Genetic testing for coarctation of aorta

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.

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Impact of a Virtual Clinic in a Paediatric Cardiology Network on Northeast Brazil

International Journal of Telemedicine and Applications ◽

10.1155/2015/504015 ◽

2015 ◽

Vol 2015 ◽

pp. 1-4 ◽

Cited By ~ 3

Author(s):

Juliana Sousa Soares de Araújo ◽

Adalberto Vieira Dias Filho ◽

Renata Grigório Silva Gomes ◽

Cláudio Teixeira Regis ◽

Klecida Nunes Rodrigues ◽

...

Keyword(s):

Congenital Heart ◽

Pediatric Cardiology ◽

Neonatal Period ◽

Positive Impact ◽

Heart Diseases ◽

Heart Defects ◽

Neonatal Morbidity ◽

Outpatient Clinics ◽

Screening Process ◽

Live Births

Introduction. Congenital heart diseases (CHD) affect approximately 1% of live births and is an important cause of neonatal morbidity and mortality. Despite that, there is a shortage of paediatric cardiologists in Brazil, mainly in the northern and northeastern regions. In this context, the implementation of virtual outpatient clinics with the aid of different telemedicine resources may help in the care of children with heart defects.Methods. Patients under 18 years of age treated in virtual outpatient clinics between January 2013 and May 2014 were selected. They were divided into 2 groups: those who had and those who had not undergone a screening process for CHD in the neonatal period. Clinical and demographic characteristics were collected for further statistical analysis.Results. A total of 653 children and teenagers were treated in the virtual outpatient clinics. From these, 229 had undergone a neonatal screening process. Fewer abnormalities were observed on the physical examination of the screened patients.Conclusion. The implementation of pediatric cardiology virtual outpatient clinics can have a positive impact in the care provided to people in areas with lack of skilled professionals.

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Genetic testing for pulmonary stenosis

The EuroBiotech Journal ◽

10.2478/ebtj-2018-0039 ◽

2018 ◽

Vol 2 (s1) ◽

pp. 58-60

Author(s):

Yeltay Rakhmanov ◽

Paolo Enrico Maltese ◽

Carla Marinelli ◽

Tommaso Beccari ◽

Munis Dundar ◽

...

Keyword(s):

Congenital Heart ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Pulmonary Valve ◽

Heart Defects ◽

Pulmonary Stenosis ◽

Autosomal Recessive Inheritance ◽

Live Births ◽

Gene Test ◽

Pulmonary Arterial

Abstract Pulmonary stenosis (PS) is a congenital pulmonary valve malformation. It can be classified as valvular, subvalvular or supravalvular. Isolated forms of PS are rare. PS is associated with the development of massive pulmonary arterial dilatation. Patients with PS have a high consanguinity rate and the disorder is highly familial, which is why knowing the genetic aetiology of this defect is important. Prevalence is estimated at about 4/10,000 live births, and incidence at about 10% of all children with congenital heart defects. PS has prevalently autosomal dominant and rarely autosomal recessive inheritance. 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.

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Genetic testing for Ebstein anomaly

The EuroBiotech Journal ◽

10.2478/ebtj-2018-0038 ◽

2018 ◽

Vol 2 (s1) ◽

pp. 55-57

Author(s):

Yeltay Rakhmanov ◽

Paolo Enrico Maltese ◽

Alice Bruson ◽

Tommaso Beccari ◽

Munis Dundar ◽

...

Keyword(s):

Risk Assessment ◽

Congenital Heart ◽

Autosomal Dominant ◽

Heart Defects ◽

The Other ◽

Dominant Inheritance ◽

Ebstein Anomaly ◽

Live Births ◽

Downward Displacement ◽

Gene Test

Abstract Ebstein anomaly (EA) is a rare congenital tricuspid valve malformation, characterized by downward displacement of the septal leaflet and an atrialized right ventricle. About 80% of cases of EA are non-syndromic; in the other 20%, the anomaly is associated with a chromosomal or Mendelian syndrome. The prevalence of EA is estimated at about 1 per 20,000 live births, and accounts for less than 1% of all congenital heart defects. EA has autosomal dominant inheritance. Likely causative genes are: NKX2-5, MYH7 and TPM1. 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, potential risk assessment and access to clinical trials.

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

Archives of Disease in Childhood ◽

10.1136/archdischild-2017-312621 ◽

2017 ◽

Vol 103 (1) ◽

pp. 57-60 ◽

Cited By ~ 1

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.

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