scholarly journals Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”

2021 ◽  
Vol 37 (3) ◽  
Author(s):  
Muhammad Sohail Arshad ◽  
Muhammad Aslam ◽  
Shahnab Ahmad ◽  
Muhammad Kashif
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Vascular Malformations ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Tertiary Care ◽  
Primary Diagnosis ◽  
Congenital Defects

Objectives: To assess the frequency and pattern of associated congenital heart disease (CHD) among patients with “non-cardiac congenital defects”. Methods: An observational study was done at Paediatric Cardiology Department, The Children’s Hospital and The Institute of Child Health, Multan, Pakistan, from December 2018 to November 2019. Children from birth to 15 years having non-cardiac congenital defects, referred for cardiac evaluation from surgical unit during the study period were enrolled. Echocardiography was done to confirm diagnosis of CHD by consultant pediatric cardiologist. Results: Out of a total of 323 cases, 176 (54.5%) were male. Out of 323 patients, 160 (49.5%) belonged to age one month to one year. Vascular malformations were the most frequent primary diagnosis among our cases, seen in 69 (21.4%) children followed by cleft lip and palate 55 (17.2%), cleft palate only 52 (16.1%), Cleft lip only 40 (12.4%) and ARM high variety 33 (10.2%). CHD was found among 42 (13.0%) children while patent ductus arteriosus (PDA) and VSD were the commonest finding seen in 14 (33.3%) and 6 (14.3%) children respectively. Conclusion: Frequency of associated CHD among patients with non-cardiac congenital defects was high (13.0%). Children with cleft lip and/or palate should be given more attention because of the high incidence of CHD in this group. Echocardiography must be advised for the timely identification of any possible type of CHD. doi: https://doi.org/10.12669/pjms.37.3.3604 How to cite this:Arshad MS, Aslam M, Ahmad S, Kashif M. Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”. Pak J Med Sci. 2021;37(3):---------. doi: https://doi.org/10.12669/pjms.37.3.3604 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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 Síndrome de deleção 22q11.2 e cardiopatias congênitas

2011 ◽  
Vol 29 (2) ◽  
pp. 251-260 ◽  
Author(s):  
Rafael Fabiano M. Rosa ◽  
Paulo Ricardo G. Zen ◽  
Carla Graziadio ◽  
Giorgio Adriano Paskulin
Keyword(s):  
Congenital Heart Defects ◽  
Digeorge Syndrome ◽  
Congenital Heart ◽  
Vascular Malformations ◽  
Heart Defects ◽  
Velocardiofacial Syndrome ◽  
Cardio Vascular

OBJETIVO: Revisar as características clínicas, etiológicas e diagnósticas da síndrome de deleção 22q11 e sua associação com as cardiopatias congênitas. FONTES DOS DADOS: Foram pesquisados artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se descritores específicos como "22q11", "DiGeorge syndrome", "velocardiofacial syndrome", "congenital heart defects" e "cardio-vascular malformations". O período adotado para a revisão foi de 1980 a 2009. SÍNTESE DOS DADOS: As malformações cardíacas são os defeitos congênitos observados mais frequentemente ao nascimento e representam um problema importante de Saúde Pública. Dentre suas principais causas conhecidas destaca-se a síndrome de deleção 22q11, também chamada de síndrome de DiGeorge, síndrome velocardiofacial e CATCH22. Trata-se de uma doença autossômica domi-nante caracterizada por um fenótipo altamente variável, o que dificulta em muito seu reconhecimento clínico. Além disso, a maior parte dos pacientes apresenta uma microdeleção identificada principalmente por técnicas de citogenética molecular, como a hibridização in situ fluorescente, pouco disponíveis em nosso meio. De forma similar a outras síndromes, a síndrome de deleção 22q11 associa-se a certos defeitos cardíacos específicos, no caso os do tipo conotruncal. Apesar disso, não há ainda na literatura um consenso sobre quais os pacientes com car-diopatia congênita que deveriam ser investigados para a síndrome de deleção 22q11. CONCLUSÕES: Cardiologistas e cirurgiões cardíacos, espe-cialmente pediátricos, devem estar cientes das peculiaridades e dos cuidados dispensados à síndrome de deleção 22q11. Os indivíduos com a síndrome apresentam comumente alterações envolvendo vários sistemas, o que pode levar a dificuldades e a complicações durante seu manejo clínico e cirúrgico.

Fetal echocardiography in Lithuania: traditions, significance and problems

2010 ◽  
Vol 17 (3-4) ◽  
pp. 116-122
Author(s):  
Ramunė VANKEVIČIENĖ
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Fetal Echocardiography ◽  
Heart Defects ◽  
Tertiary Care ◽  
Congenital Heart Diseases ◽  
Conduction Disturbances ◽  
Tertiary Care Centers ◽  
Almost All

Background. The discovery of ultrasound has made a revolution in almost all fields of medicine. The past three decades have withessed an intensive development of fetal echocardiography methods and technique. The aim of the paper is to present a review of the results and trends of the last 10 years of fetal echocardiography in Lithuania and to show the spectrum and outcomes of prenatally detected congenital heart diseases. Materials and methods. Fetal echocardiography was performed for 1816 fetuses during the period from 1999 to 2009. Results. Cardiac pathology was diagnosed in 176 (9.7%) fetuses. Heart defects were detected in 112 (63.6%) of them, cardiac rhythm and conduction disturbances in 62 (35.2%), cardiomyopathy in 2 (1.1%) fetuses, and heart rhabdomyoma in 1 (0.6%) fetus. The general rate of the postnatal diagnosis of congenital heart defects in Lithuania was about 10%. Most of fetal cardiac diseases (70.5%) were diagnosed after 22 weeks of gestation. Because most of antenatally diagnosed congenital heart defects (74%) were critical and inconsistent with life, a large part of newborns (40.2%) died in the neonatal period, 10.7% of fetuses died in utero, and 8% of pregnancies were terminated by abortion. The data demonstrate good tendencies: the diagnosis has become earlier, a wider spectrum of diseases have been diagnosed, more newborns have survived. Our survey shows that 41.1% of newborns with prenatally diagnosed congenital heart defects have survived. Conclusions. 10% of severe congenital heart diseases are detected prenatally in Lithuania. The efficacy of antenatal diagnostics depends on the qualification of specialists, the number of tertiary care centers, on a successful collaboration among pediatric cardiologists, obstetricians and geneticists. The main problem is an insufficient preparation of obstetricians, the uncertified favor of pediatric cardiologist. Keywords: congenital heart disease, fetal echocardiography, antenatal diagnostics

scholarly journals Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Tatiana Khodyuchenko ◽  
Anna Zlotina ◽  
Tatiana Pervunina ◽  
Dmitry Zverev ◽  
Anna Malashicheva ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Smooth Muscle Actin ◽  
Ductus Arteriosus ◽  
Control Group ◽  
Missense Mutations ◽  
Muscle Actin ◽  
Cardiac Actin

Background. Congenital heart defects (CHDs) often have genetic background due to missense mutations in cardiomyocyte-specific genes. For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (PDA). In the present study, we further searched for mutations in humanα-cardiac actin (ACTC1) and smooth muscleα-actin (ACTA2) genes as a possible cause of atrial septum defect type II (ASDII) and PDA.Findings. Total genomic DNA was extracted from peripheral blood of 86 individuals with ASDs and 100 individuals with PDA. Coding exons and flanking intron regions ofACTC1(NM_005159.4) andACTA2(NM_001613) were amplified by PCR with specific primers designed according to the corresponding gene reference sequences. PCR fragments were directly sequenced and analyzed. Sequence analysis ofACTC1andACTA2did not identify any nucleotide changes that altered the coding sense of the genes. InACTC1gene, we were able to detect one previously described nucleotide polymorphism (rs2307493) resulting in a synonymous substitution. The frequency of this SNP was similar in the study and control group, thus excluding it from the possible disease-associated variants.Conclusions. Our results confirmed that the mutations inACTC1gene are rare (at least <1%) cause of ASDII. Mutations inACTA2gene were not detected in patients with PDA, thus being excluded from the list of frequent PDA-associated genetic defects.

scholarly journals Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

2016 ◽  
Vol 9 (3) ◽  
pp. 216 ◽  
Author(s):  
Shaad Abqari ◽  
Akash Gupta ◽  
Tabassum Shahab ◽  
MU Rabbani ◽  
SManazir Ali ◽  
...  
Keyword(s):  
Risk Factors ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Tertiary Care Hospital ◽  
Heart Defects ◽  
Tertiary Care ◽  
Care Hospital

Abstract P515: Dynamics Of Cardiomyocyte Differentiation In Isogenic Induced Pluripotent Stem Cells Derived From Trisomy21 Patients Hints Molecular Pathology Of Congenital Heart Defects In Down Syndrome

2021 ◽  
Vol 129 (Suppl_1) ◽  
Author(s):  
Malay Chaklader ◽  
Beverly A Rothermel
Keyword(s):  
Stem Cells ◽  
Down Syndrome ◽  
Induced Pluripotent Stem Cells ◽  
Congenital Heart Defects ◽  
Pluripotent Stem Cells ◽  
Congenital Heart ◽  
Heart Defects ◽  
Congenital Defects ◽  
Cardiac Progenitors ◽  
Induced Pluripotent

Down syndrome (DS) is the most frequently occurring human chromosomal disorder and is responsible for a range of both congenital defects and progressive, degenerative conditions. For instance, an estimated 50% DS neonates are born with congenital heart defects (CHD) and more than 50% of DS adults develop early onset Alzheimer’s. Using induced pluripotent stem cells (iPSCs) derived from DS patients and isogenic controls we previously demonstrated the presence of a hyper-metabolic, hyper-fused mitochondrial network in trisomic iPSCs (3S-iPSCs) compared to disomic (2S-iPSCs) controls. Furthermore, mitochondrial function was normalized by siRNA depletion of RCAN1, an inhibitor of the protein phosphatase calcineurin (CN). Both CN signaling and mitochondrial metabolism have been implicated in a variety of steps during the progression from embryonic stem cells to cardiac progenitors, including self-renewal, exit from pluripotency, and commitment to cardiac verses hematopoietic lineages. Based on this, we hypothesized that the dynamics of many of these processes will be altered over the course of differentiation of 3S-iPSCs to cardiomyocytes when compared to 2S-iPSCs. Here, we investigate the temporal expression of pluripotency associated genes and lineage associated genes as well as cardiac mesoderm and mature cardiomyocyte specific genes. We also define and compare changes in CN activity, expression of specific CN isoforms, mitochondrial expansion, ROS generation, and activation of stress responses. Our study identifies early developmental and metabolic sequelae capable of contributing to CHD in DS that may result from a disruption in the normal balance in crosstalk between CN and RCAN1.

scholarly journals FRQUENCY AND PATTERN OF CONGENITAL HEART DEFECTS IN A TERTIARY CARE CARDIAC HOSPITAL OF KARACHI.

1969 ◽  
Vol 32 (1) ◽  
Author(s):  
Najma Patel ◽  
Shama Jawed ◽  
Nagina Nigar ◽  
Fariha Junaid ◽  
Asia Abdul Wadood ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Tertiary Care

Pharmacotherapy of Congenital Heart Defects

2004 ◽  
Vol 9 (3) ◽  
pp. 160-178
Author(s):  
Shannan Eades
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pediatric Population ◽  
Ductus Arteriosus ◽  
Pharmacological Agents ◽  
Mild Heart Failure ◽  
Cardiovascular Defects

Congenital cardiovascular defects account for significant morbidity and mortality in the pediatric population. Complications of congenital heart disease are lesion-dependent and may range from mild heart failure with no cyanosis to severe cyanosis and shock. Pharmacotherapy of congenital heart disease is also lesion-dependent and usage may range from palliative agents (e.g., prostaglandin E1 for relaxation of aortic stricture) to corrective agents (e.g., indomethacin for closure of the ductus arteriosus). This review will discuss the aberrant pathophysiology and complications associated with specific congenital heart defects, as well as the selection of pharmacological agents used in the management of these defects.

Survival, Morbidities, and Developmental Outcomes among Low Birth Weight Infants with Congenital Heart Defects

2020 ◽  
Author(s):  
Mihai Puia-Dumitrescu ◽  
Laura N. Sullivan ◽  
David Tanaka ◽  
Kimberley Fisher ◽  
Rick Pittman ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Congenital Heart Defects ◽  
Gestational Age ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Developmental Outcomes ◽  
Low Birth Weight Infants ◽  
Common Diagnosis

Objective Prematurity and low birth weight (LBW) are risk factors for increased morbidity and mortality in infants with congenital heart defects (CHDs). We sought to describe survival, inhospital morbidities, and 2-year neurodevelopmental follow-up in LBW infants with CHD. Study Design We included infants with birth weight (BW) <2,500 g diagnosed with CHD (except isolated patent ductus arteriosus) admitted January 2013 to March 2016 to a single level-IV academic neonatal intensive care unit. We reported CHD prevalence by BW and gestational age; selected in-hospital morbidities and mortality by infant BW, CHD type, and surgical intervention; and developmental outcomes by Bayley's scales of infant and toddler development, third edition (BSID-III) scores at age 2 years. Results Among 420 infants with CHD, 28 (7%) underwent cardiac surgery. Median (25th and 75th percentiles) gestational age was 30 (range: 27–33) weeks and BW was 1,258 (range: 870–1,853) g. There were 134 of 420 (32%) extremely LBW (<1,000 g) infants, 82 of 420 (20%) were small for gestational age, and 51 of 420 (12%) multiples. Most common diagnosis: atrial septal defect (260/420, 62%), followed by congenital anomaly of the pulmonary valve (75/420, 18%). Most common surgical procedure: pulmonary artery banding (5/28, 18%), followed by the tetralogy of Fallot corrective repair (4/28, 14%). Survival to discharge was 88% overall and lower among extremely LBW (<1,000 g, 81%) infants and infants undergoing surgery (79%). Comorbidities were common (35%); retinopathy of prematurity and bronchopulmonary dysplasia were most prevalent. BSID-III scores were available on 148 of 176 (84%); any scores <85 were noted in 73 of 148 (49%), with language being most commonly affected. Conclusion Among LBW infants with congenital heart disease, hospital mortality varied by BW and cardiac diagnosis. Key Points

Prenatal screening of congenital heart defects in population at low risk of congenital defects. A reality today

2015 ◽  
Vol 82 (1) ◽  
pp. 27-34 ◽  
Author(s):  
J.A. Sainz ◽  
M.J. Zurita ◽  
I. Guillen ◽  
C. Borrero ◽  
J. García-Mejido ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Heart Defects ◽  
Low Risk ◽  
Congenital Defects
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