Mid- and long-term results of different techniques for subaortic stenosis / 中国胸心血管外科临床杂志

@#Objective    To evaluate the mid- and long-term outcomes of different surgical techniques for subaortic stenosis. Methods    The clinical data of 75 patients with subaortic stenosis who underwent surgery in our hospital from January 2008 to January 2018 were retrospectively analyzed, including 48 males and 27 females, with a median age of 72 (48, 132) months and mean weight of 21.35±15.82 kg. There were 40 (53.3%) patients combined with aortic regurgitation; 38 (50.7%) patients were the first time and 37 patients were the second time to receive the operation. According to the surgical techniques, 75 patients were divided into two groups: a group A (40 patients with simple subaortic membrane resection) and a group B (35 patients with subaortic membrane and muscle resection or modified Konno procedure). Results    Two (2.67%) patients died in hospital. There was one late death in the group B. The average preoperative and postoperative pressure gradient of all patients was 69.96±42.02 mm Hg and 7.44±12.45 mm Hg, respectively. All patients were followed up for 51 (12, 120) months. Pressure gradient at follow-up in the group A and the group B was 8.83±14.52 mm Hg and 5.86±9.53 mm Hg, respectively with no statistical difference (P=0.294). Four patients in the group A and 2 patients in the group B needed reintervention. However, there was no statistical difference in the long-term reintervention rate between the two groups (P=0.480). Conclusion    For the different degree of lesions in the left ventricular outflow tract, our management strategy is feasible. Although there is no statistical difference between two the groups in the long-term reintervention rate after simple valvular membrane resection, prolonged follow-up is necessary to examine the long-term outcomes of different surgical techniques.

Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

Williams–Beuren syndrome (WBS) has a prevalence of 1/7500–20000 live births and results principally from a de novo deletion in 7q11.23 with a length of 1.5 Mb or 1.8 Mb. This study aimed to determine the frequency of 7q11.23 deletion, size of the segment lost, and involved genes in 47 patients with a clinical diagnosis of WBS and analysed by fluorescence in situ hybridization (FISH); among them, 31 had the expected deletion. Micro-array comparative genomic hybridization (aCGH) confirmed the loss in all 18 positive-patients tested: 14 patients had a 1.5 Mb deletion with the same breakpoints at 7q11.23 (hg19: 72726578–74139390) and comprising 24 coding genes from TRIM50 to GTF2I. Four patients showed an atypical deletion: two had a 1.6Mb loss encompassing 27 coding genes, from NSUN5 to GTF2IRD2; another had a 1.7 Mb deletion involving 27 coding genes, from POM121 to GTF2I; the remaining patient presented a deletion of 1.2 Mb that included 21 coding genes from POM121 to LIMK1. aCGH confirmed the lack of deletion in 5/16 negative-patients by FISH. All 47 patients had the characteristic facial phenotype of WBS and 45 of 47 had the typical behavioural and developmental abnormalities. Our observations further confirm that patients with a classical deletion present a typical WBS phenotype, whereas those with a high (criteria of the American Association of Pediatrics, APP) clinical scorebut lacking the expected deletion may harbour an ELN point mutation. Overall, the concomitant CNVs appeared to be incidental findings.

Homozygous Familial Hypercholesterolaemia with Valvular Aortic Stenosis and Significant Coronary Artery Disease: A Case Report.

Homozygous Familial Hypercholesterolaemia is a genetic disorder which usually presents with early cardiovascular disease ranging from premature ischaemic disease, including myocardial infarction to aortic root stenosis. A 21 year old Bangladeshi male presented with exertional chest pain and breathlessness. He was diagnosed as a case of Homozygous Familial Hypercholesterolaemia. His angina symptoms were due to underlying valvular aortic stenosis which is a rare presentation of Homozygous Familial Hypercholesterolaemia.

Progress of interventional therapy of congenital valvular aortic stenosis / 中华实用儿科临床杂志

Congenital vahular aortic stenosis (AS),which refers to a congenital malformation of the aortic valve,is the most common causes of left ventricular outflow tract obstruction in chiidren.In 1983,percutaneous balloon aortic valvuloplasty (PBAV) was firstly described as the treatment for congenital AS in children.Over the past 30 years advancement in technique and equipment had radically improved the safety and outcome of balloon valvuloplasty of aortic valve.Nowadays the technique is widely regarded as the therapy of first choice for children with congenital AS.However,it is essential to make decisions about treatment and define which approach has the best chance of success for any given patient before the initial intervention,especially for the neonate with critical AS.PBAV is usually effective for acutely relieving left ventricular outflow obstruction and has excellent short term results in most childen with congenital AS.The mid-and long-trem outcome after a successful balloon dilation of congenital AS in childhood is also good,but late restenosis and valve regurgitation eventually necessitate reintervention in the majority of children,which included aortic valve replacement.PBAV was found to have a high incidence of complications and remains one of the most challenging procedures in the inttcventional therapy of congenital heart disease.Operators should not only acquire the necessary manual skills,but also have the ability to make sound clinical judgment and deal with critical events.Owing to its palliative nature of balloon dilation for congenital AS,the follow-up care of patients after procedure is quite important.

Controlled transient respiratory arrest along with rapid right ventricular pacing for improving balloon stability during balloon valvuloplasty in pediatric patients with congenital aortic stenosis - A retrospective case series analysis.

Rapid right ventricular pacing is safe, effective, and established method to provide balloon stability during balloon aortic valvuloplasty (BAV). Controlled transient respiratory arrest at this point of time may further reduce left ventricular stroke volume, providing an additional benefit to maintain balloon stability. Two groups were studied. Among the 10 patients, five had rapid pacing alone (Group A), while the other five were provided with cessation of positive pressure breathing as well (Group B). The outcomes of BAV in the two groups of patients were studied. One patient in Group A had failed balloon dilatation even after the fourth attempt, while in Group B there were no failures. The peak systolic gradient reduction was higher in Group B (70.05% in comparison to 52.16% of group A). In Group A, five subjects developed aortic regurgitation (grade 2 in four and grade 3 in one, while no grade 3 aortic regurgitation developed in any patient in Group B). Controlled transient respiratory arrest along with rapid ventricular pacing may be effective in maintaining balloon stability and improve the outcome of BAV.

The Management of Three Infants with Critical Valvular Aortic Stenosis by Transcarotid Balloon Aortic Valvuloplasty

Critical valvular aortic stenosis(AS) is a life threatening congenital heart anomaly in neonates or infants. The main cause of death is rapidly progressing left ventricular failure. The treatment goal of critical AS is to save left ventricular function early. Before the 1980s, the preferred treatment was surgical valvotomy, however, that operative method had a high mortality rate and risk of re- procedure. These surgical problems encouraged balloon aortic valvuloplasty technique for initial life saving. There were some vascular approaches for balloon aortic valvuloplasty(e.g. femoral artery and vein, umbilical artery and vein, carotid artery). Each approach has some advantages and disadvantages. Balloon aortic valvuloplasty through the right carotid artery makes access to the aortic valve easy, has less vascular complication, and short procedure time and effect of saving femoral artery for reballooning. We had three cases of transcarotid balloon aortic valvuloplasty in infants with critical AS. In our long-term follow up, we had good results, except carotid artery thrombosis in one case. We report the first three Korean cases of balloon aortic valvuloplasty though carotid artery cutdown procedure for critical AS with a brief review of literatures. (J Korean Pediatr Soc 2000;43:820-827)