Congenital heart disease and inherited cardiac disorders

2014 ◽  
pp. 273-290
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Structure ◽  
Inherited Disorders ◽  
Wide Range ◽  
Cardiac Disorders ◽  
First Time

‘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

Congenital heart disease and inherited cardiac conditions

2020 ◽  
pp. 309-332
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Smooth Transition ◽  
Cardiac Structure ◽  
Inherited Disorders ◽  
Adult Services ◽  
Wide Range ◽  
Inherited Cardiac Conditions ◽  
First Time

‘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.

scholarly journals Discontinuity of Cardiac Follow‐Up in Young People With Congenital Heart Disease Transitioning to Adulthood: A Systematic Review and Meta‐Analysis

2021 ◽  
Author(s):  
Philip Moons ◽  
Sandra Skogby ◽  
Ewa‐Lena Bratt ◽  
Liesl Zühlke ◽  
Ariane Marelli ◽  
...  
Keyword(s):  
United States ◽  
Systematic Review ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis ◽  
Transition Programs ◽  
The United States

Background The majority of people born with congenital heart disease require lifelong cardiac follow‐up. However, discontinuity of care is a recognized problem and appears to increase around the transition to adulthood. We performed a systematic review and meta‐analysis to estimate the proportion of adolescents and emerging adults with congenital heart disease discontinuing cardiac follow‐up. In pooled data, we investigated regional differences, disparities by disease complexity, and the impact of transition programs on the discontinuity of care. Methods and Results Searches were performed in PubMed, Embase, Cinahl, and Web of Science. We identified 17 studies, which enrolled 6847 patients. A random effects meta‐analysis of single proportions was performed according to the DerSimonian‐Laird method. Moderator effects were computed to explore sources for heterogeneity. Discontinuity proportions ranged from 3.6% to 62.7%, with a pooled estimated proportion of 26.1% (95% CI, 19.2%–34.6%). A trend toward more discontinuity was observed in simple heart defects (33.7%; 95% CI, 15.6%–58.3%), compared with moderate (25.7%; 95% CI, 15.2%–40.1%) or complex congenital heart disease (22.3%; 95% CI, 16.5%–29.4%) ( P =0.2372). Studies from the United States (34.0%; 95% CI, 24.3%–45.4%), Canada (25.7%; 95% CI, 17.0%–36.7%), and Europe (6.5%; 95% CI, 5.3%–7.9%) differed significantly ( P =0.0004). Transition programs were shown to have the potential to reduce discontinuity of care (12.7%; 95% CI, 2.8%–42.3%) compared with usual care (36.2%; 95% CI, 22.8%–52.2%) ( P =0.1119). Conclusions This meta‐analysis showed that there is a high proportion of discontinuity of care in young people with congenital heart disease. The highest discontinuity proportions were observed in studies from the United States and in patients with simple heart defects. It is suggested that transition programs have a protective effect. Registration URL: www.crd.york.ac.uk/prospero . Unique identifier: CRD42020182413.

scholarly journals FISH spots microdeletion in heart defects

2009 ◽  
Vol 15 (S3) ◽  
pp. 5-6
Author(s):  
P. Ferraz-Gameiro ◽  
J. Ferrão ◽  
C. Mendes ◽  
L. M. Pires ◽  
E. Matoso ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
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.

scholarly journals Optimizing Care for Adults with Congenital Heart Disease: Results of a Conjoint Analysis Based on a Nationwide Sample of Patients Included in the German National Register

2021 ◽  
Vol 10 (16) ◽  
pp. 3483
Author(s):  
Astrid E. Lammers ◽  
Paul C. Helm ◽  
Ulrike M. Bauer ◽  
Ann-Kathrin van Huelsen ◽  
Helmut Schneider ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Conjoint Analysis ◽  
Congenital Heart ◽  
Heart Defects ◽  
Significant Heterogeneity ◽  
Relative Importance ◽  
National Register ◽  
Specialized Care

(1) Background: Congenital heart disease (CHD) requires lifelong specialized care. Failure to follow up and gaps in care are common in this group and lead to increased morbidity/mortality. We evaluated patients’ perceived needs and expectations regarding specialized care using state-of-the-art statistical and market research techniques based on a nationwide sample of CHD patients. (2) Methods: A random sample of adults with CHD registered in the German National Register for Congenital Heart Defects were invited to answer an adaptive online questionnaire based on the conjoint analysis (CA) technique. CA determines the relative importance of various aspects of health care provision and allows individuals to trade between characteristics, thus recognizing limited resources. (3) Results: 637 patients participated (mean age 33.8 ± 12.6 years; 55.6% female; disease complexity: simple defect 12.6%, moderate complexity 40.3%, complex CHD 40.2%) in the analysis. Patients assigned the highest relative importance to aspects of patient–physician communication, physician qualifications, waiting time, medical care, and medical equipment. Comfort-related aspects such as driving time or hotel aspects of care received much lower scores. We identified four well-defined clusters of patients with differing expectation patterns: (i) time sensitive patients; (ii) excellence seeking patients; (iii) continuity seekers, and (iv) support seeking patients. (4) Conclusions: Adult CHD patients rank effective patient–physician interaction and communication as the most important factors. As we identified significant heterogeneity between CHD patients, centers should cater for individual preferences and integrate individual needs into treatment plans to prevent failure to follow up and ensure patient compliance.

scholarly journals Social-psychological characteristics of children after radical correction of congenital heart disease

2020 ◽  
Vol 35 (3) ◽  
pp. 59-66
Author(s):  
A. A. Anikeenko ◽  
L. N. Igisheva ◽  
Ya. V. Danilchenko ◽  
T. V. Avdushkina
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Psychological Characteristics ◽  
Long Term Results ◽  
Economic Factors ◽  
Life Questionnaire

Studying the long-term results of surgical correction of CHD in children is an urgent problem in the modern world, since there are currently no uniform criteria for assessing the long-term results of this type of intervention.Objective. To study the social and psychological characteristics of children with congenital heart disease after surgery to predict possible risks of adaptation disorders in the long term period.Material and Methods. Social and emotional functioning of 116 children with congenital heart disease after surgical treatment was assessed using the Pediatric Quality of Life Questionnaire PEDsQL4.0. Children were divided into two groups: children from families with (group 1) and without unfavorable social and economic factors (group 2).Results and Discussion. Lower indicators of health were observed in group of children with familial history of various unfavorable social and economic factors as well as in children with more complicated defects and comorbidities during threeyear follow-up.Conclusion. Integrated dynamic differentiated observation is essential during the follow-up of patients with congenital heart defects. While creating a rehabilitation program, it is necessary to take into account all components of health, including the psychosocial functioning of the child, and to implement a personalized approach to rehabilitation on this basis.

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 Down syndrome and congenital heart disease: perioperative planning and management

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Dennis R. Delany ◽  
Stephanie S. Gaydos ◽  
Deborah A. Romeo ◽  
Heather T. Henderson ◽  
Kristi L. Fogg ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Single Ventricle ◽  
Heart Defects ◽  
Careful Consideration ◽  
Children With Down Syndrome ◽  
Perioperative Planning

AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.

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.

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