Arrhythmia caused by ARV1 gene variation:A case report
Objective To investigate the clinical features of myocardial diseases caused by ARV1 gene mutation.Methods The clinical data of a child with arrhythmia admitted to the department of Neonatology,Afflliated to Shanghai Jiao Tong University School of Medicine Shanghai Children's Medical Center,Hainan Branch were analyzed retrospectively.The patient primarily presented with atrial septal defect,slow heart rate.Whole exome sequencing(WES)was performed on the child.Results The patient was a premature infant,a female,who was transferred to the Department of Neonatology.Her heart rate was 105 beats per minute,and her heart sounds were weak.The level of pro-b-type natriuretic peptide was 3996.0 pg/mL,patent ductus arteriosus patent foramen ovale.Clinical whole exome sequencing analysis suggested a homozygous pathogenic variant in the ARV1 gene:c.693(p.Lys232fs)(NM)point homozygous mutation,with the variant site inherited from the parents,respectively.Only one case of ARV1 gene mutation was reported in China,and 23 cases of ARV1 gene mutation were reported in foreign literature,including 25 cases of this case.All 23 patients had the DEE38 phenotype,6 had the DCM phenotype,and 10 patients died in early childhood or preschool.Conclusion ARV1 gene variants may play an important role in cardiac physi-ology,but more clinical and molecular analyses are clearly needed to explore this conclusion in more detail.Early genetic testing should be performed for unexplained prenatal or early-onset myocardial diseases in infants and young children in order to better guide treatment and judge prognosis as well as prenatal guidance for their families.
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