，通过一个囊引流至右心房顶部，动脉导管未闭，房间隔缺损。她出现了急性充血性心力衰竭的症状。进行了心导管检查和手术干预以修复缺损。患者恢复顺利，随访3年生长良好。对该患者及其父母进行全基因组测序（WES）显示，11个基因中有17个变异。其中，仅 基因中的复合杂合突变c.T470G（p.L157R）和c.A1622G（p.D541G）据报道与先天性心脏病有关，且最有可能是我们患者的致病原因。
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