Structural diseases of the heart: genetics of congenital heart diseases

ESC CardioMed ◽  
2018 ◽  
pp. 716-719
Author(s):  
Daniela Q. C. M. Barge-Schaapveld ◽  
Marco C. DeRuiter ◽  
Conny C. van Munsteren ◽  
Monique R. M. Jongbloed
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Reproductive Age ◽  
Congenital Defects ◽  
Clinical Genetics ◽  
Incomplete Penetrance ◽  
Number Of Patients ◽  
The Impact ◽  
Practical Recommendations

Congenital heart defects are the most common congenital defects. As a substantial number of patients with congenital heart disease (CHD) now reach reproductive age, the cardiologist dealing with grown-up patients with CHD is confronted with questions from patients regarding the impact of their CHD on pregnancy and offspring, and genetic counselling is becoming more relevant to clinical practice. Developments in the field of clinical genetics do not always facilitate clinicians’ knowledge and reasoning. Interpretation of the often large DNA datasets is challenging, especially in the light of phenotypic heterogeneity and incomplete penetrance, and requires specific expertise. In this chapter, the genetics of CHD are addressed. An overview of ‘causative’ genes is provided, that is, genes with a high likelihood to be involved in the development of human CHD and found so far to harbour (likely) pathogenic mutations in patients. In addition, the challenges and limitations in determining such genes are addressed and pitfalls in interpreting DNA variants in these genes discussed. The fact that single genes may in some instances be associated with different forms of CHD, may be explained by the broad range of cellular contributions during embryology, which will be briefly addressed. Finally, practical recommendations in addressing the genetics of CHD are provided.

Genetics of CV diseases

ESC CardioMed ◽  
2018 ◽  
pp. 716-719
Author(s):  
Daniela Q.C.M. Barge-Schaapveld ◽  
Marco C. DeRuiter ◽  
Conny C. van Munsteren ◽  
Monique R.M. Jongbloed
Keyword(s):  
Congenital Heart ◽  
Heart Defects ◽  
Reproductive Age ◽  
Congenital Defects ◽  
Clinical Genetics ◽  
Incomplete Penetrance ◽  
High Likelihood ◽  
Number Of Patients ◽  
Practical Recommendations ◽  
Specific Expertise

Congenital heart defects (CHD) are the most common congenital defects. As a substantial number of patients with CHD now reach the reproductive age, the cardiologist dealing with grown up patients with CHD is confronted with questions of patients regarding impact of their CHD on pregnancy and offspring, and genetic counselling is becoming more relevant to clinical practice. Developments in the field of clinical genetics do not always facilitate the clinicians' knowledge and reasoning. Interpretation of the often-large DNA datasets is challenging, especially in the light of phenotypic heterogeneity and incomplete penetrance, and requires specific expertise. In this chapter the genetics of CHD are addressed. An overview of 'causative' genes is provided, i.e. genes with a high likelihood to be involved in the development of human CHD and found so far to harbour (likely) pathogenic mutations in patients. In addition, the challenges and limitations in determining such genes are addressed and pitfalls in interpreting DNA variants in these genes discussed. The fact that single genes may in some instances be associated with different forms of CHD, may be explained by the broad range of cellular contribution during embryology, which will be briefly addressed. Finally, practical recommendations in addressing the genetics of CHD are provided.

scholarly journals Congenitalis vitiumok genetikai heterogenitása és komplexitása

2018 ◽  
Vol 159 (17) ◽  
pp. 661-670
Author(s):  
Dóra Nagy ◽  
Márta Széll
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Isolated Heart ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Reproductive Age ◽  
Number Of Patients ◽  
Monogenic Diseases

Abstract: Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25–40%, isolated forms for 60–75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects. On the other hand, the genetic cause can be detected only in around 11% of isolated heart defects. The survival rate and life quality of patients with congenital heart defects have improved significantly in the last decades thanks to the remarkable development of prenatal, postnatal diagnostics as well as of heart and thoracic surgery of cardiovascular diseases. Since the number of patients, living into adulthood and reproductive age, is constantly increasing, the better understanding of the genetics of congenital heart defects may be crucial for the diagnosis, prognosis and positive family planning of patients. Orv Hetil. 2018; 159(17): 661–670.

scholarly journals Perspectives in the management of congenital heart defects in adult patients

2015 ◽  
Vol 156 (3) ◽  
pp. 92-97
Author(s):  
István Hartyánszky ◽  
Sándor Varga ◽  
Kálmán Havasi ◽  
Barna Babik ◽  
Márta Katona ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Adult Patients ◽  
Univentricular Heart ◽  
Transposition Of Great Arteries ◽  
Number Of Patients

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with “Fontan-circulation” type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy. Orv. Hetil., 2015, 156(3), 92–97.

scholarly journals Congenital heart diseases: A review of echocardiogram records

KYAMC Journal ◽  
2018 ◽  
Vol 9 (1) ◽  
pp. 35-38
Author(s):  
Md Saiful Islam ◽  
Md Moniruzzaman
Keyword(s):  
Blood Flow ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Congenital Defects ◽  
Intrauterine Development ◽  
Heart Defect ◽  
Great Vessels ◽  
Normal Blood Flow

Congenital heart defect (CHD) means an anatomic malformation of the heart or great vessels which occurs during intrauterine development, irrespective of the age at presentation. They can disrupt the normal blood flow through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Broadly congenital heart defects can be acyanotic and cyanotic. We have reviewed retrospectively from echocardiogram record nearly two years of period & collected total 404 patients with congenital heart defects. Among them 329 (81.43%) was acyanotic and 75 (18.57%) was cyanotic congenital defects with variety of diagnosis. Ventricular septal defect was the most common acyanotic heart defect and Tetralogy of Fallot was the most common cyanotic heart defect. There was no significant gender deference.KYAMC Journal Vol. 9, No.-1, April 2018, Page 35-38

scholarly journals The features of nutritional status in children with congenital heart disease

2019 ◽  
Vol 64 (5) ◽  
pp. 194-198
Author(s):  
D. I. Sadykova ◽  
Z. R. Khabibrakhmanova ◽  
A. R. Shakirova ◽  
L. Z. Safina
Keyword(s):  
Cardiac Surgery ◽  
Heart Disease ◽  
Nutritional Status ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
High Risk Group ◽  
Incidence And Mortality ◽  
The Impact

Malnutrition is a common problem in children with congenital heart defects, regardless of the type of defect and the presence / absence of cyanosis. Children born with heart defects form a high-risk group of nutritional deficiency. Surgical treatment of congenital heart defects is often accompanied by metabolic changes and increased needs of energy and protein. Correction of nutritional status in children with congenital heart diseases improves the condition of patients after cardiac surgery. The purpose of our study was to assess the nutritional status of children with congenital heart defects hospitalized to the cardiac surgery department, and to correct their enteral nutrition. The authors analyzed anthropometric data on the Z-score (weight – age) of children admitted to the department for examination and correction of heart disease. The authors concluded that there is need for further studies to assess the impact of changes in nutritional status on the incidence and mortality of patients with congenital heart defects and the possibility of optimal correction of nutritional status.

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

scholarly journals How do caregivers of children with congenital heart diseases access and navigate the healthcare system in Ethiopia?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sugy Choi ◽  
Heesu Shin ◽  
Jongho Heo ◽  
Etsegenet Gedlu ◽  
Berhanu Nega ◽  
...  
Keyword(s):  
Health Care ◽  
Cardiac Surgery ◽  
Health Care System ◽  
Low Income ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Care Facility ◽  
Long Distance ◽  
Care System

Abstract Background Surgery can correct congenital heart defects, but disease management in low- and middle-income countries can be challenging and complex due to a lack of referral system, financial resources, human resources, and infrastructure for surgical and post-operative care. This study investigates the experiences of caregivers of children with CHD accessing the health care system and pediatric cardiac surgery. Methods A qualitative study was conducted at a teaching hospital in Ethiopia. We conducted semi-structured interviews with 13 caregivers of 10 patients with CHD who underwent cardiac surgery. We additionally conducted chart reviews for triangulation and verification. Interviews were conducted in Amharic and then translated into English. Data were analyzed according to the principles of interpretive thematic analysis, informed by the candidacy framework. Results The following four observations emerged from the interviews: (a) most patients were diagnosed with CHD at birth if they were born at a health care facility, but for those born at home, CHD was discovered much later (b) many patients experienced misdiagnoses before seeking care at a large hospital, (c) after diagnosis, patients were waiting for the surgery for more than a year, (d) caregivers felt anxious and optimistic once they were able to schedule the surgical date. During the care-seeking journey, caregivers encountered financial constraints, struggled in a fragmented delivery system, and experienced poor service quality. Conclusions Delayed access to care was largely due to the lack of early CHD recognition and financial hardships, related to the inefficient and disorganized health care system. Fee waivers were available to assist low-income children in gaining access to health services or medications, but application information was not readily available. Indirect costs like long-distance travel contributed to this challenge. Overall, improvements must be made for district-level screening and the health care workforce.

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

scholarly journals Drosophila Heart as a Model for Cardiac Development and Diseases

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 3078
Author(s):  
Anissa Souidi ◽  
Krzysztof Jagla
Keyword(s):  
Cardiac Dysfunction ◽  
Congenital Heart ◽  
Cardiac Development ◽  
Heart Diseases ◽  
Heart Defects ◽  
Fruit Fly ◽  
Model System ◽  
Fast Imaging

The Drosophila heart, also referred to as the dorsal vessel, pumps the insect blood, the hemolymph. The bilateral heart primordia develop from the most dorsally located mesodermal cells, migrate coordinately, and fuse to form the cardiac tube. Though much simpler, the fruit fly heart displays several developmental and functional similarities to the vertebrate heart and, as we discuss here, represents an attractive model system for dissecting mechanisms of cardiac aging and heart failure and identifying genes causing congenital heart diseases. Fast imaging technologies allow for the characterization of heartbeat parameters in the adult fly and there is growing evidence that cardiac dysfunction in human diseases could be reproduced and analyzed in Drosophila, as discussed here for heart defects associated with the myotonic dystrophy type 1. Overall, the power of genetics and unsuspected conservation of genes and pathways puts Drosophila at the heart of fundamental and applied cardiac research.

scholarly journals Open heart surgery in Nigerian children the need for international and regional collaboration: the Balyesa and Enugu experience

2021 ◽  
Vol 6 (2) ◽  
pp. 044-047
Author(s):  
FA Ujunwa ◽  
AS Ujuanbi ◽  
JM Chinawa ◽  
D Alagoa ◽  
B Onwubere
Keyword(s):  
Success Rate ◽  
Congenital Heart ◽  
Heart Surgery ◽  
Heart Diseases ◽  
Heart Defects ◽  
Open Heart Surgery ◽  
Case Fatality ◽  
Open Heart ◽  
Cardiac Intervention ◽  
Regional Collaboration

Background: Children with congenital heart diseases (CHD) often require palliative or definitive surgical heart interventions to restore cardiopulmonary function. Lack of early cardiac intervention contributes to large numbers of potentially preventable deaths and sufferings among children with such conditions. Objectives: The aim of this study is to highlight our experience and the importance of international and regional collaboration in open heart surgery among children with CHD and capacity building of home cardiac teams in Bayelsa and Enugu States. Materials and Methods: In November 2016, a memorandum of understanding (MOU) was signed between the managements of FMC, Yenagoa, Bayelsa State, UNTH, Enugu and an Italian-based NGO- Pobic Open Heart International for collaboration in the area of free open-heart surgery for children with CHDs and training of home cardiac teams from both institutions either in Nigeria or in Italy. Patients for the program were recruited from Bayelsa and Enugu States with referrals from all over the country with combined screening and selection done in UNTH. Selected patients were operated on and funded free of charge by the Italian NGO. Hands-on training of the home cardiac teams and cardiac intervention was done twice yearly in Nigeria. Result: From inception of the program in November, 2016 to May, 2019 a total of 47 children (21 Males, 26 Females; Age range 6 months to 14 yrs) with various types of congenital heart defects have benefitted from the program with 41 surgeries done in UNTH & 6 in Italy (complex pathologies) at no cost to the recipients. Also, home cardiac teams from UNTH and FMC, Yenagoa have gained from on-site capacity training & retraining from the Italian cardiac team both in Nigeria & in Italy. The Success rate was 95.7% (44) and Case Fatality rate was 4.3% (2). Conclusion: There is a great efficacy in early cardiac intervention. This is with respect to a high success rate and minimal Case Fatality seen in this study. This was achieved through Regional and international collaboration.

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