Aims: To assess the variation in blood pressure (BP) between limbs in normal neonates. To assess whether comparison of arm and leg BP in neonates is reproducible enough to allow the difference to raise suspicion of coarctation of the aorta.

Methods: Infants recruited from the postnatal wards and the postnatal murmur clinic underwent echocardiography and BP measurement in each limb using a Dinamap Compact T 482210. The method of BP measurement was guided by a telephone survey of 40 UK neonatal units.

Results: Forty healthy neonates underwent echocardiography and all had a normal aortic arch. BP was measured in 39. In three, BP in the arms was 20 mm Hg higher than in the legs. This gave a specificity of comparison of the upper and lower limb BPs of 92 (36/39) or a false positive rate of 8% (3/39). The standard deviation in BPs was 15.7 mm Hg between arms, 14.5 mm Hg between legs, and 11 mm Hg when the nearest arm and leg were compared.

Conclusions: With current measurement techniques, normal neonates may have a wide variation in BP between limbs. A difference of 20 mm Hg in isolation is more likely to be due to random variability in measurement than to coarctation of the aorta. If coarctation of the aorta is suspected, it can only be excluded or confirmed by echocardiography.

Objective: To compare the prevalence at live birth and the spectrum of cardiovascular malformations in infants born to diabetic mothers with pre-existing diabetes with that in infants of non-diabetic mothers.

Design: Prospective study of all live births in the resident population of one health region, with recording of details of the outcome of all pregnancies of women with pre-existing diabetes and of all live born babies with cardiovascular malformations.

Results: In the six years 1995–2000 there were 192 618 live births in the study population. Cardiovascular malformations were confirmed in 22 of 609 (3.6%) babies with diabetic mothers and in 1417 of 192 009 (0.74%) babies with non-diabetic mothers. The odds ratio for a cardiovascular malformation with maternal diabetes was 5.0 (95% confidence interval 3.3 to 7.8). Combination of these results with previous reports and comparison with the spectrum of cardiovascular malformations in infants of non-diabetic mothers shows a greater than threefold excess of transposition of the great arteries, truncus arteriosus, and tricuspid atresia.

Conclusions: Pre-existing maternal diabetes is associated with a fivefold increase in risk of cardiovascular malformations. Transposition of the great arteries, truncus arteriosus, and tricuspid atresia are overrepresented to produce a substantial excess of these malformations.

Background: Echocardiography is an investigation that is being used increasingly on the neonatal unit. There is some controversy as to whether this service can be provided safely and effectively by neonatologists or whether it should only be performed by paediatric cardiologists.

Aims: To describe (a) the indications for an echocardiogram, (b) the yield and range of positive findings, (c) the resulting changes in clinical management, and (d) the reliability of echocardiography in the hands of neonatologists when it is performed on the neonatal unit.

Methods: Information about all echocardiograms performed on the neonatal unit was collected prospectively. Indications for performing echocardiography, echocardiographic findings, and any resulting changes in clinical management were determined. The concordance of findings in infants who underwent echocardiograms performed by both a neonatologist and a paediatric cardiologist was described.

Results: A total of 157 echocardiograms were performed in 82 infants. Echocardiography identified 44 infants with a structural cardiac abnormality and a further 17 infants with a trivial abnormality. In addition, 13 babies were found to have an important functional abnormality. Echocardiography prompted a specific change in clinical management in 64 (78%) babies. In 31 of the 38 infants who had paired scans performed, there was complete concordance between the two examinations. No infants had scans that were completely different. Some discrepancy was identified in seven infants, but this did not prevent appropriate immediate clinical management.

Conclusions: Echocardiography on the neonatal unit has a high yield for the diagnosis of structural and functional cardiac abnormalities, often results in a change in clinical management, and can be a reliable tool in the hands of neonatologists.

Background: Heart murmurs are common in children, and they are often referred to a specialist for examination. A clinically innocent murmur does not need further investigation. The referral area of the University Hospital is large and sparsely populated. A new service for remote auscultation (telemedicine) of heart murmurs in children was established where heart sounds and short texts were sent as an attachment to e-mails.

Aim: To assess the clinical quality of this method.

Methods: Heart sounds from 47 patients with no murmur (n = 7), with innocent murmurs (n = 20), or with pathological murmurs (n = 20) were recorded using a sensor based stethoscope and e-mailed to a remote computer. The sounds were repeated, giving 100 cases that were randomly distributed on a compact disc. Four cardiologists assessed and categorised the cases as having "no murmur", "innocent murmur", or "pathological murmur", recorded the assessment time per case, their degree of certainty, and whether they recommended referral.

Results: On average, 2.1 minutes were spent on each case. The mean sensitivity and specificity were 89.7% and 98.2% respectively, and the inter-observer and intra-observer variabilities were low (kappa 0.81 and 0.87), respectively. A total of 93.4% of cases with a pathological murmur and 12.6% of cases with an innocent murmur were recommended for referral.

Conclusion: Telemedical referral of patients with heart murmurs for remote assessment by a cardiologist is safe and saves time. Skilled auscultation is adequate to detect patients with innocent murmurs.

OBJECTIVE—To examine the prevalence of congenital heart disease in babies with oesophageal atresia and its influence on outcome.
DESIGN—Retrospective analysis.
SETTING—The resident population of one health region.
RESULTS—A total of 153 babies with oesophageal atresia were identified from 509 975 live births (0.30 per 1000); 26 (17%) had cardiac defects. Survival of babies with normal hearts was 97%, 97%, and 95% at one week, one month, and one year. Survival of babies with congenital heart disease was 85%, 85%, and 67% at one week, one month, and one year, but only one of ten deaths was the result of the congenital heart disease. The remaining deaths were due to other congenital malformations, respiratory disease, or chromosome abnormalities.
CONCLUSIONS—There is a high prevalence of congenital heart disease in babies with oesophageal atresia. Congenital heart disease is associated with a higher mortality in oesophageal atresia but it is not the cause of it.



OBJECTIVE—To predict the growth in demand for long term follow up of adults with congenital heart disease.
DESIGN—Observed diagnoses of congenital heart disease in infancy and childhood were adjusted for observed infant survival, predicted further survival to age 16 years, underascertainment in older childhood, and predicted need for long term follow up.
SETTING—The resident population of one health region in the UK.
PATIENTS—All confirmed cardiovascular malformations diagnosed in 1985 to 1999 in children born in 1985 to 1994.
RESULTS—1942 cases of congenital heart disease were diagnosed in infancy in a population of 377 310 live births (5.2/1000). 1588 (82%) survived to 1 year and 1514 were predicted to survive to age 16. 605 further diagnoses were made in childhood—678 when adjusted for underascertainment. Thus, 2192 children were predicted to reach age 16, of whom 784 would require long term follow up in adult life. The adult population would comprise 28% complex, 54% significant, and 18% minor congenital heart disease. These figures predict the need for adult follow up of congenital heart disease of over 200 extra cases per 100 000 live births each year or over 1600 extra cases a year every year in the UK.
CONCLUSIONS—The need for follow up of congenital heart disease in adult life is likely to grow linearly, with increasing complexity and increasing need for reinvestigation and reintervention with time. Appropriate provision should be made for adequate manpower, resources, and facilities for care of these patients.


Keywords: adult congenital heart disease; resources; patient survival

OBJECTIVE—To investigate mortality, cause of death, survival, and quality of life in all types of cardiac malformation with congenital pulmonary atresia.
DESIGN—Retrospective analysis.
SETTING—The resident population of one health region with a single tertiary referral centre.
PATIENTS—All babies with pulmonary atresia live born in 1980 to 1995.
MAIN OUTCOME MEASURES—Anatomical classification, total mortality, cause of death, duration of survival, exercise ability. All cases were classified as pulmonary atresia with intact septum (PA-IVS), pulmonary atresia with ventricular septal defect (PA-VSD), or pulmonary atresia with complex cardiac malformation (complex pulmonary atresia).
RESULTS—129 cardiac malformations with congenital pulmonary atresia were identified from 601 635 live births (21.4/100 000): 29 had PA-IVS, 60 had PA-VSD, and 40 had complex pulmonary atresia. Total mortality was 72/129 (56%), with 15 deaths in the first week and 49 in the first year. There were 23 surgical deaths, 33 hospital deaths (not related to surgery), and 16 sudden deaths, 12 of which remained unexplained. The sudden death rate was 29/1000 patient years of follow up. Of the 57 survivors, 39% have exercise ability I or II and 61% III or IV. Definitive surgical repair produced better exercise ability.
CONCLUSIONS—Early mortality is high in all types of pulmonary atresia, although survival has improved in recent years. Most children who have not undergone definitive repair have significant exercise limitation.


Keywords: congenital heart disease; pulmonary atresia; sudden death; quality of life

OBJECTIVE—To identify the incidence, causes, and characteristics of sudden death at age 1-20 years.
DESIGN—A review of all deaths at age 1-20 years. Death certificates were obtained from the Office for National Statistics, and further information, where appropriate, from coroners, paediatricians, physicians, and pathologists.
SETTING—The resident population of one English health region in 1985-1994.
RESULTS—In a population of 806 500 children and adolescents aged 1-20 years there were 2523 deaths in 10 years. Medical causes accounted for 1017 deaths (40%); 1236 (49%) were unnatural, and 270 (11%) were sudden. These sudden deaths comprised 142 with a previous diagnosis, the commonest being epilepsy 49 (34%), cardiovascular disease 33 (23%), and asthma 30 (21%); 87 attributed to a cause discovered at necropsy, which was respiratory infection in 32 (37%), other infections in 17 (20%), and unsuspected cardiovascular abnormalities in 26 (30%); 41 remained unexplained.
CONCLUSIONS—Half of all sudden deaths in children or adolescents were attributed to an already diagnosed condition. Abnormalities identified at necropsy accounted for one third of sudden deaths. Undiagnosed hypertrophic cardiomyopathy caused less than one death per million person years in the population aged 1-20 years. Unexplained sudden death, which may be caused by primary cardiac arrhythmia, is probably about 10 times more common.


Keywords: sudden death; necropsy; paediatric cardiology

OBJECTIVE—To investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare "anatomical" and "physiological" diagnostic hierarchies within a population.
DESIGN—Retrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy.
SETTING—The resident population of one health region.
PATIENTS—All infants live born from 1985 to 1997 with cardiovascular malformations confirmed by echocardiography, cardiac catheterisation, surgery or autopsy.
MAIN OUTCOME MEASURES—Year to year variation in prevalence of individual malformations and of "complex", "significant", and "minor" groups.
RESULTS—2671 babies with cardiovascular malformations were confirmed in a denominator population of 477 960 live births (5.6 per 1000). There was no change over 13 years in the birth prevalence of "complex" or "significant" defects, but a highly significant increase in "minor" defects (p < 0.0001), mainly small ventricular septal defects. Termination of pregnancy increased from no cases in 1985 to 16 in 1997 with no demonstrable effect on live born babies with heart defects. A one dimensional "anatomical" diagnostic hierarchy led to under ascertainment of pulmonary atresia by 27%, coarctation of the aorta by 39%, and interruption of the aorta by 100%.
CONCLUSIONS—The apparent increase in live born cardiovascular malformations results mainly from improved diagnosis of minor defects. There has been no change over time in birth prevalence of more serious defects. Spontaneous year to year variation in numbers will make it difficult to ascribe any short term changes to any particular intervention. A two dimensional diagnostic hierarchy is offered as a standard.


Keywords: congenital heart defects; epidemiology; infancy; temporal variability

OBJECTIVE—To define the range and variability of ambulatory blood pressure in normal schoolchildren.
DESIGN—Prospective study.
METHODS—Resting blood pressure of 1121 schoolchildren from Newcastle upon Tyne was recorded. An ambulatory blood pressure device, which uses both auscultatory (Korotkoff) and oscillometric methods of blood pressure measurement, was then put in place for 24hours.
RESULTS—The day was divided into three time periods: school, home, and night time. Normal centiles for blood pressure for each of these time periods were obtained and many daytime readings were outside reported normal resting levels. The normal variation of blood pressure was quantified by comparing each of these time periods with the resting readings. Resting systolic blood pressure did not predict 24 hour mean systolic blood pressure.
CONCLUSIONS—The availability of normal ambulatory blood pressure data on the level and variation of blood pressure in children may facilitate the early identification of hypertension in this age group.



AIM—To attempt to define the prevalence and significance of murmurs detected on routine clinical examination at six to eight weeks.
METHODS—A retrospective review of the results of routine clinical examination of a cohort of 6 to 8 week old babies resident in Newcastle upon Tyne, was carried out in two 12 month periods. All cardiac defects diagnosed in infancy in the same cohort were ascertained.
RESULTS—7132 babies were eligible for routine examination; 83% of these were examined. Murmurs were heard in 47 of 5395 babies and in 11 of 25 referred for evaluation congenital heart disease was found. The six to eight week examination led to diagnosis of 11of 35 cases (31%) of congenital heart disease in the study population.
CONCLUSIONS—Nearly one baby in 100 had a murmur on routine examination at six to eight weeks. Nearly half of those with murmurs who were referred had a structural cardiovascular malformation. 



AIM—To determine the prevalence and clinical significance of murmurs detected during routine neonatal examination.
METHODS—In a two year prospective study, 7204 newborn babies underwent routine examination by senior house officers. All those with murmurs underwent echocardiographic examination. All babies presenting later in infancy were also identified, to ascertain the total prevalence of congenital heart disease in infancy.
RESULTS—Murmurs were detected in 46 babies (0.6%) of whom 25 had a cardiac malformation. The most common diagnosis was a ventricular septal defect, although four babies had asymptomatic left heart outflow obstruction. A further 32 infants from the same birth cohort had a normal neonatal examination but were found to have a cardiac malformation before 12 months of age.
CONCLUSIONS—The neonatal examination detects only 44% of cardiac malformations which present in infancy. If a murmur is heard there is a 54% chance of there being an underlying cardiac malformation. Parents and professionals should be aware that a normal neonatal examination does not preclude a clinically significant cardiac malformation. The detection of a murmur should prompt early referral to a paediatric cardiologist for diagnosis or appropriate reassurance.



AIM—To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease.
METHODS—A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987-94
RESULTS—Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164(65%).
CONCLUSIONS—Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function.



AIMS—To determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this with the prevalence of other chromosomal abnormalities causing significant heart disease. To determine a minimum prevalence of deletions within chromosome band 22q11 in infants in the general population. 
METHODS—Chromosome analysis was performed on samples from infants born in the former UK Northern Health Region in 1994 and 1995 who either had significant heart disease or who were suspected to have a chromosome band 22q11 deletion following referral to the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy.
RESULTS—Chromosome band 22q11 deletions were identified in nine infants in a population of 69 129 livebirths, giving a minimum prevalence of 13 per 100 000 (95% confidence interval 4.5 to 21.5). Six cases had significant heart disease, one of whom died before diagnosis. In the same population there were 53 cases of trisomy 21, 15 of whom had significant heart disease. 
CONCLUSION—The most common chromosomal cause of significant congenital heart disease remains trisomy 21, while the second most common chromosomal cause is deletion in chromosome band 22q11.



AIM—To predict the effect of maternal serum screening and fetal echocardiography on the birth prevalence of Down's syndrome.
METHODS—The outcome of all Down's syndrome pregnancies in the Northern Health Region between 1985 and 1991 was retrospectively ascertained. The number and outcome of all Down's syndrome pregnancies were used to define a theoretical population which would exist in the absence of screening. Published reports were used to predict the effects of screening strategies.
RESULTS—Down's syndrome was identified in 412 pregnancies of which 315 (76%) resulted in live birth. A theoretical population with no antenatal screening would be expected to produce 31 stillbirths and 381 (92%) live births affected by Down's syndrome. In the same population a programme of maternal serum screening and fetal echocardiography would lead to 155 and 14 terminations, respectively, and when combined, would reduce affected live births to 229 (56%).
CONCLUSIONS—Even if maternal serum screening and fetal echocardiography achieve their predicted potential, around half of all pregnancies affected by Down's syndrome will result in live born babies.

 Keywords: Down's syndrome; screening; maternal serum screening.

OBJECTIVE--To predict the effect of antenatal ultrasound screening for congenital heart disease and maternal serum screening of Down's syndrome on the practice of paediatric cardiology and paediatric cardiac surgery. DESIGN--A retrospective and prospective ascertainment of all congenital heart disease diagnosed in infancy in 1985-1991. SETTING--One English health region. PATIENTS--All congenital heart disease diagnosed in infancy by echocardiography, cardiac catheterisation, surgery, or necropsy was classified as "complex", "significant", or "minor" and as "detectable" or "not detectable" on a routine antenatal ultrasound scan. RESULTS--1347 infants had congenital heart disease which was "complex" in 13%, "significant" in 55%, and "minor" in 32%. 15% of cases were "detectable" on routine antenatal ultrasound. Assuming 20% detection and termination of 67% of affected pregnancies, liveborn congenital heart disease would be reduced by 2%, infant mortality from congenital heart disease by 5%, and paediatric cardiac surgical activity by 3%. Maternal screening for Down's syndrome, assuming 75% uptake, 60% detection, and termination of all affected pregnancies, would reduce liveborn cases of Down's syndrome by 45%, liveborn cases of congenital heart disease by 3.5%, and cardiac surgery by 2.6%. CONCLUSIONS--Screening for congenital heart disease using the four chamber view in routine obstetric examinations and maternal serum screening for Down's syndrome is likely to have only a small effect on the requirements for paediatric cardiology services and paediatric cardiac surgery.

This study documents the presentation of acutely life threatening congenital heart disease in infancy in order to assess the performance of screening examinations soon after birth and at 6 weeks of age. All cases of obstructive left heart malformations presenting in infancy in one health region from 1987-91 were analysed retrospectively. Altogether, 120 infants presented with either hypoplastic left heart syndrome, interruption of the aortic arch, coarctation of the aorta, or aortic valve stenosis. Twelve became symptomatic or died within 24 hours. Thirty four had an abnormal neonatal examination, eight of whom were referred. Six more became symptomatic before discharge. Ninety four babies went home, 51 developed heart failure before 6 weeks, and another seven died without diagnosis. Twenty five of 36 (69%) reaching 6 weeks without diagnosis had a second examination which was abnormal in 17. Two babies died undiagnosed after 6 weeks and the other 18 presented at up to 11 months of age. The neonatal and 6 week examinations perform poorly as screening tests for congenital heart disease. A normal neonatal examination does not exclude life threatening congenital heart disease.

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