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Our aim was to investigate the ability of an artificial intelligence (AI)-based algorithm to differentiate innocent murmurs from pathologic ones. An AI-based algorithm was developed using heart sound recordings collected from 1413 patients at the five university hospitals in Finland. The corresponding heart condition was verified using echocardiography. In the second phase of the study, patients referred to Helsinki New Children's Hospital due to a heart murmur were prospectively assessed with the algorithm, and then the results were compared with echocardiography findings. Ninety-eight children were included in this prospective study. The algorithm classified 72 (73%) of the heart sounds as normal and 26 (27%) as abnormal. Echocardiography was normal in 63 (64%) children and abnormal in 35 (36%). The algorithm recognized abnormal heart sounds in 24 of 35 children with abnormal echocardiography and normal heart sounds with normal echocardiography in 61 of 63 children. When the murmur was audible, the sensitivity and specificity of the algorithm were 83% (24/29) (confidence interval (CI) 64–94%) and 97% (59/61) (CI 89–100%), respectively. Conclusion: The algorithm was able to distinguish murmurs associated with structural cardiac anomalies from innocent murmurs with good sensitivity and specificity. The algorithm was unable to identify heart defects that did not cause a murmur. Further research is needed on the use of the algorithm in screening for heart murmurs in primary health care. What is Known: • Innocent murmurs are common in children, while the incidence of moderate or severe congenital heart defects is low. Auscultation plays a significant role in assessing the need for further examinations of the murmur. The ability to differentiate innocent murmurs from those related to congenital heart defects requires clinical experience on the part of general practitioners. No AI-based auscultation algorithms have been systematically implemented in primary health care. What is New: • We developed an AI-based algorithm using a large dataset of sound samples validated by echocardiography. The algorithm performed well in recognizing pathological and innocent murmurs in children from different age groups. [ABSTRACT FROM AUTHOR]

The purpose of the study is to assess the risks of neurodevelopmental morbidity among preterm and growth restricted youth with congenital heart defects (CHD). This systematic review and meta-analysis included observational studies assessing neurodevelopmental outcomes among children with CHD born preterm (i.e., before 37 weeks of gestation) or growth restricted (small-for-gestational age (SGA) with a birthweight < the 10th percentile or with low birthweight (LBW) < 2500 g). Studies were identified in Medline and Embase databases from inception until May 2022, with data extracted by two blinded reviewers. Risk of bias was assessed using the Critical Appraisal Skills Programme cohort checklist. Meta-analysis involved the use of random-effects models. Main outcome measures were neurodevelopmental outcomes including overall cognitive impairment and intellectual disability, IQ, communication, and motor skills scores. From 3573 reports, we included 19 studies in qualitative synthesis and 6 meta-analysis studies. Risk of bias was low in 8/19 studies. Cognitive impairment and intellectual disability were found in 26% (95% CI 20–32, I2 = 0%) and 19% (95% CI 7–35, I2 = 82%) of preterm children with CHD, respectively. Two studies documented a lower IQ score for SGA children who underwent CHD operations in comparison to non-SGA children who also underwent CHD operations. Two studies have reported lower IQ, communication, and motor skills in children with hypoplastic left heart syndrome (HLHS) and low birth weight compared to those with HLHS and expected birth weight. Conclusions: Based on a low level of evidence, prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. Further evidence is needed to confirm these findings. Trial registration: PROSPERO [CRD42020201414]. What is Known: • Children born with CHD, preterm birth, or growth restriction at birth are independently at higher risk for neurodevelopmental impairment. • The additional effect of preterm birth and/or growth restriction on neurodevelopmental outcomes in children with CHD remains unclear. What is New: • Prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. • Children with CHD, particularly those born preterm or with growth restriction, should undergo lifelong systematic comprehensive neurodevelopmental assessment. [ABSTRACT FROM AUTHOR]

To explore the effect of a daily goal checklist on pediatric cardiac intensive care unit (PCICU) length of stay (LOS) after congenital heart surgery. This study is a prospective randomized single-center study. Group characteristics were as follows: STANDARD group: n = 30, 36.7% female, median age 0.9 years; control group: n = 33, 36.4% female, median age 1.1 years. Invasive ventilation time, STAT categories, mean vasoactive-inotropic score (VIS)24h, maximal (max.) VIS24h, mean VIS24–48h, max. VIS24–48h, VIS category, number of sedatives, analgesics, diuretics, number of deployed diagnostic modalities, morbidities, and mortality did not differ between both groups. Median PCICU LOS was 96.0 h (STANDARD group) versus 101.5 h (control group) (p = 0.63). In the overall cohort, univariate regression analysis identified age at surgery (b = −0.02), STAT category (b = 18.3), severity of CHD (b = 40.6), mean VIS24h (b = 3.5), max. VIS24h (b = 2.2), mean VIS24–48h (b = 6.5), and VIS category (b = 13.8) as significant parameters for prolonged PCICU LOS. In multivariate regression analysis, age at surgery (b = −0.2), severity of CHD (b = 44.0), and mean VIS24h (b = 6.7) were of significance. Within the STANDARD sub-group, univariate regression analysis determined STAT category (b = 32.3), severity of CHD (b = 70.0), mean VIS24h (b = 5.0), mean VIS24–48h (b = 5.9), number of defined goals (b = 2.6), number of achieved goals (b = 3.3), number of not achieved goals (b = 10.8), and number of unevaluated goals (b = 7.0) as significant parameters for prolonged PCICU LOS. Multivariate regression analysis identified the number of defined goals (b = 2.5) and the number of unevaluated goals (b = −3.0) to be significant parameters. Conclusion: The structured realization and recording of daily goals is of advantage in patients following pediatric cardiac surgery by reducing PCICU LOS. What is known: • Communication errors are the most frequent reasons for adverse events in intensive care unit patients. • Improved communication can be achieved by discussion and documentation of the patients' goals during daily rounds. What is new: • In the overall cohort age at surgery, severity of congenital heart defect and mean vasoactive inotropic score within the first 24 hours had significant impact on pediatric cardiac intensive care unit (PCICU) length of stay (LOS). • In the intervention group, the number of defined goals and the number of unevaluated goals were significant parameters for prolonged PCICU LOS. [ABSTRACT FROM AUTHOR]

Ventricular septal defects (VSD) represent the most common congenital heart defect in newborns. We assessed the electrocardiographic characteristics of newborns with VSDs in a general population sample. The Copenhagen Baby Heart Study is a prospective population–based cohort study offering cardiac evaluation of newborns. Echocardiograms and electrocardiograms were obtained within 30 days after birth and systematically analysed. A VSD was identified in 530 newborns (mean age 11 ± 7 days, 42% boys). Newborns with VSDs had a more left-shifted QRS axis (116 ± 34 vs. 120 ± 3°, p = 0.02), and a higher S-wave amplitude in V1 (721 ± 584 vs. 636 ± 549 µV, p = 0.001) than controls. The largest differences were found in newborns with large or perimembraneous VSDs with a higher frequency of left axis deviation, higher S-wave amplitudes in V1, and higher R- and S-wave amplitudes in V6 compared with controls. R-waves in V1 and V6 were significantly associated to left ventricular mass, whereas S-waves in V1 and V6 were dependent on left ventricular end-diastolic diameter on echocardiography. Conclusion: Newborns with VSDs showed significant differences in QRS axis, and R- and S-wave precordial amplitudes compared to matched controls. Perimembranous and large VSDs had the greatest effect on the neonatal ECG. What is Known: • Ventricular septal defects in newborns are prevalent and may affect cardiac function and structure. What is New: • The Copenhagen Baby Heart Study is the largest study including a cohort of unselected newborns undergoing postnatal cardiac examination. • We found that newborns with VSD showed significant electrocardiographic differences depending on size and type of VSD compared with healthy newborns. [ABSTRACT FROM AUTHOR]

The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tube), and to determine if any clinical signs, symptoms, or comorbidities correlated with a higher risk for needing placement of a G-tube. An electronic medical record retrospective chart review of 73 children with Down syndrome born between January 2013 and March 2017 and seen in Nationwide Children's Hospital's multidisciplinary Down Syndrome Clinic included demographic information, medical history, and results of studies and specialist evaluations. Descriptive statistics were utilized to summarize the data. Comparisons were performed to identify factors which differed between feeding difficulty vs. no feeding difficulty and G-tube placement vs. no G-tube placement. "Feeding difficulty" was the only feeding term established by the AAP guidelines which was consistently noted in charts of children with feeding abnormalities. Infants with feeding difficulty had increased use of medical services and more abnormalities on specialist evaluations and studies. Congenital heart disease, cardiothoracic surgery, obstructive sleep apnea, and hypothyroidism did not differ significantly between the groups assessed. Our cohort had a prevalence of 13.7% for requiring G-tube placement in their first year of life.Conclusion: The currently established clinical tools for determining which patients may benefit from radiographic evaluation lack sufficient sensitivity to detect all individuals with feeding difficulty. Due to the high prevalence of abnormal VSS results and high rate of G-tube placement, universal radiographic screening for individuals with Down syndrome could be considered, even in the absence of obvious clinical signs or symptoms. However, determining how to balance this with cost, availability, and radiation exposure may be difficult.What is Known: • Feeding difficulty in children with Down syndrome can lead to significantly increased morbidity, such as poor weight gain, failure to thrive, aspiration, persistent respiratory symptoms, andrecurrent pneumonia. • The AAP has established a clinical tool regarding which objective signs and symptoms should lead to a radiographic swallowing assessment within their Health Supervision for Children with Down Syndrome Clinical Report.What is New: • A comprehensive assessment of clinical signs, symptoms, and common comorbidities in infants with Down syndrome has not previously been correlated with presence of feeding difficulty nor necessity for gastrostomy tube placement, including whether or not the terms used in the AAP guidelines encompass the sensitivity required to detect all infants with feeding difficulty. • The prevalence of gastrostomy tube placement in children with Down syndrome has not previously been established. [ABSTRACT FROM AUTHOR]

Unlabelled: Aortic dilation at the level of the aortic root can be caused by a variety of congenital or acquired conditions that lead to weakening of the aortic wall. In this retrospective study, we sought to determine the frequency of different associated diagnoses from children with aortic dilation seen at a single institution. A total of 377 children (68 % male) met study inclusion criteria. Patients were classified based on the suspected or confirmed associated diagnosis in one of the following categories: congenital heart disease (241/377, 64 %), chromosomal (34/377, 9 %), Marfan syndrome (26/377, 7 %), other genetic and non-genetic (22/377, 6 %), Loeys-Dietz syndrome (6/377, 2 %), and unknown (48/377, 13 %). Bicuspid aortic valve was by far the most prevalent congenital heart defect (206/241, 85 %), while Turner syndrome was the most frequent chromosomal abnormality (12/34, 35 %). Patients with Marfan syndrome were more likely to have severe dilation of the ascending aorta (p = 0.002) and to require aortic root replacement surgery (p < 0.001) compared to those in other diagnosis categories.Conclusion: The differential diagnosis of aortic dilation is broad and requires a careful assessment of cardiac anatomy. Evaluation by a clinical geneticist in this setting should be strongly considered given the high frequency of associated genetic conditions.What Is Known: • Aortic dilation is frequent in bicuspid aortic valve and other congenital heart defects. • Aortic dilation can be seen in several connective tissue disorders. Limited information is available in regard to the differential diagnosis of aortic dilation in children.What Is New: • In patients with aortic dilation concurrent congenital heart disease is frequently diagnosed. • Almost 18 % of cases in the present study had a defined presumptive or confirmed genetic diagnosis. We suggest considering a genetics evaluation in the setting of aortic dilation. [ABSTRACT FROM AUTHOR]

Cardiovascular malformations are an important cause of infant death and the major cause of death due to malformation. Our aims were to analyse and categorise all deaths in infants with cardiovascular malformations, and to analyse trends in mortality over time and influences on mortality. We obtained details of infant deaths and cardiovascular malformations from the population of one health region for 1987-2006. We categorised deaths by cause and by presence of additional chromosomal or genetic abnormalities or non-cardiac malformations. In 676,927 live births the total infant mortality was 4,402 (6.5 per 1,000). A total of 4,437 infants had cardiovascular malformations (6.6 per 1000) of whom 458 (10.3%) died before 1 year of age. Of this number, 151 (33%) deaths had non-cardiac causes, 128 (28%) were cardiac without surgery and 179 (39%) occurred from cardiac causes after surgery. Death was unrelated to the cardiovascular malformation in 57% of infants with an additional chromosomal or genetic abnormality, in 76% of infants with a major non-cardiac malformation and in 16% of infants with an isolated cardiovascular malformation. Terminations of pregnancies affected by cardiovascular malformations increased from 20 per 100,000 registered births in the first 5 years to 78 per 100,000 in the last 5 years. A total of 2,067 infants (47%) underwent surgery and of these 216 (10%) died before 1 year of age. Conclusions: A total of 10.4% of infants who died had a cardiovascular malformation and two-thirds of deaths were due to the malformation or its treatment. Mortality declined due to increasing termination of pregnancy and improved survival after operation. [ABSTRACT FROM AUTHOR]

Measurement of various craniofacial structures was compared with clinical assessment of craniofacial anomalies. Different diagnostic groups of children were studied. Anomalies were seen more often in patients with congenital heart defect, mental retardation and multiple congenital anomalies syndromes than in control children. Comparative study of quantitative data and qualitative (clinical) assessment showed some agreement but also many discrepancies. Therefore, in describing craniofacial anomalies both methods should be used. This is particularly true in the differential diagnosis of multiple congenital anomalies syndromes and variant familial developmental patterns. [ABSTRACT FROM AUTHOR]

Endothelin (ET) is a potent vasoconstrictor peptide with an as yet uncertain physiological role in cardiovascular disease. We measured blood plasma ET concentrations using a recently developed radioimmunoassay and analysed the relations between ET concentration, systemic arterial pressure and systemic vascular resistance. In addition, ET levels before and after percutaneous balloon valvuloplasty and angioplasty were measured. Fifty-one patients were studied: (1) 13 patients with small left-to-right shunting or Kawasaki heart disease (age ranged from 4 to 144 months); (2) 10 patients who had undergone balloon valvuloplasty or angioplasty (age ranged from 1 to 233 months) and (3) 28 healthy infants and children (age ranged from 3 to 152 months). Systemic vascular resistance was calculated by the formula (mean aortic pressure--mean right atrial pressure) X 80/cardiac output (dyne.sec.cm-5). Plasma ET concentrations in healthy children less than 2 years were significantly higher than those over 2 years (2.48 +/- 0.62 vs 1.31 +/- 0.53 pg/ml). In eight patients in groups 1 and 2, plasma ET concentration in the pulmonary artery (2.00 +/- 0.43 pg/ml) was significantly lower than that in the femoral vein (2.39 +/- 0.69 pg/ml) and aorta (2.23 +/- 0.59 pg/ml), suggesting ET secretion derived from endothelial cells in peripheral pulmonary vessels. There was a significant positive correlation between ET concentrations in the femoral vein and systemic vascular resistance (r = 0.55, p less than 0.05). After balloon dilatation ET concentration rose from 2.15 +/- 0.82 pg/ml to 2.61 +/- 1.38 pg/ml.(ABSTRACT TRUNCATED AT 250 WORDS) [ABSTRACT FROM AUTHOR]

Recurrent apnoea and chronic hypoventilation have been implicated in the pathogenesis of the sudden infant death syndrome (SIDS) and markers of chronic hypoxaemia have been reported in such infants at post mortem examination. Markers of chronic hypoxaemia are common in cyanotic congenital heart disease. Glomerular enlargement in congenital heart disease is said to be related to hypoxaemia although the precise mechanism whereby this occurs is not clear. We have established a normal range of glomerular size for the postperinatal period and confirmed glomerular enlargement to be a common finding in children with congenital heart disease of similar age. In contrast glomerular size in SIDS is not different from controls. The results question the role of significant chronic hypoxaemia being involved in these deaths. [ABSTRACT FROM AUTHOR]

The accuracy of indirect oscillometric blood pressure measurements has been evaluated in 32 infants up to 11 months of age undergoing heart surgery. In a number of 1029 simultaneous measurements the indirect blood pressure was compared with the direct value obtained from a radial artery catheter. Cuffs of different sizes were applied. The main results were as follows: Regarding the ratio of cuff width to arm circumference, the best correlation between oscillometric and direct blood pressure measurements was obtained with a ratio of 0.38-0.41. The value of indirect blood pressure measurements depends on the absolute height of the blood pressure. In low blood pressure there is a tendency to underestimate and in high blood pressure there is a tendency to overestimate by the oscillometric blood pressure measurement. By applying an appropriate cuff size and by using our diagrams it should be possible to derive a direct value for the blood pressure on the basis of indirect oscillometric blood pressure measurements. [ABSTRACT FROM AUTHOR]

Three small infants presented with severely symptomatic ventricular septal defect, thought to require cardiac surgery, although the defect was not very large. Surgery for the associated congenital lobar emphysema led to recovery, and cardiac surgery was not necessary. [ABSTRACT FROM AUTHOR]

An asymptomatic young woman was discovered to have life-threatening aneurysms and dissection of the thoracic aorta during routine evaluation in a Turner syndrome (TS) study. The presence of a heart murmur and hypertension had led to diagnosis and surgical repair of an atrial septal defect at age 5 and of aortic coarctation at age 12. The diagnosis of TS was made at 16 years of age due to short stature and delayed pubertal development. She was treated with growth hormone from age 16 to 18 and with atenolol, thyroid hormone, and estrogen. She discontinued her medications and was lost to medical follow-up at age 20. Upon presenting here at age 26, she reported a very active lifestyle, including vigorous exercise and an acting career, with no symptoms of chest or back pain or shortness of breath. Cardiovascular imaging revealed aortic regurgitation, an unsuspected dissection of a severely dilated ascending aorta, and a large descending aortic aneurysm. She required surgical replacement of her aortic valve and ascending aorta, followed by endovascular repair of the descending aortic aneurysm. This patient illustrates the importance of considering the diagnosis of TS in girls with congenital aortic defects and the absolute necessity for close, expert follow-up of these patients who are at high risk for complications after surgical repair due to an underlying aortopathy, hypertension, and metabolic disorders. This patient also emphasizes the need to publicize and follow screening guidelines as there is an increasing number of patients with congenital defects who need transition to adult care. [ABSTRACT FROM AUTHOR]

An eight months old child with duplication 3p (p21 leads to 3pter) [karyotype: 46,XX,-6,+t(3;6)(6pter leads to 6q27::3p21 leads to 3pter)] resulting from a maternal balanced translocation (3;6) is described. The major clinical findings include congenital heart defects (several ventricular septal defects, atrial septal defect, patent ductus arteriosus, and double outlet right ventricle), and multiple dysmorphic features, such as brachycephaly, frontal bossing, square shaped face, hypertelorism, epicanthus, short prominent philtrum, and short neck. The motor development is retarded. The size of the duplicated segment of 3p is compared to 12 cases reported in the literature. Although the size of the duplicated segment differs in most of the patients, all show a similar pattern of developmental defects. It appears that the region 3p25 leads to 3pter is responsible for the phenotype of duplication 3p syndrome. [ABSTRACT FROM AUTHOR]

We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome. The natural history of that syndrome is poorly understood and provisional suggestion of a new syndrome will depend on further similar observations. [ABSTRACT FROM AUTHOR]