scholarly journals Congenital heart diseases: A review of echocardiogram records

KYAMC Journal ◽  
2018 ◽  
Vol 9 (1) ◽  
pp. 35-38
Author(s):  
Md Saiful Islam ◽  
Md Moniruzzaman

Congenital heart defect (CHD) means an anatomic malformation of the heart or great vessels which occurs during intrauterine development, irrespective of the age at presentation. They can disrupt the normal blood flow through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Broadly congenital heart defects can be acyanotic and cyanotic. We have reviewed retrospectively from echocardiogram record nearly two years of period & collected total 404 patients with congenital heart defects. Among them 329 (81.43%) was acyanotic and 75 (18.57%) was cyanotic congenital defects with variety of diagnosis. Ventricular septal defect was the most common acyanotic heart defect and Tetralogy of Fallot was the most common cyanotic heart defect. There was no significant gender deference.KYAMC Journal Vol. 9, No.-1, April 2018, Page 35-38

Author(s):  
Jo Wray

Congenital heart disease (CHD) has been defined as “. . . a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance” (Mitchell, Korones, and Berendes 1971). Congenital heart disease is the most common single group of congenital abnormalities, accounting for about 30% of the total. The incidence is reported as varying between 0.3% and 1% of all live births. Ten to 15% of children with congenital heart defects have more than one cardiac abnormality; up to one-third also have one or more associated noncardiac congenital abnormalities (Wernovsky 2006). Although some forms of CHD are minor and do not require any medical or surgical intervention, others are very complex and may necessitate a series of staged surgical procedures and/or require life-long medications. Significant improvements in medical and surgical techniques have resulted in increasing numbers of children and adults living with CHD, and it is currently anticipated that 80%–85% of children born with CHD today will survive into adulthood (British Cardiac Society 2002). However, although survival rates have improved dramatically over the last 40 years or so, morbidity remains a concern. Congenital heart defects can be broadly subdivided into two groups, based on changes in the circulation. Acyanotic defects may be due to either a left-to-right shunt or to an obstructive lesion; there is no mixing of desaturated blood in the systemic arterial circulation. With cyanotic defects, there may be either increased or diminished pulmonary flow, and desaturated blood enters the systemic arterial circulation, regardless of whether cyanosis is clinically evident. Unsaturated venous blood bypassing the lungs can result in secondary polycythemia, which is a compensatory mechanism to carry more oxygen to the tissues. This causes increased viscosity, which in turn results in sluggish blood circulation and impeded blood flow, particularly in the capillaries. Poor peripheral blood flow and clubbing of the fingers and toes can result, breathlessness and fatigue often result in a reduced exercise tolerance, and growth may be affected.


2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  

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.


2010 ◽  
Vol 17 (3-4) ◽  
pp. 116-122
Author(s):  
Ramunė VANKEVIČIENĖ

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


2019 ◽  
Vol 49 (2) ◽  
pp. 638-647
Author(s):  
Amalie Bøggild Schmidt ◽  
Marie Lund ◽  
Giulia Corn ◽  
Nina Øyen ◽  
Jan Wohlfahrt ◽  
...  

Abstract Background Pre-pregnancy diabetes is a strong risk factor for congenital heart defects (CHDs), suggesting a role for glucose in the causal pathway. Oral corticosteroids may cause hyperglycemia and maternal use could affect embryonic heart development. The objective of this study was to determine the association between maternal intake of oral corticosteroids 0–8 weeks after conception and CHDs in offspring. Methods A register-based nationwide prevalence study including all live singleton births in Denmark, 1996–2016, was conducted. In total, 1 194 687 individuals and their mothers were identified and linked with information on offspring CHDs and the mothers’ use of oral corticosteroids in early pregnancy. Corticosteroid use was defined as a filled prescription for maternal use of oral corticosteroid 0–8 weeks after conception. CHDs were identified through International Classification of Diseases codes. The association was estimated by prevalence (odds) ratios using logistic regression and propensity score-matched analyses. Results Among 1 194 687 live births, 2032 had a mother who had used oral corticosteroids 0–8 weeks from conception. Of these offspring, 32 had a heart defect. Among the offspring of never-users of oral corticosteroids, 10 534 had a heart defect. The adjusted prevalence ratio was 1.29 (95% confidence interval, 0.90–1.84) comparing offspring prevalence of heart defects in oral corticosteroid users with that in oral corticosteroid never-users. Propensity score-matched analysis yielded similar results (prevalence ratio 1.38; 95% confidence interval, 0.95–2.02). Conclusions This study supports that there is no association between maternal use of oral corticosteroids in the first 8 weeks after conception and CHDs.


Author(s):  
Yunping Lei ◽  
Katherine L Ludorf ◽  
Xiao Yu ◽  
Renata H Benjamin ◽  
Xue Gu ◽  
...  

Abstract BACKGROUND Maternal hypertension has been associated with congenital heart defect occurrence in several studies. We assessed whether maternal genotypes associated with this condition were also associated with congenital heart defect occurrence. METHODS We used data from the National Birth Defects Prevention Study to identify non-Hispanic white (NHW) and Hispanic women with (cases) and without (controls) a pregnancy in which a select simple, isolated heart defect was present between 1999 and 2011. We genotyped 29 hypertension-related single nucleotide polymorphisms (SNPs). We conducted logistic regression analyses separately by race/ethnicity to assess the relationship between the presence of any congenital heart defect and each SNP and an overall blood pressure genetic risk score (GRS). All analyses were then repeated to assess 4 separate congenital heart defect subtypes. RESULTS Four hypertension-related variants were associated with congenital heart defects among NHW women (N = 1,568 with affected pregnancies). For example, 1 intronic variant in ARHGAP2, rs633185, was associated with conotruncal defects (odds ratio [OR]: 1.3, 95% confidence interval [CI]: 1.1–1.6). Additionally, 2 variants were associated with congenital heart defects among Hispanic women (N = 489 with affected pregnancies). The GRS had a significant association with septal defects (OR: 2.1, 95% CI: 1.2–3.5) among NHW women. CONCLUSIONS We replicated a previously reported association between rs633185 and conotruncal defects. Although additional hypertension-related SNPs were also associated with congenital heart defects, more work is needed to better understand the relationship between genetic risk for maternal hypertension and congenital heart defects occurrence.


2021 ◽  
Vol 37 (3) ◽  
Author(s):  
Muhammad Sohail Arshad ◽  
Muhammad Aslam ◽  
Shahnab Ahmad ◽  
Muhammad Kashif

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.


2021 ◽  
Vol 9 ◽  
Author(s):  
Sara Hirani Lau-Jensen ◽  
Benjamin Asschenfeldt ◽  
Lars Evald ◽  
Vibeke E. Hjortdal

Background: Patients with congenital heart defects have a well-established risk of neuropsychiatric comorbidities. Inattention and hyperactivity are three to four times more frequent in children with complex congenital heart defects. We have previously shown a higher burden of overall attention deficit/hyperactivity disorder (ADHD) symptoms in adults with simple congenital heart defects as well. However, it is unknown whether the higher burden of ADHD symptoms is mainly driven by hyperactivity, inattention, or both.Methods: The participants [simple congenital heart defect = 80 (26.6 years old), controls = 36 (25.3 years old)] and a close relative for each (n = 107) responded to the long version of the Conners' Adults ADHD Rating Scales questionnaire. Our primary and secondary outcomes are mean T-scores in the ADHD scores and symptom sub-scores.Results: Patients with simple congenital heart defects reported a higher mean T-score at all three DSM-IV ADHD scores (ADHD—combined: 52.8 vs. 44.9, p = 0.007, ADHD—inattention: 55.5 vs. 46.4, p = 0.002, and ADHD—hyperactivity: 49.4 vs. 44.0, p = 0.03) and in all four ADHD symptom sub-scores (inattention/memory problems: 50.3 vs. 44.2, p = 0.001, hyperactivity/restlessness: 49.7 vs. 45.9, p = 0.03, impulsivity/emotional lability: 50.0 vs. 41.3, p = 0.001, and self-esteem problems: 53.8 vs. 46.3, p = 0.003). The results were maintained after the removal of outliers (incongruent responses), albeit the hyperactivity/restlessness ADHD symptom sub-score lost significance. Self- and informant ratings differed significantly on the ADHD—inattention score for the congenital heart defect group, where informants rated the ADHD—inattention scores better than the congenital heart defect patients rated themselves.Conclusions: Patients with a simple congenital heart defect have a higher symptom burden across all ADHD scores and all symptom sub-scores. The higher burden of ADHD is driven by both inattention and hyperactivity symptoms, though the inattention symptoms seem more prominent. Close relatives were less aware of the inattention symptoms than the congenital heart defect patients themselves. Routine screening for ADHD symptoms may be warranted to facilitate adequate help and guidance as these symptoms are easily overlooked.Clinical Trial Registration:www.ClinicalTrials.gov, identifier: NCT03871881.


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