scholarly journals First symptoms of prenatally undetected heart defects

2020 ◽  
Author(s):  
Jan Pavlicek ◽  
Eva Klaskova ◽  
Sabina Kapralova ◽  
Alzbeta Palatova ◽  
Alicja Piegzova ◽  
...  
Keyword(s):  
Retrospective Cohort ◽  
Congenital Heart ◽  
Clinical Symptoms ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Normal Karyotype ◽  
Individual Risk ◽  
Heart Murmur ◽  
Live Births ◽  
Pediatric Cardiologist

Abstract Background: Severe or critical congenital heart defects (CHDs) are 35% of those detected only after birth. The aim of the study was to measure the incidence of these CHDs, identify their clinical symptoms, and determine individual risk periods for CHD manifestation. Methods: This retrospective cohort study was conducted from 2009 to 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was noted as early neonatal (0–7 days), late neonatal (8–28 days), in early infancy (1–6 months), or in late infancy (6–12 months). The first symptom for which the child was referred to a pediatric cardiologist was defined as a symptom of CHD. Results : There were 598 severe CHDs diagnosed (3.3 cases/1000), and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20%, and extracardiac pathology with a normal karyotype was present in 10%. Of the total, 53% of CHDs were detected prenatally and excluded. The remaining 47% developed CHD symptoms postnatally. Of these, 74% were diagnosed as early neonates, 16% as late neonates, and 10% as infants. Defects requiring repeated operations manifested significantly earlier than those with requiring one primary correction. The most common symptoms leading to the diagnosis of CHD were heart murmur and cyanosis. Conclusions : Despite the effectiveness of prenatal diagnosis, some children will be born with undiagnosed major heart defects. Assessment of symptoms and early detection of the defect is crucial.

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

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jan Pavlicek ◽  
Eva Klaskova ◽  
Sabina Kapralova ◽  
Alzbeta Moravova Palatova ◽  
Alicja Piegzova ◽  
...  
Keyword(s):  
Septal Defect ◽  
Clinical Symptoms ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Coarctation Of The Aorta ◽  
Normal Karyotype ◽  
Maternity Hospital ◽  
Individual Risk ◽  
First Year ◽  
Heart Murmur

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.

scholarly journals Prenatally undetected major heart defects: clinical findings and time of diagnosis

2020 ◽  
Author(s):  
Jan Pavlicek ◽  
Eva Klaskova ◽  
Sabina Kapralova ◽  
Alzbeta Palatova ◽  
Alicja Piegzova ◽  
...  
Keyword(s):  
Septal Defect ◽  
Clinical Symptoms ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Coarctation Of The Aorta ◽  
Normal Karyotype ◽  
Maternity Hospital ◽  
Clinical Findings ◽  
Individual Risk ◽  
Heart Murmur

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, and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20% of the cases, while 10% 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 (53%, 149/282) and cyanosis (24%, 69/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Most delayed diagnoses consisted of ventricular septal defect and coarctation of the aorta. 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.

scholarly journals Williams-Beuren Syndrome:A Rare Case from Western India

2016 ◽  
Vol 1 (1) ◽  
pp. 1
Author(s):  
Pankaj K. Gadhia ◽  
Salil N. Vaniawala
Keyword(s):  
Williams Syndrome ◽  
Congenital Heart Defects ◽  
Rare Case ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Western India ◽  
Renal Anomalies ◽  
Live Births

Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder having incidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 - 28 contiguous genes including elastin (ELN) on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.

scholarly journals A Rare Mutation In Noonan Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 1-4
Author(s):  
Vasco Carvalho ◽  
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Mutation ◽  
Live Births ◽  
Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

Out-of-hospital sudden cardiac arrest in children with congenital heart defects

2017 ◽  
Vol 103 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Jarle Jortveit ◽  
Jakob Klcovansky ◽  
Gaute Døhlen ◽  
Leif Eskedal ◽  
Sigurd Birkeland ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Sudden Cardiac Arrest ◽  
Supplementary Information ◽  
Clinical Registry ◽  
Birth Registry ◽  
Live Births ◽  
Hospital Cardiac Arrest

AimsOut-of-hospital sudden cardiac arrest (SCA) is a rare but devastating event in children and adolescents. The risk is assumed to be higher in children with congenital heart defects (CHDs) than in healthy individuals. The aim of the present study was to investigate the rate of and survival after out-of-hospital cardiac arrest in children 2–18 years old with CHDs.Methods and resultsData concerning all live births in Norway between 1994 and 2009 were retrieved from the Medical Birth Registry of Norway, the patient administrative systems at all hospitals in Norway, the Oslo University Hospital’s Clinical Registry for Congenital Heart Defects and the Norwegian Cause of Death Registry. Survivors were followed through 2012, and supplementary information for the deceased children was retrieved from medical records at Norwegian hospitals. Among the 943 871 live births in Norway from 1994 to 2009, 11 272 (1.2%) children had a CHD. We identified 11 (0.1%) children 2–18 years old with CHDs who experienced out-of-hospital SCA. The estimated rate of out-of-hospital SCA in children 2–18 years old with CHD was 10 per 100 000 person-years. Early cardiopulmonary resuscitation was initiated in all patients. Three children survived.ConclusionsThe incidence of and survival after out-of-hospital SCA in children with CHDs were comparable to the reported rates in the general child population.

scholarly journals Genetic testing for coarctation of aorta

2018 ◽  
Vol 2 (s1) ◽  
pp. 64-66
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Neonatal Period ◽  
Heart Defects ◽  
Coarctation Of The Aorta ◽  
Coarctation Of Aorta ◽  
Descending Thoracic Aorta ◽  
Routine Examination ◽  
Live Births ◽  
Gene Test ◽  
Medial Thickening

Abstract Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

Proceedings ◽  
2019 ◽  
Vol 22 (1) ◽  
pp. 53
Author(s):  
Castilla-Vallmanya ◽  
Urreizti ◽  
Franco ◽  
Amiel ◽  
Tan ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Rare Genetic Disorder

Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized bymultiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual andpsychomotor delay. [...]

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