The mendelian basis of congenital heart defects

1996 ◽  
Vol 6 (4) ◽  
pp. 264-271 ◽  
Author(s):  
Bruno Dallapiccola ◽  
Bruno Marino ◽  
Maria Cristina Digilio ◽  
Rita Mingarelli ◽  
Giuseppe Novelli ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Defects ◽  
Single Gene ◽  
Cardiovascular Development ◽  
Cardiac Defects ◽  
Congenital Heart Malformations ◽  
Molecular Studies ◽  
Gene Defects ◽  
Chromosomal Map

AbstractThe revolution in molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Recent investigations have shown that a growing number of congenital heart malformations is due to single gene defects. The combined contribution of clinical and molecular studies is providing the chromosomal map of the genes related to these isolated cardiac defects, and to syndromes characteristically associated with specific cardiac malformations. These advances are relevant to clinical practice, since the accumulated knowledge can improve the quality of management of affected patients.

scholarly journals A National Comparative Investigation of Twins With Congenital Heart Defects for Neurodevelopmental Outcomes and Quality of Life (Same Same, but Different?): Protocol for a Prospective Observational Study (Preprint)

2020 ◽  
Author(s):  
Julia Remmele ◽  
Paul Christian Helm ◽  
Renate Oberhoffer-Fritz ◽  
Ulrike MM Bauer ◽  
Thomas Pickardt ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Confounding Factors ◽  
Fourth Edition ◽  
Neurodevelopmental Outcomes ◽  
Motor Competence ◽  
Intelligence Scale

BACKGROUND Due to the increased survival rates of patients with congenital heart defects (CHD), associated disorders are an increasing focus of research. Existing studies figured out an association between CHD and its treatment, and neurodevelopmental outcomes including motor competence impairments. All these studies, however, compared their test results with reference values or results of healthy control groups. This comparison is influenced by socioeconomic and genetic aspects, which do have a known impact on neurodevelopmental outcomes. OBJECTIVE This study protocol describes a setting that aims to find out the role of CHD and its treatments on neurodevelopmental outcomes, excluding socioeconomic and genetic aspects. Only a twin comparison provides the possibility to exclude these confounding factors. METHODS In a German-wide prospective cohort study, 129 twin siblings registered in the National Register for Congenital Heart Defects will undergo testing on cognitive function (Wechsler Intelligence Tests age-dependent: Wechsler Adult Intelligence Scale, fourth edition; Wechsler Intelligence Scale for Children, fifth edition; and Wechsler Preschool and Primary Scale of Intelligence, fourth edition) and motor competence (Movement Assessment Battery for Children, second edition). Additionally, the self-reported health-related quality of life (KINDL-R for children, Short Form 36 for adults) and the parent-reported strength and difficulties of the children (Strength and Difficulties Questionnaire, German version) will be assessed by standardized questionnaires. CHD data on the specific diagnosis, surgeries, transcatheter procedures, and additional medical information will be received from patient records. RESULTS The approval of the Medical Ethics Committee Charité Mitte was obtained in June 2018. After getting funded in April 2019, the first enrollment was in August 2019. The study is still ongoing until June 2022. Final results are expected in 2022. CONCLUSIONS This study protocol provides an overview of the study design’s technical details, offering an option to exclude confounding factors on neurodevelopmental outcomes in patients with CHD. This will enable a specific analysis focusing on CHD and clinical treatments to differentiate in terms of neurodevelopmental outcomes of patients with CHD compared to twin siblings with healthy hearts. Finally, we aim to clearly define what is important to prevent patients with CHD in terms of neurodevelopmental impairments to be able to develop targeted prevention strategies for patients with CHD. CLINICALTRIAL German Clinical Trials Register DRKS00021087; https://tinyurl.com/2rdw8w67 INTERNATIONAL REGISTERED REPORT DERR1-10.2196/26404

scholarly journals To the issue of the health comprehensive assessment of children who underwent surgical correction of congenital heart diseases

2020 ◽  
Vol 8 (4S) ◽  
pp. 42-50
Author(s):  
L. N. Igisheva ◽  
A. A. Anikeenko ◽  
S. A. Shmulevich ◽  
I. N. Sizova
Keyword(s):  
Quality Of Life ◽  
Postoperative Period ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Rehabilitation Program ◽  
Comprehensive Assessment ◽  
Surgical Correction ◽  
Long Time

Aim. To find out the problems in children health in long-time postoperative period after cardiosurgery using the comprehensive method for creating rehabilitation program.Methods. A prospective investigation of group of children was done before (n = 88) and in a year (n = 115), in 2 years (n = 90) and in 3 years (n = 58) after the surgical correction of congenital heart defects on the base of Kuzbass cardiological center. The anamnesis, clinical and hemodynamic aspects were studied as well as the postoperative period, residual problems after the correction, social status of the family and the comprehensive assessment was done in the both groups.Results. Before the correction the most part of children had low and very low levels of physical functioning, but there was a positive dynamic right after the surgery: the most part of children had high and middle levels (13% and 44% in a year), while the amount of children with low and very low data were reduced. Nevertheless, in 3 years after the surgery the amount of children with low and very low data was increased while the hemodynamic became better. Such tendency was mentioned with all aspects of the health.Conclusion. Despite of hemodynamic normalization the quality of life with all aspects still suffers. It predicts dangers in development and quality of life in general.

scholarly journals Quantifying blood flow dynamics during cardiac development: demystifying computational methods

2018 ◽  
Vol 373 (1759) ◽  
pp. 20170330 ◽  
Author(s):  
Katherine Courchaine ◽  
Sandra Rugonyi
Keyword(s):  
Blood Flow ◽  
Congenital Heart ◽  
Cardiac Development ◽  
Three Dimensional ◽  
Flow Dynamics ◽  
Cardiovascular Development ◽  
Flow Conditions ◽  
Congenital Heart Malformations ◽  
Blood Flow Dynamics ◽  
Altered Blood

Blood flow conditions (haemodynamics) are crucial for proper cardiovascular development. Indeed, blood flow induces biomechanical adaptations and mechanotransduction signalling that influence cardiovascular growth and development during embryonic stages and beyond. Altered blood flow conditions are a hallmark of congenital heart disease, and disrupted blood flow at early embryonic stages is known to lead to congenital heart malformations. In spite of this, many of the mechanisms by which blood flow mechanics affect cardiovascular development remain unknown. This is due in part to the challenges involved in quantifying blood flow dynamics and the forces exerted by blood flow on developing cardiovascular tissues. Recent technologies, however, have allowed precise measurement of blood flow parameters and cardiovascular geometry even at early embryonic stages. Combined with computational fluid dynamics techniques, it is possible to quantify haemodynamic parameters and their changes over development, which is a crucial step in the quest for understanding the role of mechanical cues on heart and vascular formation. This study summarizes some fundamental aspects of modelling blood flow dynamics, with a focus on three-dimensional modelling techniques, and discusses relevant studies that are revealing the details of blood flow and their influence on cardiovascular development. This article is part of the Theo Murphy meeting issue ‘Mechanics of development’.

Cardiovascular Disorders

2019 ◽  
pp. 309-326
Author(s):  
Lyla E. Hampton ◽  
Abigail C. Demianczyk ◽  
Casey Hoffman
Keyword(s):  
Quality Of Life ◽  
Birth Defects ◽  
Neurodevelopmental Disorders ◽  
Congenital Heart ◽  
Heart Defects ◽  
School Setting ◽  
The United States ◽  
Intervention Strategies ◽  
School Based

Congenital heart disease (CHD) is one of the most common birth defects in the United States, affecting approximately 1% of births per year, with most children surviving into adulthood. Despite improved survival, individuals with CHD remain at high risk for neurological, cognitive, and psychosocial challenges that affect quality of life across the lifespan and have specific implications for working with children with CHD in the school setting. This chapter describes several common complications of CHD, as well as acquired heart defects, that have implications for how children with the conditions present in the school setting. The chapter also provides information about common neurodevelopmental disorders associated with these medical conditions and the effects of the conditions on psychological adjustment and quality of life in children. Finally, the chapter concludes with a review of intervention strategies that school-based professionals may adopt when working with children with heart conditions.

Rehabilitation potential in the children after surgical correction of congenital heart defects in different age periods

10.12737/7238 ◽  
2014 ◽  
Vol 8 (1) ◽  
pp. 0-0
Author(s):  
Любчик ◽  
V. Lyubchik ◽  
Голубова ◽  
T. Golubova ◽  
Елисеева ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Defects ◽  
Heart Rhythm ◽  
The Body ◽  
Surgical Correction ◽  
Self Assessment ◽  
Sf 36 ◽  
Rehabilitation Potential

Comparative evaluation of rehabilitation potential in 20 girls at the sanatorium stage of rehabilitation after surgical correction of congenital heart disease in different age periods was carried out. Structural and functional diagnoses were specified to determine the level of rehabilitation potential. Identified violations were assessed as the loss or absence, reduction, addition or excess. Research methods included: clinical examination with determination of the level of physical development on the body mass index, functional orthostatic test, as-sessment of the estimated impact of blood volume and "double work", Doppler echocardiography, spectral analysis of heart rhythm, some indicators of emotional state on the differentiated self-assessment of functional status test and “quality of life” according to test SF-36. In children of the first group with early surgical correction regarding (under 2 years) significant changes in functionality were noted: higher initial rehabilitation potential and positive changes in central and peripheral hemodynamics, positive changes in the emotional sphere traced by the level of comfort, improved exercise tolerance under the influence of sanatorium rehabilitation. Preliminary observations suggest the possibility of compensation of impaired functions in children of the specified contingent during the sanatorium stage of rehabilitation is to improve their sano-genetic and psycho-physiological potential.

scholarly journals The incidence and diagnostics of congenital heart defects in Kaunas infant population during 1999–2005

Medicina ◽  
2008 ◽  
Vol 44 (2) ◽  
pp. 139
Author(s):  
Virginija Dulskienë ◽  
Vilija Malinauskienë ◽  
Ada Azaravièienë ◽  
Renata Kuèienë
Keyword(s):  
Birth Weight ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Epidemiological Methods ◽  
Normal Birth ◽  
Congenital Heart Malformations ◽  
Increased Risk ◽  
Heart Malformation ◽  
Heart Malformations

The objective of this study was to determinate the incidence and diagnostics of congenital heart defects in Kaunas infant population in 1999–2005 and to compare the data obtained with the data of years 1995–1998. Subject and methods. The study population comprised all newborns born in Kaunas city during 1999– 2005. Congenital heart defects were registered based on clinical diagnosis after its verification using the data from consulting centers and pediatric outpatient departments. To assess the incidence of congenital heart malformations in newborn population, we conducted a validated newborn register based on maternal residential district. Modern epidemiological methods were used for data analysis. Results. In 1999–2005, there were 24 069 live births in Kaunas: 2231 newborns were born with congenital anomalies, 198 had congenital heart malformations. The incidence of congenital heart defects was 8.2 per 1000 live newborns. The majority of congenital heart malformations were diagnosed in delivery units (93.94%). We have analyzed the relationship between birth weight and gestational age of newborns with congenital heart malformations. Newborns with low birth weight were at significantly higher risk of congenital heart malformation than newborns with normal birth weight (OR=3.52, 95% CI, 2.25–5.47). Our data also showed that newborns born before 32 weeks of gestation had a 5-fold increased risk of congenital heart malformation (OR=5.20; 95% CI, 2.50–10.84) and infants born before 37 weeks of gestation had a 4-fold increased risk (OR=4.08; 95% CI, 2.68–6.19) compared with newborns born after 37 weeks of gestation. Conclusions. This study shows that incidence of congenital heart anomalies in Kaunas newborn population was 8.2 cases per 1000 live newborns in 1999–2005. It was determined that during 1999–2005, the number of above-mentioned anomalies diagnosed in delivery units increased by 23%.

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