scholarly journals Epigenetics and Mechanobiology in Heart Development and Congenital Heart Disease

Diseases ◽  
2019 ◽  
Vol 7 (3) ◽  
pp. 52 ◽  
Author(s):  
Jarrell ◽  
Lennon ◽  
Jacot
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Heart Development ◽  
Congenital Heart ◽  
Normal Development ◽  
Heart Defects ◽  
The United States ◽  
Complex Interactions ◽  
Epigenetic Biomarkers ◽  
Multiple Cell

: Congenital heart disease (CHD) is the most common birth defect worldwide and the number one killer of live-born infants in the United States. Heart development occurs early in embryogenesis and involves complex interactions between multiple cell populations, limiting the understanding and consequent treatment of CHD. Furthermore, genome sequencing has largely failed to predict or yield therapeutics for CHD. In addition to the underlying genome, epigenetics and mechanobiology both drive heart development. A growing body of evidence implicates the aberrant regulation of these two extra-genomic systems in the pathogenesis of CHD. In this review, we describe the stages of human heart development and the heart defects known to manifest at each stage. Next, we discuss the distinct and overlapping roles of epigenetics and mechanobiology in normal development and in the pathogenesis of CHD. Finally, we highlight recent advances in the identification of novel epigenetic biomarkers and environmental risk factors that may be useful for improved diagnosis and further elucidation of CHD etiology.

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.

Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology

2014 ◽  
Vol 25 (4) ◽  
pp. 705-711 ◽  
Author(s):  
Neslihan Abaci ◽  
Muzaffer Arıkan ◽  
Türkan Tansel ◽  
Nazlı Sahin ◽  
Aris Cakiris ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Next Generation Sequencing ◽  
Nucleic Acid ◽  
Heart Development ◽  
Congenital Heart ◽  
Heart Defects ◽  
Next Generation ◽  
Oxidative Energy Metabolism ◽  
Generation Sequencing

AbstractIt has been shown that mitochondrial deoxyribo nucleic acid mutations may play an important role in the development of cardiomyopathy, and various types of cardiomyopathy can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies have described many mutations in mitochondrial genes encoding for subunits of respiratory chain complexes. Thus, recent studies confirm that pathologic mitochondrial deoxyribo nucleic acid mutations are a major reason of diseases and determining them by next-generation sequencing will improve our understanding of dysregulation of heart development. To analyse mitochondrial deoxyribo nucleic acid mutations, the entire mitochondrial deoxyribo nucleic acid was amplified in two overlapping polymerase chain reaction fragments from the cardiac tissue of the 22 patients with congenital heart disease, undergoing cardiac surgery. Mitochondrial deoxyribo nucleic acid was deep sequenced by next-generation sequencing. A total of 13 novel mitochondrial deoxyribo nucleic acid mutations were identified in nine patients. Of the patients, three have novel mutations together with reported cardiomyopathy mutations. In all, 65 mutations were found, and 13 of them were unreported. This study represents the most comprehensive mitochondrial deoxyribo nucleic acid mutational analysis in patients with congenital heart disease.

A retrospective analysis of a pediatric tele-echocardiography service to treat, triage, and reduce trans-Pacific transport

2017 ◽  
Vol 24 (3) ◽  
pp. 224-229 ◽  
Author(s):  
Christopher A Rouse ◽  
Brandon T Woods ◽  
C Becket Mahnke
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Ductus Arteriosus ◽  
Tertiary Care ◽  
The United States ◽  
Critical Congenital Heart Disease ◽  
Medical Centers ◽  
Prompt Diagnosis ◽  
Patent Ductus

Introduction Tele-echocardiography can ensure prompt diagnosis and prevent the unnecessary transport of infants without critical congenital heart disease, particularly at isolated locations lacking access to tertiary care medical centers. Methods We retrospectively reviewed all infants who underwent tele-echocardiography at a remote 16-bed level IIIB NICU from June 2005 to March 2014. Tele-echocardiograms were completed by cardiac sonographers in Okinawa, Japan, and transmitted asynchronously for review by pediatric cardiologists in Hawaii. Results During the study period 100 infants received 192 tele-echocardiograms: 46% of infants had tele-echocardiograms completed for suspected patent ductus arteriosus, 28% for suspected congenital heart disease, 12% for possible congenital heart disease in the setting of likely pulmonary hypertension, and 10% for possible congenital heart disease in the setting of other congenital anomalies. Of these, 17 patients were aeromedically evacuated for cardiac reasons; 12 patients were transported to Hawaii, while five patients with complex heart disease were transported directly to the United States mainland for interventional cardiac capabilities not available in Hawaii. Discussion This study demonstrates the use of tele-echocardiography to guide treatment, reduce long and potentially risky trans-Pacific transports, and triage transports to destination centers with the most appropriate cardiac capabilities.

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.

Abstract 4680: Rapid Growth in Hospitalizations for Adults with Congenital Heart Disease in the United States

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Alexander R Opotowsky ◽  
Omar Siddiqi ◽  
Gary D Webb
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Complex Disease ◽  
The United States ◽  
Hospital Charges ◽  
Pediatric Care ◽  
Annual Number ◽  
Diagnostic Code ◽  
The Cost

Background: Adults with congenital heart disease (ACHD) constitute a growing population due to advances in pediatric care and diagnostic testing. This study aimed to better define the growth in ACHD hospitalizations and to provide data on the cost of hospitalization for these patients. Methods: We utilized data from the 1998 –2005 Nationwide Inpatient Survey, the largest all-payer nationally representative hospital discharge database, to analyze trends in ACHD hospitalizations. We included all patients over 17 years of age with Clinical Classification Software diagnostic code 213 (Cardiac and Circulatory Anomalies). National estimates of hospitalizations and hospital charges by year for ACHD diagnoses were calculated, as were equivalent estimates for specific subsets of patients. Results: The number of ACHD hospitalizations increased 67% between 1998 and 2005, from 53,212 to 88,610 per year. Over this period, the annual number of admissions increased for both simple (44,781 to 75,911) and complex diagnoses (8,431 to 12,699)(Table ). Patients 55 years or older made up approximately 51% of all ACHD patients, and 40% of those with complex disease. Rates of hospitalization increased similarly for patients under and over 55 years old among all diagnostic categories. Inpatient mortality decreased from 2.6+/−0.2% to 1.7+/−0.1% for simple diagnoses, and 4.4+/−0.5% to 3.7+/−0.4% for complex diagnoses. Mean hospital charges per hospitalization increased 66% from $21,485 to $35,565, and the estimated total national charges for these hospitalizations increased from $1.1 billion to $3.1 billion in 2005 (all in 1998 dollars). In 1998, admissions for ACHD accounted for 0.31% of estimated total national charges for hospitalizations of patients 18 years or older, as compared with 0.47% in 2005. Conclusions: There has been a striking increase in hospitalizations for ACHD, and the cost of these admissions is rising out of proportion to overall hospital costs. Number of Adult Congenital Heart Disease Admissions per Year

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