Predicting congenital cardiovascular defects on the basis of their immunogenetic characteristics

The study was undertaken to examine 80 children with congenital heart and vessel malformations, their parents (50 married couples), and 100 families with healthy children. The antigen typing of the HLA system was accomplished by using the Terasaki microlymphocytotoxic test. A statistically significant correlation was found between B35 antigens and septal malformations, vascular diseases, and congenital cardiomyopathies. The unfavorable obstetric history was shown to play a role in the occurrence of developmental malformations. The data of an analysis of HLA antigens in the parents of the children with congenital malformations suggest that a marked HLA antigen compatibility of married couples is one of the cause of pregnancy complications and developmental malformations in their offspring.     

Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes

BACKGROUND: Men with cystic fibrosis (CF) have bilateral absence of the vas deferens causing an obstructive azoospermia that is not amenable to surgical correction. Advances in the field of reproductive medicine allow for the procurement of viable sperm and facilitate fertilization and pregnancy in couples where the man has CF. OBJECTIVES: To describe patient anatomy and semen characteristics and to determine the pregnancy rates of couples in whom the male partner has CF and who have undergone microsurgical epididymal sperm aspiration coupled with in vitro technology, specifically intracytoplasmic sperm injection (ICSI). DESIGN: Retrospective analysis. SETTING: Clinical department of urology and two reproductive medicine units. PATIENTS: Thirteen married men with CF who were referred for infertility. INTERVENTIONS: History, physical examination, semen analysis, transrectal and renal ultrasonography, CF mutation analysis, and microsurgical sperm aspiration coupled with ICSI. RESULTS: All 13 men had low-volume azoospermia, absent vasa, and aplasia/hypoplasia of the seminal vesicles. CF mutation analysis was carried out in 11 of 13 men, and 9 of 11 were DeltaF508 homozygous. Eight men underwent microsurgical sperm aspiration, and their partners underwent one or more cycles of ICSI. Five couples (62.5%) achieved a pregnancy, with four couples delivering (three sets of twins and one singleton). CONCLUSIONS: CF in men is accompanied by bilateral vasal aplasia. The resultant obstructive azoospermia can be treated quite successfully with a combination of sperm aspiration and ICSI. It is important for physicians involved in the care of men with CF to convey the message that prospects for fatherhood are excellent with current technology.     

Embryo freezing after intracytoplasmic sperm injection

This study reports on the safety and efficiency of the cryopreservation of human embryos obtained after intracytoplasmic sperm injection. For this, we evaluated the morphological survival, the capacity of the surviving embryo to develop further in vitro and in vivo. After freezing-thawing embryos obtained after ICSI, 40% of the embryos do not survive the cryopreservation procedure. After selective transfer of further cleaving frozen-thawed embryos, pregnancy loss was 31% (subclinical pregnancy rate of 13% and miscarriage rate of 18%). As a result the livebirth rate per transferred embryos and per thawed embryo was 7 and 3% respectively. Obstetric outcome as well as further follow-up of the children born indicate that cryopreservation of ICSI embryos is a safe procedure, long term follow-up of the children born however is still warranted.     

Intracytoplasmic sperm injection with cryopreserved testicular spermatozoa

To assess if testicular sperm cryopreservation is a valid alternative to repetition of testicular sperm retrieval techniques, results of a cryopreservation technique in pills have been retrospectively analyzed. Enough motile spermatozoa for ICSI were obtained in 172 from 190 (90.5%) frozen-thawed testicular sperm samples. Overall, 249 couples underwent 390 ICSI cycles, 156 using fresh and 234 using cryopreserved testicular sperm. Mean two-pronuclear fertilization rates per cycle were not significantly different after ICSI with fresh (62.0%) or with cryopreserved (63.2%) spermatozoa. Mean embryo cleavage rate per cycle was higher in the fresh (90.6%) than in the cryopreserved (84.6%) group (P = 0.016). However, clinical pregnancy rates per cycle (28.2% with fresh vs 27.8% with cryopreserved), implantation rates (12.2% vs 13.1%) and ongoing pregnancy rates per cycle (22.4% vs 21.8%) were not significantly different. Cryopreservation of testicular spermatozoa is an effective technique that can be used both in obstructive and in non-obstructive azoospermia.     

Congenital heart malformations in Jutland, Denmark: a three year necropsy study in children aged 0-14 years. Epidemiology and classification according to sequential segmental analysis

The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular septal defect and there were 77 cases in which connections between chambers or between chambers and great arteries were anomalous (68 liveborn; 37 male and 31 female: nine stillborn; two male and seven female). No difference in sex distribution or seasonal variation was found between those with congenital heart disease and those without. Extracardiac malformations and chromosomal abnormalities were more often seen in children with congenital heart malformation than those without (30.3% vs 16.6%). The sequential segmental analysis is a logical and precise way of describing congenital heart malformations and it should be routinely used to classify cases of congenital heart malformation.     

Congenital heart malformations in Jutland, Denmark: a three year necropsy study in children aged 0-14 years. Epidemiology and classification according to sequential segmental analysis.

The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular septal defect and there were 77 cases in which connections between chambers or between chambers and great arteries were anomalous (68 liveborn; 37 male and 31 female: nine stillborn; two male and seven female). No difference in sex distribution or seasonal variation was found between those with congenital heart disease and those without. Extracardiac malformations and chromosomal abnormalities were more often seen in children with congenital heart malformation than those without (30.3% vs 16.6%). The sequential segmental analysis is a logical and precise way of describing congenital heart malformations and it should be routinely used to classify cases of congenital heart malformation.     

Recent advances in assisted reproductive technologies

Assisted reproductive technologies (ART) have received considerable attention, both clinically and empirically. Drs. Steptoe and Edwards removed one oocyte surgically from a woman with infertility related to tubal disease. They fertilized this oocyte in vitro and transferred the formed embryo to the woman’s uterus and achieved pregnancy and delivery. The technique of in vitro fertilization (IVF) and embryo transfer (ET) quickly became widely utilized for other causes of infertility as well as for tubal disease. In the last 5 years there has been a number of new developments that are reviewed in this article. The most important and now widely practiced technology has been direct intracytoplasmic injection (ICSI) of the husband’s sperm into the wife’s oocyte. This was developed for treatment of infertility related to low sperm count. Subsequently it was shown that sperm can be aspirated from epididymis or found in testicular biopsy in obstructive azoospermia. Another promising development is in vitro maturation (IVM) of immature oocytes. This has the potential of avoiding ovarian hyperstimulation, which can be uncomfortable and occasionally dangerous. Some oocytes are unable to fertilize and/or develop into normal embryos. It may be possible that the problem is with the machinery of cytoplasm of the oocyte. Therefore cytoplasmic transfer from a normal oocyte to an abnormal oocyte may overcome the problem. Infertile couples may be faced with many psychological problems that become even more complex with various treatments. Whereas donation of oocytes or embryos can be technically quite simple, there are many psychological issues involved. As can be gathered from aforementioned discussions, the treatments developed for infertility appear to be somewhat illogical and in the style of “shot gun therapy.” In the field of infertility, as in other areas of medicine, it is of paramount importance to know the details of disease mechanisms. This in turn will allow specific and logical treatments to be developed.     

Testicular dose and fertility in men following I(131) therapy for thyroid cancer

OBJECTIVE: Young adults with differentiated thyroid cancer are treated with high doses of radioiodine and have an excellent long-term prognosis. However, there is limited information on the effects of this treatment on the gonads and fertility in male patients. We have reviewed the outcome of treatment in our centre with respect to male fertility. We have also assessed directly the radiation dose received by the testes. DESIGN: Retrospective analysis of males attending the thyroid clinic at the Royal Marsden Hospital for treatment of differentiated thyroid cancer. A prospective study was also performed to assess radiation dose to testes in 14 consecutive patients attending for thyroid cancer treatment. PATIENTS: Males under the age of 40 years at the time of treatment with a minimum of 3 years follow-up. MEASUREMENTS: Number of children fathered by patients and number of congenital malformations. For the prospective study: gonadal function assessed by serum FSH, LH and testosterone measurements; radiation dose to the testes (Gy) measured by thermoluminescent dosimetry. RESULTS: Fertility was assessed in 122 men with a median follow-up of 21 years (range 3-39) of whom 93 were under active follow-up. One hundred and six children were fathered by 59 patients; the remainder had no wish to have children. No major malformations were reported. Of these 59 patients, 12 had received a single 3 GBq ablation dose, 19 had been treated with up to 14 GBq radioiodine and 28 had received up to 44 GBq. In 14 patients followed prospectively, the median estimated radiation dose to each testis was 6.4 cGy following 3 GBq, 14.1 cGy following 5.5 GBq and 21.2 cGy following 9.2 GBq. There was a transient elevation in serum FSH after radioiodine which normalized within 9 months from the last administration. CONCLUSIONS: Radioiodine treatment for thyroid cancer may result in transient impairment of gonadal function. The radiation dose absorbed by the testis after a single ablative dose of radioiodine is well below that associated with permanent damage to germinal epithelium and the risk of infertility in these patients is minimal. Patients requiring multiple administrations for persistent or metastatic thyroid cancer may be at greater risk of gonadal damage although even in this group, we found no evidence of infertility.     

Prevalence of congenital cardiovascular malformations in children of human immunodeficiency virus-infected women: The prospective P2C2HIV multicenter study

Objectives. The purpose of the study was to assess the effects of maternal HIV-1 (human immunodeficiency virus) infection and vertically transmitted HIV-1 infection on the prevalence of congenital cardiovascular malformations in children.Background. In the United States, an estimated 7000 children are born to HIV-infected women annually. Previous limited reports have suggested an increase in the prevalence of congenital cardiovascular malformations in vertically transmitted HIV-infected children.Methods. In a prospective longitudinal multicenter study, diagnostic echocardiograms were performed at 4–6-month intervals on two cohorts of children exposed to maternal HIV-1 infection: 1) a Neonatal Cohort of 90 HIV-infected, 449 HIV-uninfected and 19 HIV-indeterminate children; and 2) an Older HIV-Infected Cohort of 201 children with vertically transmitted HIV-1 infection recruited after 28 days of age.Results. In the Neonatal Cohort, 36 lesions were seen in 36 patients, yielding an overall congenital cardiovascular malformation prevalence of 6.5% (36/558), with a 8.9% (8/90) prevalence in HIV-infected children and a 5.6% (25/449) prevalence in HIV-uninfected children. Two children (2/558, 0.4%) had cyanotic lesions. In the Older HIV-Infected Cohort, there was a congenital cardiovascular malformation prevalence of 7.5% (15/201). The distribution of lesions did not differ significantly between the groups.Conclusions. There was no statistically significant difference in congenital cardiovascular malformation prevalence in HIV-infected versus HIV-uninfected children born to HIV-infected women. With the use of early screening echocardiography, rates of congenital cardiovascular malformations in both the HIV-infected and HIV-uninfected children were five- to ten-fold higher than rates reported in population-based epidemiologic studies but not higher than in normal populations similarly screened. Potentially important subclinical congenital cardiovascular malformations were detected.     

Cryopreservation of epididymal sperm

The advent of ICSI and the perfecting of freezing protocols for sperm samples that in the pre-ICSI era would not have been frozen, allows now routine cryopreservation of epididymal sperm regardless of their quality and quantity. There are two methods to retrieve epididymal sperm: microsurgical epididymal sperm aspiration (MESA) and percutaneous epididymal sperm aspiration (PESA). The majority of the literature has focused on the technique of MESA to obtain sperm on the claim that the amount of sperm retrieved with PESA might not be sufficient to allow cryopreservation. However, there are no data on cryopreservation and ICSI with epididymal sperm collected with PESA technique. In this study, a total of 68 consecutive cycles of PESA, of which 46 were performed with fresh epididymal sperm and 22 with frozen/thawed specimens were retrospectively analyzed. In the fresh epididymal group (n = 46), 446 eggs were injected and 207 cleaving embryos were obtained (fertilization rate of 46%). In the cryopreserved epididymal sperm group (n = 22), 216 eggs were injected and 115 cleaving embryos were obtained (fertilization rate of 53%, P = NS). There were 18 pregnancies (39%) with 17 (37%) delivered/ongoing in the fresh group, while there were 11 (50%) with 9 (41%) delivered/ongoing in the frozen group (P = NS). Epididymal sperm for cryopreservation was available in 44 of the 46 PESA cycles. Additionally, in the fresh group, 19 couples had excess embryos for cryopreservation while in the frozen group, ten couples had excess embryos for cryopreservation. A total of 17 frozen embryo transfer with epididymal sperm from PESA were analyzed. Of these, 12 FET were from embryos from the fresh epididymal group and three pregnancies with livebirths (25%) were recorded. Five FET were performed with extra embryos from frozen epididymal sperm and two (40%) pregnancies with livebirths were obtained. In summary, these data show that epididymal sperm obtained by PESA can be successfully cryopreserved in order to avoid future retrievals procedures and fertilization and pregnancy rates are similar between fresh and cryopreserved epididymal sperm. It is also reported for the first time that the transfer of frozen embryos obtained with either fresh or frozen thawed epididymal sperm leads to the same pregnancy'and delivery rate.     

Internal diameters of the ventriculo-arterial junctions and great arteries of normal infants and children: a data base for evaluation of congenital cardiac malformations

In order to obtain reference data for a better evaluation of the operability of infants and children with congenital heart malformations, investigations were made on the growth of the aortic ventriculo-arterial junction along with the aortic arch as well as of the pulmonary root and the pulmonary tree. The internal diameters of the junctions and of various sites of both great arteries were measured in fresh post mortem specimens of 126 children having an age from 21 weeks of gestation up to 10 years after birth and who died from noncardiac diseases. Linear correlations were found between the internal diameters and body length. The post mortem data were in agreement with echocardiographic observations.     

High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism.

The objective of this study was to evaluate the prevalence of major congenital malformations in a cohort of children with permanent primary congenital hypothyroidism (PCH). This cross-sectional study was conducted in 76 consecutive, unselected children with PCH recruited from a district hospital outpatient clinic. Malformations were identified by clinical examination. The prevalence of major congenital malformations in these patients was compared with the prevalence of malformations in children born at Hospital de Clínicas de Porto Alegre (HCPA). The etiology of hypothyroidism was established by scintigraphy and ultrasonography. Hypothyroidism was caused by thyroid dysgenesis in 67 patients (one case of hemiagenesis, 24 of ectopia, and 42 of agenesis); the gland was normally located and shaped in nine patients. Ten patients (13.2%) had major congenital malformations (1,316/10,000 patients), mostly cardiac. Malformations were observed only in patients with dysgenesis: thyroid agenesis (n = 7) and sub-lingual ectopic thyroid (n = 3). The prevalence of malformations was significantly higher (RR = 2.6; CI 95%: 1.3-4.8; p = 0.005) in this group than in HCPA newborns (509/10,000 patients). In conclusion, a high rate of extrathyroid congenital malformations, mostly cardiac, was found for patients with permanent PCH, especially thyroid dysgenesis. The present data support the existence of an association between CH and increased prevalence of congenital malformations.     

Results of infertility investigations and follow-up among 312 infertile women and their partners in Kigali, Rwanda

The objectives of this study were to assess the outcome of infertility investigations and an 18-month follow-up of 312 infertile women and their partners in Rwanda. Between November 2007 and May 2009, an infertility research clinic was opened. Infertile couples received basic infertility investigations, the available treatment was provided and couples were followed up over an 18-month period. The infertility remained unexplained in 3%, was due to a female factor in 31%, due to a male factor in 16% or due to a combination of male and female causes in 50% of fully investigated couples (n = 224). A tubal factor was found in 69% of women, a male factor in 64% of men. Predictors for tubal infertility in women included a history of high-risk sexual behaviour, HIV infection and a history of sexually transmitted infection (STI) symptoms in the male partner. After 12-18 months of follow-up, 40 pregnancies (16%) had occurred in 244 women. Our study shows high rates of tubal and male factor infertility in Rwanda. Pregnancy rates were low after conventional therapy. In order to provide effective and affordable treatment for infertility in resource-poor countries the development of low-cost assisted reproductive technologies are needed.     

Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility

One hundred and thirty-six cycles with a poor prognosis for full-term pregnancy underwent preimplantation genetic diagnosis (PGD) of aneuploidy. The mean maternal age was 31.8 +/- 2.5 years. Only patients younger than 36 years were included in the study with the aim of evaluating whether sperm indices have an effect on the chromosomal constitution of preimplantation embryos. No differences were detected in the percentage of aneuploid embryos; however a higher incidence of monosomies and trisomies was found in MESA-TESE embryos compared to the group of normospermic patients. In addition, an increase in the proportion of gonosomal aneuploidy seemed to be associated with the severity of the male factor parameters. The rate of de-novo chromosomal abnormalities in embryos from patients with a normal karyotype suggested an increased frequency proportional to the severity of the male factor condition, the proportion of monosomic and trisomic embryos, and the percentage of gonosomal aneuploidy increased accordingly. In the case of couples with a male altered karyotype, comparable frequency of chromosomally abnormal embryos, and monosomy and trisomy were observed irrespective of semen indices, gonosomal aneuploidy was only observed in one case where the patient had a karyotype with gonosomal mosaicism. These data confirm that the severe male infertility condition determines an increase in the rate of de-novo abnormalities, as anticipate by the follow-up of the children born after ICSI.     

Serum insulin-like growth factor-I (IGF-I) and growth in children born after assisted reproduction

CONTEXT: Concern has been raised about the safety of assisted reproduction techniques for the offspring. OBJECTIVES: The objective of the study was to investigate postnatal growth and growth factors in children born after intra-cytoplasmatic sperm injection (ICSI) and in vitro fertilization (IVF). DESIGN: The study had two cohorts: a population-based longitudinal infant cohort 0-36 months [236 ICSI, 173 IVF, 1530 naturally conceived (NC)], and a cross-sectional child cohort at 5 yr (68 ICSI, 67 IVF, 70 NC). INTERVENTION: Anthropometrical measurements were made at birth, 3, 18, 36 (infant cohort), and 60 months (child cohort), and blood samples were collected at 3 or 60 months. MAIN OUTCOME MEASURES: Serum IGF-I, IGFBP-3, height, weight, head and abdominal circumference, body mass index, and fat folds were the main outcome measures. RESULTS: Anthropometrical measurements showed no significant differences between ICSI and IVF children and controls in either cohort. However, singleton ICSI girls [3.4 (0.6) kg, P = 0.008] had a slightly lower birth weight than IVF [3.5 (0.5) kg] and NC girls [3.5 (0.5) kg]. Birth weights of singleton boys [3.6 (0.5) kg], twin boys [2.6 (0.6) kg], and twin girls [2.4 (0.5) kg] did not differ between types of conception. In the infant cohort in 3-month-old singletons, serum IGF-I was lower in ICSI [78 (26) ng/ml] than NC boys [94 (27) ng/ml, P < 0.001] and IVF [74 (34) ng/ml], compared with NC girls [93 (43) ng/ml, P = 0.011]. ICSI children were also smaller than their target height (sd score) at 3 yr of age [mean -0.91 (1.2)], compared with NC children [-0.61 (0.9), P = 0.033]. In the child cohort, target height attainment (sd score) and growth factors did not differ among the three groups. CONCLUSIONS: The overall growth pattern of ICSI and IVF children in both cohorts was normal. Our findings of subtle differences in target height attainment and serum IGF-I levels between infants born after assisted reproduction techniques and controls may not be clinically significant. However, these observations indicate that further systematic follow-up of growth and puberty in these children is needed.     

The application of a simplified system of criterions for audit to improve paediatric cardiologic and paediatric cardiac surgical care: evidence from a regional approach in Hungary

AIMS: To evaluate the quality of cardiac and surgical care provided for children with congenital cardiac malformations in the eastern county of Hungary. METHODS: We used the method of clinical audit based in selection of criterions, developing five such criterions concerning timely diagnosis, access to treatment, and outcome. To examine compliance with these criterions, we analysed retrospectively the routine data relating to children living in Hajdu-Bihar County. The period of observation lasted from January, 1994, until December, 2001, and was divided into two epochs in order to evaluate any changes over time. RESULTS: In the first epoch, 28 infants, representing 0.1% of all newborns, died of congenital cardiac disease, with one of the malformations being recognised post mortem. In the second epoch, 21 infants died, representing 0.09% of newborns. In this group, each malformation was diagnosed before death. In each period, 6 infants died without having undergone cardiac surgery, and having no other non-cardiac disease. The overall postoperative mortality was 9.2% for the first period, and 4.6% for the second. The number of patients waiting for non-urgent repair had reduced significantly by the end of the second epoch. CONCLUSIONS: The results show that the timely diagnosis of congenital cardiac malformations is in line with accepted international standards. Conversely, the access to invasive treatment was limited over the period of observation, albeit that the waiting list was reduced significantly by the end of the second epoch. The postoperative mortality for those suffering congenital cardiac malformations is also comparable with international standards, except for mortality during infancy for treatment of complex anomalies. Our audit highlights the need for surgical repair of the more complex malformations during infancy.     

不同不育类型患者精液质量比较及对补救卵胞浆内单精子注射术临床结局的影响分析

目的 探讨不同不育类型患者精液质量情况及其对补救卵胞浆内单精子注射术(R-ICSI)临床结局的影响.方法 回顾性研究2014-01～2018-12于广西壮族自治区人民医院生殖医学与遗传中心行常规体外受精-胚胎移植(IVF-ET)失败而进行R-ICSI治疗的98对不孕不育夫妇的临床资料.根据不育类型将98对夫妇分为原发性...     

Congenital heart malformations associated with dilated cardiomyopathy

From June 1977 to February 1986 we studied 31 children with dilated cardiomyopathy. Seven patients (22%) aged 8 months to 3 years had associated congenital cardiac lesions--tetralogy of Fallot (3), coarctation of the aorta (2), ventricular septal defect (1) and Ebstein's malformation (1). The diagnosis was confirmed by hemodynamic and angiographic studies in 5 patients and by autopsy in 2. Although different congenital lesions were present, all 7 patients had congestive heart failure, flattening of T-waves or ST-segment depression on the electrocardiogram and significant decrease in the left ventricular shortening fraction as judged by echo. We conclude that the incidence of dilated cardiomyopathy associated with congenital heart malformations is high in our pediatric population. The clinical status of patients appears to be more dependent on the improvement of dilated cardiomyopathy and less dependent upon the underlying congenital heart malformations.     

Results of surgical treatment for infective endocarditis in children

OBJECTIVE: Infective endocarditis is uncommon condition, with a high degree of morbidity and mortality. It is less common in children, albeit tending to be associated with congenital cardiac malformations. We describe our experience of the need for surgical treatment in children with infective endocarditis. PATIENTS AND METHODS: We analyzed retrospectively the records of 9 children aged below 16 years seen between May 2003 and March 2005 with infective endocarditis, reviewing the demographic details, clinical presentation, microbiological and echocardiographic data, operative findings, and outcome. RESULTS: Apart from pre-existing renal insufficiency in 1 patient, congenital cardiac malformations were the predisposing factors. Blood cultures were positive in 3, but remained negative in the other 6 patients. The indications for surgical treatment included uncontrolled sepsis, congestive heart failure, recurrent endocarditis, patch or graft dehiscence, and pseudoaneursymal formation. Death due to uncontrolled sepsis resulting in multiorgan failure occurred in 1 patient, who had tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries. Another patient died late postoperatively due to cardiac failure after relapse of the endocarditis in the setting of negative blood cultures. CONCLUSION: Despite advances in antimicrobial therapy, diagnosis, and measures of treatment for infective endocarditis, complications continue to be responsible for substantial morbidity and mortality. Since blood cultures are frequently negative, clinical and echocardiographic findings should be the major determinants of strategies used for treatment. We believe that our small series of patients seen over the past two years in which surgical treatment was performed will be helpful in guiding the clinical perspectives for children with infective endocarditis.     

Influential factors in mortality rate from congenital heart disease. Study of 1,216 children in the Autonomous Community of Murcia (1978-1990)

INTRODUCTION: In the last few years, important progress has taken place in management of congenital heart disease. These changes have had an influence on diagnosis, preoperative management, surgery treatment and postoperative care, giving rise to better results in the treatment of children suffering from congenital heart disease. AIM: To assess the results of congenital heart diseases in a reference hospital by comparing two periods with reference to both diagnosis and therapeutical management. We also intend to investigate the influence that factors such as the existence of extracardiac congenital malformations and heart surgery have on mortality. PATIENTS AND METHODS: Our sample group was made up of 1,216 children suffering from congenital heart disease. Their ages ranged from 1 day to 7 years old. These children were born over a period of thirteen years and studied at the paediatric cardiology unit in a reference hospital in the Autonomous Community of Murcia, a region of Spain. We retrospectively analysed their development by individual heart diseases (and their associated factors), and the global results. Our research was divided into two periods: between 1978 and 1983, and between 1984 and 1990. Differences were found regarding diagnosis and treatment. RESULTS: a) Mortality rate from congenital heart disease decreased in the period between 1984 and 1990 in comparison to the period between 1978 and 1983, from 28 to 21,7% (p < 0.05); b) individually, the mortality rate decreased with statistical significance in two diseases: interventricular communication and patent ductus arteriosus, and c) there is a higher mortality rate of patients with no surgery treatment and/or extracardiac malformations. CONCLUSION: Progress in the management of congenital heart disease has led to a more favourable outcome in the last years.