Atrial and ventricular septal defects - epidemiology and spontaneous closure.

OBJECTIVE: To present data on the epidemiology and spontaneous closure for septal defects (secundum atrial septal defect (ASD) and/or ventricular septal defect (VSD)). METHODS: Data from the EUROCAT Registry of Congenital Malformations for Funen County, Denmark were analyzed. All infants born from 1986 to 1998, diagnosed with a secundum ASD and/or a VSD as the only cardiac malformation, were included. RESULTS: There were 78 infants with an ASD, 195 with a VSD, and 19 had both an ASD and a VSD. The overall prevalence of septal defects was 4.1 per 1000 livebirths. Among the VSDs 45% were perimembranous and 55% were muscular defects. Associated non-cardiac malformations, syndromes, or karyotype anomalies were present in 54 cases (19% of total) but with a significantly lower proportion among cases with muscular VSDs (7%, p < 0.05). Eighty-one percent of the cases had an isolated cardiac malformation. Five of 61 cases (8%) with isolated ASD were closed surgically before five years of age and 43 (70%) closed spontaneously within the first five years of life. Of the 65 cases with isolated perimembranous VSDs, 13 were closed surgically (20%) and 13 closed spontaneously (20%). Of the 99 cases with isolated muscular VSDs no defects were closed by surgery and 64 (65%) closed spontaneously. The rate of spontaneous closure for perimembranous and muscular VSDs were significantly different (p < 0.0001). CONCLUSIONS: Secundum ASD has a high rate of spontaneous closure. Perimembranous and muscular VSDs seem to be two different diseases with different epidemiology and natural history.     

Surgical repair of ventricular septal defect without ventriculotomy in the first 12 months of life.

Sixty-eight infants with clinical evidence of a large ventricular septal defect (VSD), refractory to conventional medical treatment, underwent surgical closure within the first 12 months of life from August 1987 to June 1991. There were 43 males and 25 females. The ages of the patients ranged from two to 12 months, with a mean age of 6.6 months. The mean body weight of the patients was 5.4 kg (range, 2.3-10 kg). Surgery was performed because of intractable heart failure in 27 infants (39.7%), failure to thrive in 40 (58.8%), repeated pneumonia in 43 (63.2%) and prolonged endotracheal intubation in nine (13.2%). There were 21 patients with a supracristal VSD (30.9%) and 47 patients with perimembranous VSD (69.1%). Nine patients (13.2%) had preoperative cardiac catheterization. Transatrial repair of perimembranous VSDs and transpulmonary repair of supracristal VSDs was used exclusively without ventriculotomy. Surgically induced heart blocks did not occur in any of the patients. Only two patients (2.9%) died during the early postoperative period. Diagnosis in most cases was confirmed by the present advanced integrated color Doppler echocardiographic technology which is widely used by pediatric cardiologists. There was no need to perform cardiac catheterization in most patients with VSDs. The morbidity and mortality were very low. We strongly suggest that for infants with a large VSD, primary repair should be the procedure of choice.     

经导管室间隔缺损封堵术后传导阻滞的处理及随访

目的随访经导管室间隔缺损(VSD)封堵术后并发的传导阻滞，探讨其发生机制及预后。 方法2002 06—2005 07山东省立医院小儿心脏科经导管介入治疗89例VSD患儿，对临床资料、心电图、心脏超声、心血管造影资料及随访结果进行分析。 结果89例患儿应用Amplatzer膜部VSD封堵器67例，国产对称型VSD封堵器20例，Amplatzer导管封堵器1例，pfm弹簧圈1例。术后出现间歇性完全性房室传导阻滞2例次，其中1例应用临时起搏器治疗，分别于术后第10天、第20天恢复窦性心律；完全性左束支阻滞3例次，完全性右束支阻滞3例次，左前半分支阻滞2例次，不完全性右束支阻滞5例次，加速性交界性心律合并完全性左束支阻滞1例次。 结论传导阻滞是VSD介入治疗术后的常见并发症，经治疗预后良好，及时发现、及时处理是诊疗的关键，对心内传导系统远期的影响仍需进一步评价。     

封堵器介入治疗儿童继发孔房间隔缺损术后房室传导阻滞分析

探讨应用Amplatzer封堵器 （ASO）介入治疗儿童继发孔房间隔缺损（ASD）术后房室传导阻滞（AVB）的发生率、危险因素及防治措施。方法　1998年3月至2005年12月在广东心血管病研究所心儿科450例继发孔ASD患儿接受ASO封堵术。对术前及术后随访的心电图资料进行回顾性分析,统计AVB的发生率及类型,并分析与AVB发生有关的危险因素及防治措施。结果　共有14例发生各种类型的AVB,发生率为3.1%,分别为Ⅰ度AVB 6例,Ⅱ度AVB 4例,Ⅲ度AVB 4例。所有AVB均发生于术后1～2 d内。14例中12例为术后新出现的AVB,2例术前为Ⅰ度AVB术后发展为Ⅱ度和Ⅲ度AVB（各1例）。统计学分析显示,使用过大ASO及小年龄与术后AVB的发生密切相关。AVB发生后常规应用激素等治疗,4例Ⅲ度AVB实施外科手术取出ASO。AVB绝大多数于短期随访内恢复或好转,未见复发。结论　AVB是应用ASO介入治疗儿童继发孔ASD术后的严重并发症。对年龄较小患儿避免置入过大ASO是降低术后AVB的关键。AVB发生后及早给予内科或外科干预,多可于短期内恢复,术后长期随访十分重要。     

小儿经皮室间隔缺损封堵术后非阵发性 室性心动过速临床意义分析

目的　总结小儿经皮室间隔缺损（VSD）封堵术后非阵发性室性心动过速（AIVR）的发生情况,探讨其临床意义及可能的发生机制。方法　2002年10月至2011年5月,1179例VSD患儿在广东省心血管病研究所心儿科行经皮VSD封堵术（室缺封堵组）,术后检出AIVR 17例。在我院门诊进行动态心电图检查的1392例非介入治疗患儿（非介入组）以及在我院行房间隔缺损封堵术的患儿988例（房缺封堵组）作为对照。比较室缺封堵组与对照组间AIVR的检出情况。对室缺封堵组9例患儿进行治疗,并对17例患儿进行随访。结果　室缺封堵组术后动态心电图AIVR检出率高于非介入组,差异有统计学意义（P < 0.05）;次日常规心电图AIVR检出率高于房缺封堵组（P < 0.05）。室缺封堵组所有AIVR患儿封堵术后1个月动态心电图均无AIVR,随访中无不良事件发生,随访心电图无AIVR。结论　室缺封堵组封堵术后AIVR检出率高于对照组,其发生与VSD封堵有关。该病多无自觉症状,预后良好,可能无须治疗。     

The atrioventricular conduction axis of hearts with isolated ventricular septal defects

We studied the surgical anatomy of 14 hearts with isolated ventricular septal defects and the precise relationship of the atrioventricular conduction axis to their rims. Ten of these hearts were investigated by serial sectioning of their atrioventricular conduction systems. All defects were divided into perimembranous or muscular types as previously suggested by Soto et al. The distinguishing feature of the perimembranous defect was that the central fibrous body formed part of its rim, this fact indicated that the conduction tissue was always to the right of the surgeon's hand when the defect was approached through the right atrium. The precise relationship of the ventricular conduction tissues varied depending upon whether the perimembranous defect extended into the inlet, trabecular or outlet components of the muscular septum. The nonbranching bundle was closest to the septal rim in the inlet and trabecular defects, frequently being buried in a remnant of the interventricular membranous septum. However, in these defects the nonbranching and branching bundles were also found in other specimens remote from the septal crest, yet were carried on the left ventricular aspect of the septum. In perimembranous inlet defects, the penetrating bundle detoured deep into the central fibrous body. In perimembranous outlet defects, the conduction tissues were remote from the septal crest. In contrast to these findings, the conduction tissues were away from the edges of the defects in trabecular and outlet muscular defects. In conclusion, in the perimembranous inlet defect, the placement of the sutures on the annulus of tricuspid valve should be avoided in view of its abnormal long penetrating bundle.     

Recurrent respiratory symptoms in the first year of life following preterm delivery

Recurrent respiratory symptoms in the first year of life following preterm delivery were documented in two studies. In the first study a questionnaire was sent to all parents of preterm very low birth weight (VLBW) infants who had been admitted during a six-month period to the Neonatal Intensive Care Unit (NICU) at King's College Hospital (KCH) and who lived within the local district. Questionnaires were also sent to parents of a control group of infants who were recruited by random selection. All the controls lived locally and were delivered at KCH in the same six-month period as the study group, but were born at 37-41 weeks of gestation and had had no neonatal problems. The questionnaire documented frequency of cough and wheeze, medication and hospital admissions. Recurrent respiratory symptoms (wheeze or wheeze and cough) occurred in 65% of the preterm VLBW infants but only 33% of the controls p less than 0.001. Less than 10% of infants in either group had received bronchodilator therapy. Admission to hospital in both groups was more common amongst children who had recurrent wheeze (p less than 0.01). In the second study all preterm VLBW infants admitted to the NICU in a six-month period were followed prospectively over the first year of life. The nature and frequency of respiratory symptoms and frequency and length of re-admission was documented and related to the duration of neonatal ventilation. Twenty-three of the 44 preterm VLBW infants (53%) followed prospectively had recurrent wheeze and/or cough.(ABSTRACT TRUNCATED AT 250 WORDS)     

The 'in-plane' view of the inter-ventricular septum. A new approach to the characterization of ventricular septal defects in the fetus

OBJECTIVES: Objectives of this study are (1) to describe how to obtain the in-plane view of the inter-ventricular septum, (2) to assess its feasibility in a population of fetuses referred for fetal echocardiography, (3) to demonstrate its effectiveness in the characterization of VSD in the fetus. METHODS: The in-plane view of the inter-ventricular septum is conducted in a plane almost perpendicular to that of the long axis of the left ventricle, tilting the transducer towards the right ventricle, paying attention not to 'enter' the right ventricular chamber. Its feasibility has been assessed in 41 fetuses referred for fetal echocardiography, by recording the visualization/failure rates by fetal lie and acoustic window. The in-plane view of the inter-ventricular septum was then employed in healthy fetuses and diseased fetuses with VSDs. RESULTS: The success rates in obtaining the in-plane view of the inter-ventricular septum was dependent upon fetal lie; visualization rates were 100, 36 and 0% in case of posterior, lateral and anterior spine, respectively. When used in the anatomic characterization of VSDs, this view provided significant additional information. CONCLUSIONS: The in-plane view of the inter-ventricular septum represents a new echocardiographic view that can be used to enhance the assessment of the inter-ventricular septum of the fetal heart. Its use should be considered whenever the presence of a VSD is suspected during fetal echocardiography, and in these cases it often provides additional information.     

Growth parameters of discordant preterm twins during the first year of life

Abstract

Objective: To evaluate and compare growth parameters (weight, length and head circumference) of discordant preterm twins during the first year of life.

Methods: Retrospective data were collected on 78 pairs of >10% discordant preterm twins. Data regarding short-term neonatal outcome were recorded. Growth parameters were recorded at birth and again at 1 year of age, as collected by phone interview.

Results: At 1 year of age, the gap was significantly reduced between the group of smaller twins and the group of larger twins on all the parameters studied. Discordance in weight decreased from a mean of 22% at birth (calculated from the weight of the larger twin) to 8.9%, in length from 6.5% to 2.5% and in head circumference from 5.5% to 1.3% at 1 year of age. While length and head circumference (HC) z-scores improved in both the large and the small siblings, weight z-score decreased significantly among the large twins and decreased mildly among the small twins.

Conclusions: The gaps in growth parameters between the smaller twins of preterm discordant twins and their larger siblings are significantly reduced during the first year of life. The impact of the differential growth patterns between the two siblings should be further evaluated.     

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes

Purpose

The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up.

Methods

We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth.

Results

Clinically significant CNVs were detected in 12 fetuses (8.3%). The most common pathogenic CNV was a 22q11.2 deletion with a detection rate of 2.8% (4/144). Well-known microdeletion or microduplication syndromes, including Smith–Magenis, Miller–Dieker, 9q subtelomeric deletion, 1p36 microdeletion, 1q21.1 microduplication, and terminal 4q deletion syndrome, were identified in six cases. Three regions of chromosomal imbalance were also identified: microduplication at 12q24.32q24.33, microdeletion at 16p13.13p13.12 and microdeletion at Xp21.1. The genes TBX1, SKI, GJA5, EHMT1, NOTCH1 were identified as established genes and LZTR1, PRDM26, YWHAE, FAT1, AKAP10, ERCC4, and ULK1 were identified as potential candidate genes of fetal VSDs. There was no significant difference in pathogenic CNVs between isolated VSDs and VSDs with additional structural abnormalities. Ninety-five (74.8%) pregnant women with fetuses with benign CNVs chose to continue the pregnancy and had a favorable prognosis, while nine (75%) pregnant women with fetuses with pathogenic CNVs chose to terminate the pregnancy.

Conclusions

High-resolution SNP arrays are valuable tools for identifying submicroscopic chromosomal abnormalities in the prenatal diagnosis of VSDs. An excellent outcome can be expected for VSD fetuses that are negative for chromosomal anomalies and other severe anatomic abnormalities.

     

Exclusive versus predominant breastfeeding in Italian maternity wards and feeding practices through the first year of life.

Determinants of exclusive versus predominant breastfeeding in the maternity ward and the relationship with later feeding practices were investigated in 1656 mothers who breastfed exclusively or predominantly in the maternity ward. Mothers were interviewed through 12 months postdelivery about feeding practices. Information about the World Heath Organization's (WHO's) 10 steps was collected. At hospital stay, breastfeeding was predominant in 43% of infants. Cesarean section (odds ratio [OR] = 1.75), mother's overweight (OR = 1.74), and non-compliance with the WHO's steps 6 (OR = 1.58), 7 (OR = 1.43), and 8 (OR = 1.76) were determinants of predominant, as opposed to exclusive, breastfeeding. Mothers exclusively, rather than predominantly, breastfeeding in the hospital showed a longer duration of full breastfeeding (mean = 3.6 vs 3.1 months), later introduction of formula (3.8 vs 3.3 months), and lower rate of introduction of formula within 1 month (23% vs 30%). Hospitals need to be compliant with the WHO's steps, and Baby-Friendly Hospital Initiatives should be promoted.     

Human milk reduces outpatient upper respiratory symptoms in premature infants during their first year of life.

OBJECTIVE: To determine if ingestion of human milk after discharge reduces symptoms of infections in premature infants. STUDY DESIGN: Follow-up of 39 infants with birth weights <2000 g, 24 of whom received any amount of human milk and 15 of whom received only formula after discharge, was carried out. Mothers were given a calendar on which they recorded any signs of infections and feeding and day-care information. Data were collected at 1 month after discharge and at 3, 7, and 12 months corrected age. RESULTS: Results show no differences between groups in birth weight, gestation, gender, maternal age, parental tobacco use, number of siblings, and day-care attendance. Socioeconomic status score was higher in the human milk group. Infants who received human milk had fewer days of upper respiratory symptoms at 1 month after discharge (p<0.025) and at 7 months corrected age (p<0.025). CONCLUSION: Ingestion of human milk post discharge is associated with a reduction of upper respiratory symptoms in premature infants during their first year of life.