Clinical Analysis of Transcatheter Embolotherapy for Congenital Pulmonary Arteriovenous Fistulas in Children

Objective:To summarize the clinical features and therapeutic effects of transcatheter embolotherapy for congenital pulmonary arteriovenous fi stulas(PAVFs)in children,and to explore the method and therapeutic principle of transcatheter embolotherapy for congenital PAVFs in children.Method:We retrospectively reviewed nine patients with PAVF who underwent transcatheter embolotherapy in the Children’s Hospital of Chongqing Medical University from July 2004 to July 2019,including the demographic characteristics,clinical manifestations,effi ciency of closure,and follow-up.Results:Transcatheter embolotherapy was successful in all cases,and the symptom remission rate was 100%during the follow-up.No residual shunts or other complications occurred during the follow-up period.Compared with before embolotherapy,there were signifi cant changes in the percentage of saturated oxyhemoglobin and total hemoglobin level at the last follow-up(t=10.06,P=0.000;t=3.055,P=0.0076).No signifi cant difference was observed in pulmonary artery pressure before and after embolotherapy(t=0.13,P=0.90).Conclusions:Transcatheter embolotherapy offers the advantages of safety,with a decreased risk of trauma and a specifi c effect of treatment,and therefore is recommended as the fi rst-line treatment for congenital PAVFs in children.However,continued research is necessary to understand the full potential of transcatheter embolotherapy.

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

To the Editor： Pompe disease, a rare autosomal recessive disorder due to alpha-1,4-glucosidase （GAA） activity deficiency caused by its gene mutation, can cause an excessive lysosomal glycogen storage in muscular tissues. Pompe disease has two major clinical forms： infantile-onset and adult-onset forms. Without treatment, most infantile-onset patients die from respiratory and cardiac failure within the 1st year of life.[1,2] A small percentage of infantile-onset patients, known as an atypical infantile form,[1] present abnormalities in the 1st year and reveal a slower progression with less severe or an absence of cardiomyopathy. For this form, it is not easy to make a differential diagnosis with idiopathic hypertrophic cardiomyopathy. Here, we report a case of atypical infantile-onset Pompe disease from a Chinese family based on genetic and enzyme activity analyses.