Congenital heart disease and inherited cardiac conditions

Heart Disease ◽

Congenital Heart ◽

Smooth Transition ◽

Cardiac Structure ◽

Inherited Disorders ◽

Adult Services ◽

Wide Range ◽

Inherited Cardiac Conditions ◽

‘Congenital heart disease’ is a term used to cover a wide range of cardiac conditions that result from an abnormality of cardiac structure or function present at birth. The majority of children with congenital heart disease are managed in specialist paediatric centres. Not all will require further treatment as they grow older, but if they do the importance of a smooth transition to adult services is important. Some patients will be cared for in specialist units that cater for adults with congenital heart disease (ACHD), whereas others may not. Most cardiac nurses working in the cardiac arena can be expected to care for adult patients with congenital heart disease at some time in their career. They might also care for patients who present for the first time in adulthood with inherited disorders that have significant cardiovascular problems. The focus of this chapter is to highlight some of the issues that ACHD patients might present with in cardiac areas that do not specialize in ACHD.

Congenital heart disease and inherited cardiac disorders

Oxford Handbook of Cardiac Nursing ◽

10.1093/med/9780199651344.003.0014 ◽

2014 ◽

pp. 273-290

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Heart Defects ◽

Cardiac Structure ◽

Inherited Disorders ◽

Wide Range ◽

Cardiac Disorders ◽

‘Congenital heart disease’ is a term used to cover a wide range of cardiac conditions that result from an abnormality of cardiac structure or function present at birth. Most conditions are a result of the heart, its valves, or its vessels not being properly formed. Some congenital heart defects are diagnosed in utero or soon after birth, whereas others might not be noted until later in life when symptoms become troublesome. Defects can be simple (requiring little or no intervention), moderate (requiring episodic intervention), or complex (with serious outcomes that require lifelong treatment and follow-up). The majority of children with congenital heart disease are managed in specialist paediatric centres, and as more children with congenital heart disease survive into adulthood, services that cater for adults with congenital heart disease (ACHD) have been developed. Most cardiac nurses working in the cardiac arena can be expected to care for adult patients with congenital heart disease at some time in their career. They might also care for patients who present for the first time in adulthood with inherited disorders that have significant cardiovascular problems. The focus of this chapter is to highlight some of the issues that ACHD patients might present with in cardiac areas that do not specialize in ACHD

Environmental Risk Factors and Congenital Heart Disease: An Umbrella Review of 165 Systematic Reviews and Meta-Analyses With More Than 120 Million Participants

Frontiers in Cardiovascular Medicine ◽

10.3389/fcvm.2021.640729 ◽

2021 ◽

Vol 8 ◽

Author(s):

Tie-Ning Zhang ◽

Qi-Jun Wu ◽

Ya-Shu Liu ◽

Jia-Le Lv ◽

Hui Sun ◽

...

Keyword(s):

Risk Factors ◽

Heart Disease ◽

Environmental Factors ◽

Congenital Heart ◽

Prediction Intervals ◽

Umbrella Review ◽

Wide Range ◽

Null Value ◽

Meta Analyses

Background: The etiology of congenital heart disease (CHD) has been extensively studied in the past decades. Therefore, it is critical to clarify clear hierarchies of evidence between types of environmental factors and CHD.Methods: Electronic searches in PubMed, Embase, Web of Science, Cochrane database were conducted from inception to April 20, 2020 for meta-analyses investigating the aforementioned topic.Results: Overall, 41 studies including a total of 165 meta-analyses of different environmental factors and CHD were examined, covering a wide range of risk factors. The summary random effects estimates were significant at P < 0.05 in 63 meta-analyses (38%), and 15 associations (9%) were significant at P < 10−6. Of these meta-analyses, eventually one risk factor (severe obesity; relative risk: 1.38, 95% confidence interval: 1.30–1.47) had significant summary associations at P < 10−6, included more than 1,000 cases, had 95% prediction intervals excluding the null value, and were not suggestive of large heterogeneity (I2 < 50%), small-study effects (P-value for Egger's test > 0.10), or excess significance (P > 0.10). Eight associations (5%) (including maternal lithium exposure, maternal obesity, maternal alcohol consumption, and maternal fever) had results that were significant at P < 10−6, included more than 1,000 cases, and had 95% prediction intervals excluding the null value (highly suggestive).Conclusion: This umbrella review shows that many environmental factors have substantial evidence in relation to the risk of developing CHD. More and better-designed studies are needed to establish robust evidence between environmental factors and CHD.Systematic Review Registration: [PROSPERO], identifier [CRD42020193381].

Adult congenital heart disease

10.1093/med/9780198726012.003.0061 ◽

2016 ◽

Author(s):

Giovanni Di Salvo ◽

Werner Budts ◽

Owen I. Miller

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Low Cost ◽

Adult Congenital Heart Disease ◽

Surgical Techniques ◽

Adult Congenital ◽

First Time ◽

Established Role ◽

Typical Scenario

Echocardiography has a well-established role in the assessment of adults with congenital heart disease. It provides accurate anatomical and functional information and is a bedside, low-cost, and easily repeatable technique. Although some lesions may be diagnosed for the first time in adulthood or may not need a surgical repair, in most cases the typical scenario is to evaluate an adult patient with a known congenital heart disease who has already undergone one (or more) previous surgical or catheter interventions, often during childhood. This chapter provides the basic anatomical concepts for the most frequent diseases, together with a brief presentation of the most used surgical techniques and the haemodynamic patterns seen after these corrections. However, the chapter is only an overview due to the variety of congenital heart disease and the complexity of its imaging.

An Unexpected Case of Isolated Left Ventricular Apical Hypoplasia in an Asymptomatic Patient

International Cardiovascular Forum Journal ◽

10.17987/icfj.v20i0.675 ◽

2020 ◽

Vol 20 ◽

Author(s):

Rachel Anne Xuereb ◽

Sara Xuereb ◽

Tiziana Felice ◽

Mariosa Xuereb ◽

Alex Borg

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Asymptomatic Patient ◽

Left Ventricular ◽

Rare Type ◽

Electrocardiogram Ecg ◽

Isolated left ventricular (LV) apical hypoplasia is a rare type of congenital heart disease. It is often asymptomatic in childhood but may lead to complications later on in life. The proposed mechanism is inadequate LV dilatation during development of the primitive ventricle, resulting in a spherical LV. To our knowledge, we describe for the first time a case of isolated LV apical hypoplasia in an asymptomatic patient, diagnosed on investigation of an abnormal 12-lead resting electrocardiogram (ECG).

FISH spots microdeletion in heart defects

Microscopy and Microanalysis ◽

10.1017/s1431927609990481 ◽

2009 ◽

Vol 15 (S3) ◽

pp. 5-6

Author(s):

P. Ferraz-Gameiro ◽

J. Ferrão ◽

C. Mendes ◽

L. M. Pires ◽

E. Matoso ◽

...

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

De Novo ◽

Heart Defects ◽

Autosomal Dominant Trait ◽

Conotruncal Malformations ◽

Wide Range ◽

22Q11.2 Microdeletion ◽

Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

CHDbase: A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations

10.1101/2022.01.06.475217 ◽

2022 ◽

Author(s):

Wei-Zhen Zhou ◽

Wenke Li ◽

Huayan Shen ◽

Ruby W. Wang ◽

Wen Chen ◽

...

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Clinical Manifestations ◽

Interaction Network ◽

Gene Interaction ◽

Gene Interaction Network ◽

Phenotype Classification ◽

Wide Range ◽

Genetic Landscape

Congenital heart disease (CHD) is the most common cause of major birth defects, with a prevalence of 1%. Although an increasing number of studies reporting the etiology of CHD, the findings scattered throughout the literature are difficult to retrieve and utilize in research and clinical practice. We therefore developed CHDbase, an evidence-based knowledgebase with CHD-related genes and clinical manifestations manually curated from 1114 publications, linking 1124 susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes. Metadata such as the information of each publication and the selected population and samples, the strategy of studies, and the major findings of study were integrated with each item of research record. We also integrated functional annotations through parsing ~50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity. We further prioritized the significance of these CHD-related genes with a gene interaction network approach, and extracted a core CHD sub-network with 163 genes. The clear genetic landscape of CHD enables the phenotype classification based on the shared genetic origin. Overall, CHDbase provides a comprehensive and freely available resource to study CHD susceptibility, supporting a wide range of users in the scientific and medical communities. CHDbase is accessible at http://chddb.fwgenetics.org/.

Surgical Implications of Coronary Arterial Anatomy in Adults with Congenital Cardiac Disease

The Open Cardiovascular Medicine Journal ◽

10.2174/1874192400802010049 ◽

2008 ◽

Vol 2 (1) ◽

pp. 49-51

Author(s):

Ad J.J.C Bogers ◽

Ismael Eralp ◽

A. Pieter Kappetein

Keyword(s):

Heart Disease ◽

Cardiac Disease ◽

Congenital Heart ◽

Arterial System ◽

Surgical Reconstruction ◽

Cardiac Structure ◽

Congenital Cardiac Disease ◽

Adult Congenital ◽

Arterial Anatomy

In adults with congenital heart disease coronary arterial anatomy, normal as well as anomalous, may have implications in surgical reconstruction of an underlying cardiac structure. In addition to the diagnostic imaging, necessary in surgery for adult congenital heart disease, additional information with regard to the spatial relation between the relevant cardiac structure and the coronary arterial system may be required for planning the operation and providing a good outcome. The congenital cardiac surgeon should have the necessary skills in coronary artery bypass techniques. With lack of adequate data, the estimation of mortality due to complications as a result of coronary damage in surgery for adult congenital cardiac disease of below 1% seems fair.

Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review

BMC Cardiovascular Disorders ◽

10.1186/s12872-020-01781-x ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Yingjuan Liu ◽

Sen Chen ◽

Liesl Zühlke ◽

Sonya V. Babu-Narayan ◽

Graeme C. Black ◽

...

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Meta Analysis ◽

School Age Children ◽

School Age ◽

Lower Income ◽

Septal Defects ◽

Lower Income Countries ◽

Abstract Background Congenital heart disease (CHD) is the commonest birth defect. Studies estimating the prevalence of CHD in school-age children could therefore contribute to quantifying unmet health needs for diagnosis and treatment, particularly in lower-income countries. Data at school age are considerably sparser, and individual studies have generally been of small size. We conducted a literature-based meta-analysis to investigate global trends over a 40-year period. Methods and results Studies reporting on CHD prevalence in school-age children (4–18 years old) from 1970 to 2017 were identified from PubMed, EMBASE, Web of Science and Google Scholar. According to the inclusion criteria, 42 studies including 2,638,475 children, reporting the prevalence of unrepaired CHDs (both pre-school diagnoses and first-time school-age diagnoses), and nine studies including 395,571 children, specifically reporting the prevalence of CHD first diagnosed at school ages, were included. Data were combined using random-effects models. The prevalence of unrepaired CHD in school children during the entire period of study was 3.809 (95% confidence intervals 3.075–4.621)/1000. A lower proportion of male than female school children had unrepaired CHD (OR = 0.84 [95% CI 0.74–0.95]; p = 0.001). Between 1970–1974 and 1995–1999, there was no significant change in the prevalence of unrepaired CHD at school age; subsequently there was an approximately 2.5-fold increase from 1.985 (95% CI 1.074–3.173)/1000 in 1995–1999 to 4.832 (95% CI 3.425–6.480)/1000 in 2010–2014, (p = 0.009). Among all CHD conditions, atrial septal defects and ventricular septal defects chiefly accounted for this increasing trend. The summarised prevalence (1970–2017) of CHD diagnoses first made in childhood was 1.384 (0.955, 1.891)/1000; during this time there was a fall from 2.050 [1.362, 2.877]/1000 pre-1995 to 0.848 [0.626, 1.104]/1000 in 1995–2014 (p = 0.04). Conclusions Globally, these data show an increased prevalence of CHD (mainly mild CHD conditions) recognised at birth/infancy or early childhood, but remaining unrepaired at school-age. In parallel there has been a decrease of first-time CHD diagnoses in school-age children. These together imply a favourable shift of CHD recognition time to earlier in the life course. Despite this, substantial inequalities between higher and lower income countries remain. Increased healthcare resources for people born with CHD, particularly in poorer countries, are required.

The Adaptation of Parents to the Birth of an Infant With a Congenital Malformation: A Hypothetical Model

PEDIATRICS ◽

10.1542/peds.56.5.710 ◽

1975 ◽

Vol 56 (5) ◽

pp. 710-717 ◽

Cited By ~ 1

Author(s):

Dennis Drotar ◽

Ann Baskiewicz ◽

Nancy Irvin ◽

John Kennell ◽

Marshall Klaus

Keyword(s):

Heart Disease ◽

Cleft Palate ◽

Congenital Malformation ◽

Parental Attachment ◽

Congenital Heart ◽

Structured Interviews ◽

Hypothetical Model ◽

Parental Reactions ◽

Wide Range

To determine the course of parental reactions to the birth of a child with a congenital malformation and the process of parental attachment, the parents of 20 children with a wide range of malformations including mongolism, congenital heart disease, and cleft palate were interviewed. Structured interviews took place 7 days to 60 months after birth. Despite the wide variation of malformation, analysis of the interviews demonstrated five stages of parental reactions—shock, denial, sadness and anger, adaptation, and reorganization—in dealing with a congenitally malformed child during the course of his development and care. Observations of these patients suggest that early crisis counseling in the first months of life may be particularly crucial in parental attachment and adjustment.

The athlete with congenital heart disease

The ESC Textbook of Sports Cardiology ◽

10.1093/med/9780198779742.003.0028 ◽

2019 ◽

pp. 238-250

Author(s):

Guido E. Pieles ◽

Graham Stuart

Keyword(s):

Heart Disease ◽

Congenital Heart ◽

Assessment Tools ◽

Recommended Care ◽

Specific Advice ◽

Number Of Patients ◽

Wide Range ◽

Functional Exercise ◽

Sports And Exercise

An increasing number of patients with congenital heart disease (CHD) are participating in regular sport at levels ranging from gentle recreational activities to elite professional sport. In general, children and adults with CHD should be encouraged to engage in regular physical activity, but long-term complications, such as heart failure, arrhythmias, and the need for re-operation, can occur. The sports cardiologist must be alert to the presence of underlying CHD, as physiology, haemodynamics, and functional status can change with time even after correction or palliation and intervention may be necessary before the onset of major symptoms. Although consensus management guidelines for adults with CHD are available, there is very little lesion-specific advice on sports and exercise. The wide range of diagnoses and pathophysiology make regular and individualized assessment essential. Assessment tools include ECG, echocardiogram, and CMR, but regular comprehensive functional exercise assessment is recommended. Care of the athlete with CHD should be coordinated in close collaboration with congenital heart specialists.