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Introduction: Ventricular septal defect (VSD) is one of the most common congenital heart defects. We aimed to determine the prevalence of VSD in a population-based cohort of newborns and assess the rate of spontaneous closure during the first 12 months of life., Methods: The Copenhagen Baby Heart Study (CBHS) is a population-based cohort study, including more than 25,000 newborns born in the greater Copenhagen area. Newborns underwent echocardiography within 60 days of birth. Newborns with VSDs had echocardiographic follow-up after 3, 6, and 12 months., Results: A total of 850 newborns (3.3% of 25.556) with a VSD were identified in the CBHS. Of these, 787 (92.6% [95% CI 90.1-94.2]) were muscular VSDs, 60 (7.0% [95% CI, 5.5-9.0]) were perimembranous, and 3 (0.4% [95% CI, 0.0-1.1]) were subarterial. After 1 year, 83.5% (607 of 727) of all VSDs had closed spontaneously, resulting in a decrease of prevalence from 3.3% at birth to 0.5% in 1-year old children. Muscular VSDs showed significantly higher rate of spontaneous closure compared with perimembranous VSDs (86.9% (582/670) vs. 46.9% (25/54), p < 0.001). Determinants associated with spontaneous closure were smaller size of the VSD (p < 0.001) and the absence of multiple VSDs (p < 0.0025)., Conclusion: The prevalence of VSDs in unselected newborns was 3.3%. Almost 9/10 of all VSDs identified in newborns, close spontaneously during the first year of life, ultimately resulting in a prevalence of VSD in 1-year-old children of 0.5%. The identified factors associated with spontaneous closure were muscular type, small size, and absence of multiple VSDs., (© 2024 S. Karger AG, Basel.)

During the first month of life, the relation between right and left ventricular function is markedly altered. We aimed at describing the electrocardiographic transition from fetal to neonatal circulation by investigating changes in R- and S-wave amplitudes in V1 and V6 during the first 4 weeks of life. This study is part of the prospective, population-based Copenhagen Baby Heart Study offering cardiac evaluation to newborns within 28 days from birth. ECGs were obtained and analyzed using a computerized algorithm. A total of 14,577 newborns (52% boys), median age of 11.0 days, were included. All had normal echocardiograms. Within 28 days from birth, the amplitudes in V1 decreased: R-V1 (1262 µV day0; 947 µV day28, p < 0.001) and S-V1 (1240 µV day0; 473 µV day28, p < 0.001). An increase was observed for R-V6 (825 µV day0; 1196 µV day28, p = 0.002), while S-V6 decreased (830 µV day0; 634 µV day28, p = 0.003). For all amplitudes, interindividual variation was large (up to 20 times). The amplitudes were not affected by sex (p > 0.05), but R-V1, R-V6, and S-V6 positively correlated with newborn weight (p < 0.01). R-V1 and S-V6 showed positive correlation with gestational age (p < 0.05). In conclusion, systematic analyses of ECGs from healthy newborns showed significant decreases in R-V1, S-V1, and S-V6 amplitudes, while R-V6 increased. Interindividual variation was large, making ECGs unlikely as a sensitive tool for diagnosing congenital heart diseases. Our data may serve as updated, digitalized reference values in newborns.

Importance: The prevalence and characteristics of bicuspid aortic valve (BAV) are mainly reported from selected cohorts. BAV is associated with aortopathy, but it is unclear if it represents a fetal developmental defect or is secondary to abnormal valve dynamics., Objective: To determine the prevalence of BAV and BAV subtypes and to describe the associated aortopathy in a large, population-based cohort of newborns., Design, Setting, and Participants: The Copenhagen Baby Heart Study was a cross-sectional, population-based study open to all newborns born in Copenhagen between April 1, 2016, and October 31, 2018. Newborns with BAV were matched 1:2 to newborns with a tricuspid aortic valve (non-BAV group) on sex, singleton/twin pregnancy, gestational age, weight, and age at time of examination., Exposures: Transthoracic echocardiography within 60 days after birth., Main Outcomes and Measures: Primary outcome was BAV prevalence and types, ie, number of raphes and spatial orientation of raphes or cusps (no raphes), according to the classification system of Sievers and Schmidtke (classified as type 0, 1, or 2, with numbers indicating the number of raphes). Secondary outcome was valve function and BAV-associated aortopathy, defined as aortic diameter z score of 3 or greater or coarctation., Results: In total, 25 556 newborns (51.7% male; mean age, 12 [SD, 8] days) underwent echocardiography. BAV was diagnosed in 196 newborns (prevalence, 0.77% [95% CI, 0.67%-0.88%]), with male-female ratio 2.1:1. BAV was classified as type 0 in 17 newborns (8.7% [95% CI, 5.5%-13.5%]), type 1 in 178 (90.8% [95% CI, 86.0%-94.1%]) (147 [75.0% {95% CI, 68.5%-80.5%}] right-left coronary raphe, 27 [13.8% {95% CI, 9.6%-19.3%}] right coronary-noncoronary raphe, 4 [2.0% {95% CI, 0.8%-5.1%}] left coronary-noncoronary raphe), and type 2 in 1 (0.5% [95% CI, 0.1%-2.8%]). Aortic regurgitation was more prevalent in newborns with BAV (n = 29 [14.7%]) than in those without BAV (1.3%) (absolute % difference, 13.4% [95% CI, 7.8%-18.9%]; P < .001). Newborns with BAV had higher flow velocities across the valve (0.67 [95% CI, 0.65-0.69] m/s vs 0.61 [95% CI, 0.60-0.62] m/s; mean difference, 0.06 m/s [95% CI, 0-0.1]) and larger aortic root and tubular ascending aortic diameters than those without BAV (10.7 [95% CI, 10.7-10.9] mm vs 10.3 [95% CI, 10.2-10.4] mm; mean difference, 0.43 mm [95% CI, 0.2-0.6 mm] and 9.8 [95% CI, 9.6-10.0] mm vs 9.4 [95% CI, 9.3-9.5] mm; mean difference, 0.46 mm [95% CI, 0.30-0.70], respectively) (P < .001 for all). Aortopathy was seen in 65 newborns (33.2%) with BAV (62 with aortic z score ≥3; 3 with coarctation)., Conclusions and Relevance: Among newborns in Copenhagen, the prevalence of BAV was 0.77%. Aortopathy was common in newborns with BAV, suggesting that it also represents a fetal malformation.

Background: The Copenhagen Baby Heart Study (CBHS) is a population-based cohort study of neonates (N = 25,000), including echocardiography. Echocardiography in neonates is mainly focused on congenital heart disease (CHD), whereas general aspects of cardiac dimensions and function in neonates without CHD remain to be further addressed., Purpose: This study was conducted to assess the reliability of neonatal echocardiography and validity of echocardiographic methods used in the CBHS., Methods: Reliability and agreement were tested for two-dimensional (2D), M-mode, spectral Doppler, and tissue velocity echocardiography for the following. (1) Measurements: seven sonographers independently performed two measurement rounds: (a) measurement of the same 50 echocardiograms (n = 350 echocardiograms measured) and (b) repeated measurement of 25 of the 50 echocardiograms (n = 175 echocardiograms measured). (2) Acquisition: four sonographers independently performed two rounds of echocardiographic acquisition and subsequent measurement of the same 22 neonates (n = 176 acquisitions and measures). Intra- and interobserver variabilities were assessed by determinations of coefficient of variation (CV), intraclass correlation coefficient (ICC), Bland-Altman plot, and 95% limits of agreement., Results: (1) Measurements: we found intra- and interobserver ICC ≥ 0.67 for 2D parameters, except for left ventricular (LV) wall thicknesses and LV diameter (interobserver); ICC ≥ 0.84 for tricuspid annular plane systolic excursion (TAPSE); ICC ≥ 0.93 for pulsed-wave Doppler (PW); ICC ≥ 0.84 for continuous-wave Doppler; and ICC ≥ 0.87 for tissue velocity parameters. We found CV < 15% for all parameters except LV wall thicknesses. (2) Acquisition: we found intra- and interobserver ICC ≥ 0.69 for 2D parameters, except for LV wall thicknesses, aortic valve annulus (interobserver), and LV end-systolic diameter (interobserver); ICC = 0.45-0.49 for TAPSE; ICC = 0.48-0.64 for PW; and ICC ≥ 0.70 for continuous wave. We found CV < 15% for all parameters., Conclusions: Reliability of echocardiographic measurements and acquisition of cardiac dimensions and function were good for most parameters but lower for TAPSE (acquisition) and PW Doppler (acquisition) and poor for LV wall thicknesses. In general, echocardiography of cardiac dimensions and function in the neonate is reliable., (Copyright © 2019 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Congenital heart diseases (CHDs) are reported in 0.8% of newborns. Numerous factors influence cardiovascular development and CHD prevalence, and possibly also development of cardiovascular disease later in life. However, known factors explain the probable etiology in only a fraction of patients. Past large-scale population-based studies have made invaluable contributions to the understanding of cardiac disease, but none recruited participants prenatally and focused on the neonatal period. The Copenhagen Baby Heart Study (CBHS) is a population-based study of the prevalence, spectrum, and prognosis of structural and functional cardiac abnormalities. The CBHS will also establish normal values for neonatal cardiac parameters and biomarkers, and study prenatal and early childhood factors potentially affecting later cardiovascular disease risk. The CBHS is an ongoing multicenter, prospective study recruiting from second trimester pregnancy (gestational weeks 18-20) (expected n = 25,000). Information on parents, pregnancy, and delivery are collected. After birth, umbilical cord blood is collected for biochemical analysis, DNA purification, and biobank storage. An echocardiographic examination, electrocardiography, and post-ductal pulse oximetry are performed shortly after birth. Infants diagnosed with significant CHD are referred to a specialist or admitted to hospital, depending on CHD severity. CBHS participants will be followed prospectively as part of specific research projects or regular clinical follow-up for CHD. CBHS design and methodology are described. The CBHS aims to identify new mechanisms underlying cardiovascular disease development and new targets for prevention, early detection, and management of CHD and other cardiac diseases presenting at birth or developing later in life.