Prevalence,treatment, and outcome of heart disease in live-born children: A prospective analysis of 91,823 live-born children

Summary All 91,823 children born in 1980 in Bohemia (population 6.314 million; area 52,478 square kilometers) were examined at least four times during infancy and at the age of three and four years. All children who died were autopsied and those with heart disease were selected. A total of 779 children (8.223/1000 live births) were suspected by provincial pediatric cardiologists of having a heart disease. All of these were examined at the age of four years at our Center of Pediatric Cardiology. At this age heart disease was proved in 613 alive or decreased children (6.676/1000 live births), congenital cardiac malformations in 589 (6.415/1000 live births), and cardiomyopathies in 24. The most frequent congenital heart defects (CHD) were ventricular septal defect (VSD) (31.41%), atrial septal defect (ASD) (11.37%), aortic stenosis (AS) (7.64%), pulmonary stenosis (PS) (7.13%), coarctation of the aorta (CoA) (5.77%), and transposition of the great arteries (TGA) (5.43%), followed by persistent ductus arteriosus (PDA) (4.75%), atrioventricular septal defect (AVSD) and hypoplastic left heart syndrome (HLHS) (4.07% each), tetralogy of Fallot (TF) (3.56%), and pulmonary atresia (PA) (2.38%). A prevalence of less than 0.1/1000 live births was found for the remaining cardiovascular defects.One hundred fifty-nine (25.9%) patients were admitted to our highly specialized center, 116 (19.7%) catheterized and 85 (13.9%) treated surgically, during the first four years of life. A total of 440 (71.8%) patients survived the fourth year of life. The percentage of deaths was 25.6% among those with congenital heart diseases and 71% with cardiomyopathies. The overall mortality rate was 27% in surgically and 26% in medically treated patients.     

Hypoplastic left heart syndrome: natural history in a geographically defined population

Advances in surgical treatment of hypoplastic left heart syndrome with the Norwood procedure and cardiac transplantation have made essential the understanding of the natural history of hypoplastic left heart syndrome. In a geographically defined population, we ascertained the prevalence of hypoplastic left heart syndrome in children born in Oregon from 1971 through 1986. Clinical and anatomic data were extracted from the charts of the 98 affected children and the survival rate was calculated. Hypoplastic left heart syndrome occurred in 0.162 per 1000 live births in Oregon during this period. No syndrome complex was prevalent and 84% were free of other congenital malformations. However, there was an increased occurrence of congenital heart defects in first-degree relatives of probands with hypoplastic left heart syndrome. Of the affected children 15 +/- 4% died on the first day of life, 70 +/- 5% died within the first week, and 91 +/- 3% died within 30 days. No secular change in survival occurred during the study. Palliation with the Norwood procedure was performed in 20 children. Although survival was significantly improved with this surgery (P = .01), the effect was observed principally through 30 days of life and only one of these children remains alive. Hypoplastic left heart syndrome is a lethal congenital heart defect in children and poses management and ethical dilemmas.     

Congenital Heart Disease Among 815,569 Children Born Between 1980 and 1990 and Their 15-Year Survival: A Prospective Bohemia Survival Study

The objective of this study was to ascertain the prevalence and survival rate of children born with a heart defect. A total of 816,569 children live-born between 1980 and 1990 in Bohemia (52,478 km², population 6.314 million, western Czech Republic) were followed up and those with suspected heart disease referred to a center. Echocardiography was done in all of them. All dead children were autopsied. Congenital heart disease was found in 5030 of 816,569 children (6.16 per 1000 live births). The most frequent conditions were ventricular septal defect (41.59%), atrial septal defect (8.67%), aortic (7.77%) and pulmonary (5.81%) stenoses, transposition of the great arteries (5.39%), coarctation of the aorta (5.29%) and persistent ductus arteriosus (5.07%). The first week was survived by 92.46%, the first month by 89.14%, 6 months by 82.42%, and the first year of life by 80.02%, and 77.11% (95% CI 75.91–78.31%) survived to age 15 years. The best prognosis was found in pulmonary stenosis (15-year survival 95.55%), atrial septal defect (92.04%), persistent ductus arteriosus (90.59%), ventricular septal defect (89.37%) and aortic stenosis (88.39%). The worst results were attained in hypoplastic left heart, truncus arteriosus and pulmonary atresia with intact ventricular septum. In conclusion, the prevalence of congenital heart disease was 6.16 per 1000 live births; 77.11% of patients survived to age 15 years.     

Spectrum of congenital heart defects in Croatia

The aim of our study was to investigate the incidence of congenital defects in children born in Croatia during a period of 5 years, its association with extracardiac malformations, its treatment, and outcome. Medical information about the patients was obtained from 14 paediatric cardiology centres that cover the whole country. Diagnosis was made by clinical findings, electrocardiography, chest X-ray, echocardiography, catheterisation, or autopsy. Between October 1, 2002 and October 1, 2007, there were 205,051 live births in Croatia, 1,480 of which were patients diagnosed with congenital heart disease, accounting for 0.72% of the live-born children. The distribution was made up of 34.6% children with ventricular septal defect, 15.9% with atrial septal defect, 9.8% with patency of arterial duct, 4.9% with pulmonary valvar stenosis, 3.3% with tetralogy of Fallot, 3.3% with transposed great arteries, 3.3% with aortic stenosis, 3.2% with aortic coarctation, 4.3% with atrioventricular septal defect and common atrioventricular orifice, 2.3% with hypoplastic left heart syndrome, and 8.3% other with severe defects. The average age in the time of diagnoses is 70.41 days (SD, 188.13), with low average time of diagnoses of severe heart defects, 9.6 days (SD, 32.52). Among patients, 14.5% had chromosomal defects, syndromes, and/or other congenital major anomalies. During the study, 57 patients died because of cardiac anomalies or other related problems, 24 who died were operated. The rates of specific cardiac defects and association with extracardiac malformations are generally comparable with those reported in similar studies. In spite of all problems, mortality rate of 3.85% is low but could be improved.     

Risk of pulmonary tuberculosis in children with congenital heart disease

Children with low-flow congenital heart lesions are reported to have an increased incidence of pulmonary tuberculosis. The aim of this study was to investigate if children with congenital heart disease have an increased incidence of pulmonary tuberculosis and to determine if patients with certain heart conditions are more susceptible to pulmonary tuberculosis than others. This retrospective study over a 6-year period showed that pulmonary tuberculosis was 2.5-fold more common in children with congenital heart disease than in normal children from the same community. Children with congenital pulmonary stenosis had a prevalence equal to those with acyanotic (ventricular and atrial septal defects) and cyanotic (transposition of the great arteries) high-flow heart lesions, whereas there were no cases of tuberculosis in children with low-flow cyanotic heart lesions such as tetralogy of Fallot. Cardiac surgery had to be postponed as a result of pulmonary tuberculosis in 7.2% of all patients in whom it was required. Over the 6-year period of the study, cardiac surgery had to be delayed in 60% of cases with pulmonary tuberculosis and congenital heart lesions so antituberculosis therapy could be completed. Physicians treating children with congenital heart lesions should maintain a high index of suspicion for the development of pulmonary tuberculosis, especially in those with acyanotic and cyanotic high-flow lesions and pulmonary stenosis.     

Occurrence of supernumerary nipples in newborns

A prospective study on supernumerary nipples (SNNs) was performed on 1,691 consecutively born neonates. We used a new technique for easier routine detection of SNNs. The incidence of this anomaly was one per 40 or 25 per 1,000 live births. Association of other congenital abnormalities with SNNs was not found.     

Relative incidence and mortality of congenital heart defects diagnosed by angiohemodynamic methods: A 17-year study

Summary Over a 17-year period (January 1971 to January 1988), 2322 children, aged 0–14 years, were diagnosed as having congenital heart disease (CHD) by cardiac catheterization and angiography. Excluding those with highly complex or undiagnosed defects, there were 2156 children with CHD, 72.4% of whom were treated surgically with a total surgical mortality rate of 24.1%. After a mean follow-up of 9 years the overall mortality of the cohort was 29.9%, 29.1% occurring in the first month of life, 39.6% between 1 month 1 year, and 31.2% between 1 and 14 years. The incidence, mortality, and age at death of each cardiac defect are presented and compared with the results of other studies. The overall mortality for congenital heart defects in eastern Spain remains elevated, whereas there has been a significant decrease in neonatal mortality and a trend towards a lower mortality in the last years of the study.     

Congenital Heart Disease in Radial Clubbed Hand Syndrome

A study has been made of children born with radial clubbed hands, with reference to the incidence of coexisting congenital heart malformations. In this series of 61 patients with radial clubbed hands 8 had proven heart disease, with a wide variety of congenital cardiac defects.Thalidomide ingestion was known to have occurred in 9 cases, but may well have been causative in a larger number. But in those cases of radial clubbed hand associated with congenital heart disease, thalidomide appeared not to be causative.     

Natural history of trisomy 13.

The poor prognosis of patients with trisomy 13 has long been accepted and has been ascribed to brain and heart malformations. It has been suggested, however, that the long term survival is better than was previously thought and that cardiac surgery may be justified. This population based study reviews the incidence, antenatal diagnosis, spectrum of survival from congenital heart disease, and mode of death for patients with trisomy 13 in the Northern Health Region from 1985 to 1992. There was an observed prevalence at birth of 0.049/1000 live births and an expected prevalence, allowing for antenatal diagnosis, of 0.077. None of the cardiac lesions found would cause early death. The median survival in this series was four days; the longest survival was 3.5 months. The principal mode of death was apnoea in 14 of 16 children, irrespective of the presence of a cranial abnormality. In the light of these findings, cardiac surgery cannot be justified in patients with trisomy 13.     

Natural history of trisomy 13

The poor prognosis of patients with trisomy 13 has long been accepted and has been ascribed to brain and heart malformations. It has been suggested, however, that the long term survival is better than was previously thought and that cardiac surgery may be justified. This population based study reviews the incidence, antenatal diagnosis, spectrum of survival from congenital heart disease, and mode of death for patients with trisomy 13 in the Northern Health Region from 1985 to 1992. There was an observed prevalence at birth of 0.049/1000 live births and an expected prevalence, allowing for antenatal diagnosis, of 0.077. None of the cardiac lesions found would cause early death. The median survival in this series was four days; the longest survival was 3.5 months. The principal mode of death was apnoea in 14 of 16 children, irrespective of the presence of a cranial abnormality. In the light of these findings, cardiac surgery cannot be justified in patients with trisomy 13.     

Neonatal screening for congenital toxoplasmosis in the Poznań region of Poland by analysis of Toxoplasma gondii-specific IgM antibodies eluted from filter paper blood spots

OBJECTIVES: The aims of the study were to determine the prevalence of congenital toxoplasmosis at birth in the Poznań region of Poland, the value of the serologic examination of filter paper blood specimens collected from newborns for the diagnosis of congenital Toxoplasma infection and the duration of anti-Toxoplasma-specific IgM antibodies in infants' sera. MATERIALS AND METHODS: All neonates born in the maternity wards of the University Hospital of Gynaecology and Obstetrics in Poznań and in 10 selected obstetrics wards in the district hospitals were included. Blood samples were collected on filter paper cards, between the first and sixth day of life, screened for anti-Toxoplasma-specific IgM antibodies by an immunocapture enzyme-linked immunosorbent assay and if positive further analyzed for specific IgG and IgA antibodies. RESULTS: Between June, 1996, and October, 1998, filter paper samples from 27,516 liveborn infants were tested, which constituted approximately 75% of all births and 83% of liveborn neonates from the Poznań region. Anti-T. gondii-specific IgM antibodies were found in 13 newborns, equivalent to a prevalence of Toxoplasma-specific IgM in newborns of 1 per 2,117 liveborn children (0.47 per 1,000) or 1 per 870 children (1.15 per 1,000) born to seronegative women at risk of primary T. gondii infection during pregnancy. We identified two congenitally infected infants who were IgM-negative at birth, had a classic triad of clinical symptoms during the first year of life and had high levels of specific IgG. The birth prevalence of congenital toxoplasmosis in the Poznań region was at least 1 per 1,834 live births (0.55 per 1,000) or 1 per 754 live neonates born to seronegative women (1.33 per 1,000). The sensitivity of the IgM assay on eluate from filter paper was not more than 86.7%, and the mean duration of IgM detectable by enzyme-linked immunosorbent assay in serum samples was the first 4.8 weeks of life. CONCLUSION: In Poland the screening for congenital toxoplasmosis detecting one case per each 2,000 live births could be considered for inclusion in existing national neonatal screening programs for phenylketonuria and congenital hypothyroidism.     

Month of birth and subsequent development of type I diabetes (IDDM)

The aim of this study was to find out whether there is a seasonal pattern in the month of birth of children with IDDM in Israel and whether this pattern, if present, differs from that of total live births. One thousand and ninety-five out of 1,188 children and adolescents (0-17 years) who developed IDDM in Israel between 1980-1993 and whose month of birth was known were included in the study. Separate analysis was made for Jews (n = 987) who have a high incidence (10-18/105) and Arabs (n = 108) with a low incidence (2.9/105) of IDDM. The pattern of total live birth distribution in Israel over a 20-year period served as control. A significantly different seasonal pattern was found in the two IDDM populations. Whereas the Jews had the lowest number of births in winter (January-March) and the highest in spring (April-June), the Arabs presented an inverse pattern in the first months of the year. The distribution of births of the children who developed IDDM was different from that observed in total live births in the Jewish population. The findings in the Jewish population in Israel (a high incidence group) support the hypothesis that IDDM is triggered in some children by viral infections transmitted by the mother during pregnancy or in the early postnatal period. In the Arab population (a low incidence group) a protective (immune and/or genetic) mechanism may exist.     

Prevalence of congenital heart disease assessed by echocardiography in 2067 consecutive newborns

Aim: There are discrepancies in the reported prevalence of congenital heart disease (CHD). This study prospectively evaluated the prevalence of CHD in consecutive newborns using echocardiographic screening. Methods: A cohort screening study was conducted in an unselected series of all live‐birth newborns. Two‐dimensional and colour Doppler echocardiography was performed at 0–4 days of life in 2067 consecutive neonates who were born at the Hamamatsu University Hospital, Japan, between May 2005 and April 2010. Results: There were 104 cases of CHD in the 2067 live births. Ventricular septal defect and patent ductus arteriosus were the most frequent cardiac abnormalities. The prevalence of newborns with CHD who had signs or symptoms of CHD and/or required invasive intervention was 21.3 per 1000 live births. However, 60 patients (29.0 per 1000 live births) with CHD were asymptomatic and did not need invasive intervention. The overall prevalence of CHD in this series was 50.3 per 1000 live births. Conclusion: This prospective study using echocardiography for all newborns shows a higher prevalence of CHD than almost all of the previous studies.     

Anomalous left coronary artery from pulmonary artery (ALCAPA) in infants: a 5-year review in a defined birth cohort

Anomalous left coronary artery from pulmonary artery (ALCAPA) is a rare congenital cardiac malformation. It presents predominantly in infancy with features of myocardial ischaemia or cardiac failure and may be mistaken for common paediatric conditions such as colic, reflux or bronchiolitis. With early surgical correction the prognosis is good, but awareness of this condition is essential for prompt diagnosis and referral to a tertiary cardiac centre. In this report we review the five cases that presented during our 5-year study period and discuss the incidence and clinical presentation of ALCAPA among infants. Our observed incidence of 1 in 4243 live births – 0.023 % – is higher than previously reported. ALCAPA may be more common than previously recognised, and there should be a high index of awareness among paediatricians, paediatric trainees and general practitioners to enable early surgical intervention and improved prognosis for these children.     

Long-term outcome of the child with congenital heart disease

The incidence of congenital heart disease is 6–8 per 1000 live births and has remained unchanged for many years. Congenital heart defects occur with similar frequency throughout all ethnic groups and regions of the world. It is estimated that 1600 patients requiring long-term care will enter adulthood every year in the UK – many of whom have complex disease. The majority have survived as a consequence of innovative cardiac surgery. Their management offers an insight into the surgical, medical, social and psychosocial therapies that have been introduced in recent years.     

Delayed recognition of haemodynamically relevant congenital heart disease

Delayed recognition of congenital heart defects may have a serious impact on the long-term outcome of the children affected. It was the aim of the present study, to evaluate the proportion of children with delayed cardiac diagnosis out of a large cohort of consecutive paediatric patients requiring treatment for congenital heart disease. A prospective study was performed over a 3-year period. Of all 323 paediatric patients requiring surgical (n=291) or catheter interventional (n=32) treatment for congenital heart disease, patients with delayed diagnosis of their cardiac defects were observed and especially examined for the presence of clinical cardiac findings other than systolic murmurs, not recognized as such prior to referral. Of all the patients, 32 (10%) had delayed diagnosis of heart defects. Surprisingly, the proportion of late diagnoses was not different in the group of patients with cyanotic heart disease where 7/72 patients were referrred with delay, compared to 25 delayed referrals among 251 children with acyanotic heart defects. Of the 32 patients with delayed diagnosis, 7 had complications due to delayed referral, but there was no mortality associated with late diagnosis. Conclusion A substantial proportion of all paediatric patients requiring intervention for heart disease were diagnosed with relevant delay. In all study patients with late diagnosis, clinical cardiac findings other than systolic murmurs were present that should have alerted the physician on the possible presence of underlying heart disease. Received: 30 June 2000 / Accepted: 15 December 2000     

Congenital malformations in Shimla

Congenital malformations were studied over a period of five years in 10, 100 consecutive births including still births at Indira Gandhi Medical College, Shimla. Out of these, 180 babies had one or the other congenital malformations and the overall incidence was 1.78%. Amongst the 311 still born babies 47 had congenital malformations indicating that the incidence of congenital malformations was much higher in still born babies (15.1%) as compared to the live born babies (1.3%). The malformations involving the central nervous system were the commonest (40%) followed by musculoskeletal system (23.8%) while genitourinary system malformations were the least common and accounted for 3.8% of the cases. Incidence of congenital malformations was the highest in mothers over 35 years of age and gravida four and more. The incidence was 2.8% in both the groups; the incidence of congenital malformation was more in babies weighing < 2500 gms and was 2.6%.     

The incidence of childhood celiac disease in Sweden

Within a defined population in southeast Sweden, celiac disease was diagnosed in 167 children born between 1970 and 1982. The diagnosis was based on the criteria of the European Society for Paediatric Gastroenterology and Nutrition. Another six children had an initial flat small intestinal mucosa but do not yet fulfill the criteria for the diagnosis of celiac disease. The incidence of celiac disease was 1.27/1,000 live births for the years 1970-1976 and 1.43/1,000 for 1977-1982. In contrast to our findings, a decline in the disorder during the late 1970s was reported from other countries. We discuss the observation that the incidences of celiac disease in children are moving discrepantly in different populations.     

Congenital chloride diarrhoea in Kuwaiti children

Congenital chloride diarrhoea was diagnosed in 16 Kuwaiti children over a 7 year period (1980–1986) with an estimated incidence of 7.6 per 100,000 live births. The mean age at diagnosis was 3.2 months (range 1 week to 5 months). There were 9 boys and 7 girls with a mean age of 3 years 10 months (range 10 months to 7 years). All children had a shortened gestational period, abdominal distension and chronic diarrhoea. The serum electrolytes in all patients prior to treatment showed hyponatraemia, hypokalaemia, hypochloraemia and metabolic alkalosis. The diagnosis was confirmed by a stool chloride content that exceeded the sum of faecal sodium and potassium. Fifteen patients survived and showed catch-up growth with adequate replacement therapy and 1 died with renal failure.Abbreviations CCD congenital chloride diarrhoea - FCL Faecal choride     

Increasing incidence of ventricular septal defects caused by improved detection rate

Meberg A, Otterstad JE, Frøland G, Sørland S, Nitter-Hauge S. Increasing incidence of ventricular septal defects caused by improved detection rate. Acta Pzdiatr 1994;83:653–7. Stockholm. ISSN 0803–5253
In a population-based study in childrcn born alive during the 10-year period from 1982 to 1991 ( n = 22 810), ventricular septal defects (VSDs) were diagnosed in 127 cases, an incidence of 5.6 per 1000. The incidence was significantly higher in the cohort of children born during the 6-year period from 1986 to 1991 than among those born in the preceding 4-year period, 1982–1985 (6.5 and 4.0 per 1000 respectively; p < 0.05). The increase was caused entirely by an increased detection rate of small defects in the muscular part of the interventricular septum after introducing echocardiography as a standard method for investigating suspect congenital heart defects in the neonatal period. This also explained entirely an increase in the total incidence of congenital hcart defects to 10.6 per 1000 in the last period from 8.4 per 1000 in the first, although this increase was not significant ( p > 0.05). Morc children born in 1986–1991 had spontaneous closure of their VSDs (75.5%) than those born in 1982–1985 (51.5%) ( p<0.05 ). In 69.3% of patients the VSDs closed during the first year of life. For the cohort born in 1986–1991, 84.6% of the defects located in the muscular part of the septum closed spontaneously. Small defects in the muscular part of the interventricular septum with spontaneous closure in early life may represent the tail of a normal developmental process, and not defects in the sense of malformations.