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 POSTTRANSCRIPTIONAL REGULATION IN CONGENITAL HEART DISEASE: THE ROLE OF miRNA

2019 ◽  
Vol 8 (3) ◽  
pp. 85-95
Author(s):  
A. V. Ponasenko ◽  
A. V. Tsepokina
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Posttranscriptional Regulation ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Ecological Factors ◽  
Fetal Abnormality

Congenital heart disease is the most common fetal abnormality resulting in high pediatric disability and mortality. Congenital heart disease is a heterogeneous group of cardiac abnormalities including atrial septal defect, valvular defects and cardiac outflow tract anomalies. Genetic, epigenetic and ecological factors leading to the development of congenital heart defects in each particular case remain poorly understood. Nevertheless, multifactorial and polygenic mechanisms underlying the disease may be suggested. Moreover, advanced genetic technologies including single nucleotide polymorphism testing, copy number variation and next-generation sequencing ensure early detection of genetic causes of heart abnormalities. Recent studies suggested the contributing role of small non-coding RNA (miRNA) in the pathogenesis of congenital heart defects. miRNA is known to coordinate the development of heart and stimulate such pathological processes like fibrosis, hypertrophy and impaired angiogenesis. Thus, the study of miRNA and its impact on the pathogenesis of various heart diseases has demonstrated its promising potential for therapeutic targets in regenerative medicine. The review presents recent genetic findings, miRNA functions, signaling pathways and evidences on its role in the development of certain congenital heart defects.

scholarly journals Spectrum of congenital heart disease in neonates in a tertiary care centre of Northern India

2018 ◽  
Vol 5 (4) ◽  
pp. 1505
Author(s):  
Mahvish Qazi ◽  
Najmus Saqib
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Heart Diseases ◽  
Heart Defects ◽  
Tertiary Care ◽  
Mode Of Delivery ◽  
Tertiary Care Centre

Background: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. Not much of Indian data is available particularly from this part of the country. So, authors conduct a retrospective study to know the spectrum of congenital heart disease in our set up.Methods: A retrospective hospital based study was carried out in the neonatal intensive care unit of SMGS Hospital, Jammu from January 2017 until December 2017 to see the spectrum of CHD.Results: There were 5552 neonates admitted during the study period out of which 68 were found to have CHD. The prevalence was 12.24 per 1000 admitted neonates. Out of 68 admitted neonates, 41were males (60.3 %) and 27 females (39.7%). Clinically Respiratory distress (51.47%) was the commonest presenting symptom followed by Cyanosis (16.18%), refusal of feed (13.23%) and murmer (10.3%).46 (67.65%) newborn had acyanotic and 22 (32.35%) cyanotic congenital heart lesions. Ventricular septal defect (27.94%) was the commonest acyanotic congenital heart defects whereas Tetrology of Fallot (14.70%) was the commonest cyanotic congenital heart diseases. Cleft lip and Cleft Palate was found in 12.5% followed by Down’s syndrome in 3.57% of cases of newborns with CHD. The mode of delivery was spontaneous in 64.71% followed by Elective LSCS were 23.53% and Emergency LSCS were 11.76%.Conclusions: There is an urgent need for government and non‑government organizations to establish well‑equipped cardiothoracic surgical centers across the country especially in Jammu to cater for children with CHDs.

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.

Cause of death in adults with congenital heart disease — An analysis of the German National Register for Congenital Heart Defects

2016 ◽  
Vol 211 ◽  
pp. 31-36 ◽  
Author(s):  
Claudia C. Engelings ◽  
Paul C. Helm ◽  
Hashim Abdul-Khaliq ◽  
Boulos Asfour ◽  
Ulrike M.M. Bauer ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cause Of Death ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
National Register

scholarly journals Congenital heart disease and pregnancy

2019 ◽  
Vol 4 (3) ◽  
pp. 102-112
Author(s):  
E. V. Rudaeva ◽  
V. G. Mozes ◽  
V. V. Kashtalap ◽  
I. S. Zakharov ◽  
S. I. Yelgina ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Intrauterine Growth Restriction ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Defects ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Different Populations ◽  
European Society Of Cardiology

Annually, there > 30,000 infants are born with congenital heart defects; in different populations, the prevalence of congenital heart disease (CHD) varies from 2.4 to 14.15%. Women with CHD planning pregnancy are at increased risk of heart failure, arrhythmias, cerebrovascular disease, and embolism. In such patients, pregnancy course is complicated by intrauterine growth restriction, pre-eclampsia, and preterm birth. Their newborns generally have a low birth weight and high risk of congenital malformations including heart defects. European Society of Cardiology (ESC) developed risk assessment-based guidelines to optimise the management of pregnant women with CHD. This approach requires a cooperation of obstetrician-gynecologists, general practitioners, and cardiologists.

scholarly journals Surgical Options for Pulmonary Valve Pathology in the Current Era

2021 ◽  
Author(s):  
Sameh M. Said
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Carcinoid Syndrome ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Clinical Profile ◽  
Surgical Options ◽  
Valve Pathology

Pulmonary valve pathology occurs mostly in the settings of congenital heart disease whether primary or as the result of repair of a variety of congenital heart defects. Acquired pulmonary valve disorders, albeit rare, can occur in the settings of endocarditis, tumors, carcinoid syndrome, or rheumatic fever. Surgical options include repair and replacement of pulmonary valve. Several options for replacement are available, which can be tailored based on the patient’s clinical profile and the primary valve pathology. In this chapter, we present the surgical options that are currently available for pulmonary valve disorders and the current outcomes.

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