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 stud...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Jan Pavlicek, Eva Klaskova, Sabina Kapralova, Alzbeta Moravova Palatova, Alicja Piegzova, Richard Spacek, Tomas Gruszka
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Congenital heart defect Cyanosis Murmur Symptom Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/fa7d19dfe08542b4b169998aa35c5ee1
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:fa7d19dfe08542b4b169998aa35c5ee1
record_format	dspace
spelling	oai:doaj.org-article:fa7d19dfe08542b4b169998aa35c5ee12021-12-05T12:21:11ZMajor heart defects: the diagnostic evaluations of first-year-olds10.1186/s12887-021-02997-21471-2431https://doaj.org/article/fa7d19dfe08542b4b169998aa35c5ee12021-11-01T00:00:00Zhttps://doi.org/10.1186/s12887-021-02997-2https://doaj.org/toc/1471-2431Abstract 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.Jan PavlicekEva KlaskovaSabina KapralovaAlzbeta Moravova PalatovaAlicja PiegzovaRichard SpacekTomas GruszkaBMCarticleCongenital heart defectCyanosisMurmurSymptomPediatricsRJ1-570ENBMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Congenital heart defect Cyanosis Murmur Symptom Pediatrics RJ1-570
spellingShingle	Congenital heart defect Cyanosis Murmur Symptom Pediatrics RJ1-570 Jan Pavlicek Eva Klaskova Sabina Kapralova Alzbeta Moravova Palatova Alicja Piegzova Richard Spacek Tomas Gruszka Major heart defects: the diagnostic evaluations of first-year-olds
description	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.
format	article
author	Jan Pavlicek Eva Klaskova Sabina Kapralova Alzbeta Moravova Palatova Alicja Piegzova Richard Spacek Tomas Gruszka
author_facet	Jan Pavlicek Eva Klaskova Sabina Kapralova Alzbeta Moravova Palatova Alicja Piegzova Richard Spacek Tomas Gruszka
author_sort	Jan Pavlicek
title	Major heart defects: the diagnostic evaluations of first-year-olds
title_short	Major heart defects: the diagnostic evaluations of first-year-olds
title_full	Major heart defects: the diagnostic evaluations of first-year-olds
title_fullStr	Major heart defects: the diagnostic evaluations of first-year-olds
title_full_unstemmed	Major heart defects: the diagnostic evaluations of first-year-olds
title_sort	major heart defects: the diagnostic evaluations of first-year-olds
publisher	BMC
publishDate	2021
url	https://doaj.org/article/fa7d19dfe08542b4b169998aa35c5ee1
work_keys_str_mv	AT janpavlicek majorheartdefectsthediagnosticevaluationsoffirstyearolds AT evaklaskova majorheartdefectsthediagnosticevaluationsoffirstyearolds AT sabinakapralova majorheartdefectsthediagnosticevaluationsoffirstyearolds AT alzbetamoravovapalatova majorheartdefectsthediagnosticevaluationsoffirstyearolds AT alicjapiegzova majorheartdefectsthediagnosticevaluationsoffirstyearolds AT richardspacek majorheartdefectsthediagnosticevaluationsoffirstyearolds AT tomasgruszka majorheartdefectsthediagnosticevaluationsoffirstyearolds
_version_	1718372053558493184

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

Ejemplares similares