Major heart defects: the diagnostic evaluations of first-year-olds

Abstract

Background Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. Methods Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0–7 days), late neonatal (8–28 days), early infancy (1–6 months), or late infancy (6–12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. Results There were 598 major CHDs diagnosed in the studied region, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses. Conclusions In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

Detection of severe congenital heart defects in live‐born infants in Norway 2017–2020

“…Most of them were detected due to findings during routine clinical examination or by POX. Auscultation of a heart murmur is probably the most frequent reason for echocardiographic examination of newborn infants due to the routine clinical examination 39 . According to Meberg et al, a large number of infants with CHDs was diagnosed due to symptoms or comorbidity outside of the routine screening 28 .…”

“…Auscultation of a heart murmur is probably the most frequent reason for echocardiographic examination of newborn infants due to the routine clinical examination. 39 According to Meberg et al, a large number of infants with CHDs was diagnosed due to symptoms or comorbidity outside of the routine screening. 28 Therefore, we suppose that many of the CHDs detected in relation to routine screening would be referred for further cardiac assessment due to symptoms or comorbidity in any case.…”

Effects of antibiotics, hospitalisation and surgical complications on self-reported immunological vulnerability following paediatric open-heart surgery and thymectomy: a single-centre retrospective cohort study

“…We additionally classified the defect types either mild or complex to further evaluate the effect of the cardiac condition. Cyanotic defects, including UVH defects, transposition of the great arteries (TGA), tetralogy of Fallot (TOF), total anomalous pulmonary venous return (TAPVR), interrupted aortic arch, double-outlet right ventricle, pulmonary atresia with ventricular septal defect and Ebstein’s anomaly, 18 were classified as complex. Other heart defects were categorised as mild.…”

Major congenital heart defects are rarely diagnosed after newborns' hospital discharge with modern screening

“…The majority of delayed diagnoses were VSDs and coarctations of the aorta (CoA). Symptoms leading to diagnoses were most commonly murmur (51%) and cyanosis (26%) 9 …”

“…Symptoms leading to diagnoses were most commonly murmur (51%) and cyanosis (26%). 9 In Finland, CHDs are currently screened effectively with foetal anomaly screening, with pulse oximetry screening directly after birth and with clinical examination before discharge from delivery hospital. The purpose of this study was to assess the amount and severity of undiagnosed CHDs in this highly pre-screened population after discharge from the delivery hospital.…”