Conotruncal Malformation Complex: Examples of Possible Monogenic Inheritance

PEDIATRICS ◽  
1979 ◽  
Vol 63 (6) ◽  
pp. 890-893
Author(s):  
Marvin E. Miller ◽  
David W. Smith
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Congenital Heart ◽  
Recurrence Risk ◽  
Strong Family History ◽  
Cardiac Defects ◽  
Monogenic Inheritance ◽  
Congenital Cardiac Defects ◽  
Malformation Complex

Two families are described in which there is possible monogenic inheritance of congenital cardiac defects within the spectrum of faulty conotruncal septation (CTS). Evidence for a genetic control of conotruncal septation arises from genetic and embryologic studies of similar defects in the Keeshond dog model, the excess of sibship pairs with conotruncal septation defects in sibship pairs with congenital heart disease, and previously reported pedigrees of families with multiple affected individuals with conotruncal septation defects. It is suggested that in the small number of cases of congenital cardiac defects in which there is a strong family history for CTS defects, a higher recurrence risk should be considered rather than the usual polygenic recurrence risk of 3% that is usually given in such situations.

scholarly journals Pattern of Congenital Heart Disease In Children Attending Central Teaching Pediatric Hospital, Baghdad

2020 ◽  
Vol 15 (2) ◽  
pp. 82-86
Author(s):  
Husam T Al-Zuhairi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Cardiac Defects ◽  
Common Cause ◽  
Congenital Cardiac Defects ◽  
Modes Of Presentation ◽  
Patent Ductus

Background: Congenital cardiac defects have a wide spectrum of severity in infants. About 30-40% of patients with congenital cardiac defects will be symptomatic in the 1st year of life, while the diagnosis was established in 60% of patients by the 1st month of age. Objectives: To identify the occurrence of specific types of CHD among hospitalized patients and to evaluate of growth of patients by different congenital heart lesions. Methods: A retrospective study, done on ninety-six patients (51 male and 45 female) with congenital heart disease (CHD) admitted to central teaching hospital of pediatrics, Baghdad from 1st September 2009 to 30th of August 2010. Results: The most common congenital heart diseases (CHD) were ventricular septal defect (VSD), tetralogy of Fallot (TOF), patent ductus arteriosus (PDA), transposition of great arteries (TGA), pulmonary Stenosis( PS), and Atrial septal defect (ASD).The most common modes of presentation were respiratory infection and heart failure in acyanotic patients and cyanosis in cyanotic groups. The study showed that only patent ductus arteriosus and atrial septal defects were more common in female while all other lesions were equal male to female ratio or slightly more common in male. The effect of acyanotic congenital heart disease on growth (Wt) is more common than cyanotic congenital heart disease. Conclusions: VSD is the most common type of congenital heart disease and the most common cause of morbidity, while ASD is the least common cause of morbidity in patients with congenital heart disease. The most common modes of presentation of patients with CHD are respiratory infection and heart failure in acyanotic CHD while cyanosis is the most common presentation in cyanotic group.

Trazodone-Associated Syncope in a Patient with Congenital Cardiac Anomalies

1998 ◽  
Vol 14 (2) ◽  
pp. 78-81
Author(s):  
Vinod S Bhatara ◽  
Sami Awadallah
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects ◽  
Cardiac Anomalies ◽  
Case Summary ◽  
Congenital Cardiac Anomalies

Objective: To report a case of trazodone-associated syncope in a 19-year-old woman with congenital cardiac anomalies and to review risk factors and mechanisms involved in this case. Case Summary: A 19-year-old woman diagnosed with Noonan syndrome with congenital cardiac anomalies tolerated sertraline, but had a syncopal episode when trazodone was used. There was no recurrence of syncope after the trazodone was discontinued. Discussion: The syncopal episode could have resulted from either trazodone or congenital heart disease, but it most likely resulted from a trazodone–congenital heart disease interaction. Trazodone is not cardiotoxic in most patients; our patient was probably vulnerable to the cardiotoxic effects of trazodone due to congenital cardiac defects. Conclusions: Trazodone can precipitate arrhythmias or syncope in susceptible patients with heart disease and should be prescribed cautiously in patients with congenital heart disease. In such cases, it may be safer to use a selective serotonin-reuptake inhibitor.

GENETICS OF CARDIAC MALFORMATIONS

2008 ◽  
Vol 19 (2) ◽  
pp. 105-118
Author(s):  
SHA TANG ◽  
TAOSHENG HUANG
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Fetal Life ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Psychological Burden ◽  
Congenital Cardiac Defects ◽  
Child Healthcare

ABSTRACTCongenital heart disease is one of the most common major malformations in humans, contributing substantially to the financial and psychological burden of child healthcare. About one percent of children are born with heart defects, and every year, more children die from congenital heart disease than are diagnosed with cancer. A diagnosis of congenital heart disease is frightening for parents, particularly when it affects a fragile newborn. The heart is the first organ to be matured in a human fetus and if a particular congenital heart defect is compatible with fetal life, the child will be born with a defective heart. More than 300 genetic syndromes are associated with congenital cardiac defects. In this review, we will discuss the genetics of congenital heart disease, how to carry out a diagnosis of the genetic causes and how to provide counseling for families with congenital heart disease.

scholarly journals Familial congenital heart disease in Bandung, Indonesia

2013 ◽  
Vol 53 (3) ◽  
pp. 173
Author(s):  
Sri Endah Rahayuningsih
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Dilated Cardiomyopathy ◽  
Congenital Heart ◽  
Family Studies ◽  
Recurrence Risk ◽  
Descriptive Study ◽  
Pedigree Analysis ◽  
Tricuspid Atresia ◽  
History Of

Background Congenital heart disease (CHD) may occur inseveral members of a family. Studies have shown that familialgenetic factor play a role in CHD.Objective To identify familial recurrences of CHD in familieswith at least one member treated for CHD in Dr. Hasan SadikinHospital, Bandung Indonesia.Methods In this descriptive study, subjects were CHD patientshospitalized or treated from January 2005 to December 2011. Weconstructed family pedigrees for five families.Results During the study period, there were 1,779 patients withCHD. We found 5 families with 12 familial CHD cases, consistingof 8 boys and 4 girls. Defects observed in these 12 patients weretetralogy of Fallot, transposition of the great arteries, persistentductus arteriosus, ventricular septa! defect, tricuspid atresia,pulmonary stenos is, and dilated cardiomyopathy. Persistent ductusarteriosus was the most frequently observed defect (4 out of 12subjects) . None of the families had a history of consanguinity. Therecurrence risk of CHD among siblings was calculated to be 0.67%,and the recurrence risk ofCHD among cousins was 0.16%.Conclusion Familial CHD may indicate the need for geneticcounseling and further pedigree analysis.

Cardiac involvement in genetic disease

2010 ◽  
pp. 2834-2841
Author(s):  
Thomas A. Traill
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Genetic Disease ◽  
Congenital Heart ◽  
Cardiac Involvement ◽  
Atrioventricular Canal ◽  
Marfan's Syndrome ◽  
Atrioventricular Canal Defect ◽  
History Of

Many clinicians find themselves faced, from time to time, with a patient who has a family history of a known disorder, such as Marfan’s syndrome, or who has noncardiac features that suggest a syndrome. Down’s syndrome—25 to 50% have congenital heart disease, most characteristically atrioventricular canal defect....

scholarly journals Prevalence of Congenital Heart Disease: A Single Center Experience in Southwestern of Iran

2016 ◽  
Vol 8 (10) ◽  
pp. 288 ◽  
Author(s):  
Pedram Nazari ◽  
Mohammad Davoodi ◽  
Mohammad Faramarzi ◽  
Mohammad Bahadoram ◽  
Nozar Dorestan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Congenital Heart ◽  
Septal Defect ◽  
Cross Sectional Study ◽  
Concomitant Disease ◽  
Single Center ◽  
Cross Sectional ◽  
Single Center Experience

<p><strong>BACKGROUND:</strong> Congenital heart disease (CHD) refers to complex abnormalities that affect the structure or function of the heart due to embryonic defects. There is little accurate statistical data about prevalence, incidence and frequency in many developing countries such as Iran. The aim of this study was to evaluate the frequency of CHD in patients who were referred to the Department of Pediatric Cardiology in a large single-center in Southwestern of Iran.</p><p><strong>METHODS:</strong> This is a retrospective, cross-sectional study. Patients with various cardiac malformations were each investigated separately. A check list was used to collect information. It was comprised of three parts; demographic characteristics, Patient’s birth details and maternal data.</p><p><strong>RESULTS:</strong> The frequency of ventricular septal defect (VSD), atrial septal defect (ASD) and tetralogy of fallot (TOF) were 125 (28.47%), 48 (10.93%) and 41(9.3%) respectively. Family history was reported in 26(11.1%) cases. Down syndrome, skeletal anomaly and hematological anomaly were the most common co-anomalies. Parental consanguinity was 48.7%.</p><p><strong>CONCLUSIONS:</strong> Present study showed that VSD was the most common CHD subtype followed by family history, familial marriage, extra cardiac anomalies (ECAs), birth weight, and maternal concomitant disease. But there was a controversial relationship between birth order and drug history in CHD.</p>

scholarly journals Mismatch between self-estimated and objectively assessed exercise capacity in patients with congenital heart disease varies in regard to complexity of cardiac defects

2020 ◽  
pp. 1-7
Author(s):  
Julius M. Woile ◽  
Stefan Dirks ◽  
Friederike Danne ◽  
Felix Berger ◽  
Stanislav Ovroutski
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Oxygen Uptake ◽  
Exercise Capacity ◽  
Congenital Heart ◽  
Cardiopulmonary Exercise Testing ◽  
Peak Oxygen Uptake ◽  
Subjective Rating ◽  
Cardiac Defects ◽  
Cardiopulmonary Exercise

Abstract Aim: Regular evaluation of physical capacity takes a crucial part in long-term follow-up in patients with congenital heart disease (CHD). This study aims to examine the accuracy of self-estimated exercise capacity compared to objective assessments by cardiopulmonary exercise testing in patients with CHD of various complexity. Methods: We conducted a single centre, cross-sectional study with retrospective analysis on 382 patients aged 8–68 years with various CHD who completed cardiopulmonary exercise tests. Peak oxygen uptake was measured. Additionally, questionnaires covering self-estimation of exercise capacity were completed. Peak oxygen uptake was compared to patient’s self-estimated exercise capacity with focus on differences between complex and non-complex defects. Results: Peak oxygen uptake was 25.5 ± 7.9 ml/minute/kg, corresponding to 75.1 ± 18.8% of age- and sex-specific reference values. Higher values of peak oxygen uptake were seen in patients with higher subjective rating of exercise capacity. However, oxygen uptake in patients rating their exercise capacity as good (mean oxygen uptake 78.5 ± 1.6%) or very good (mean oxygen uptake 84.8 ± 4.8%) was on average still reduced compared to normal. In patients with non-complex cardiac defects, we saw a significant correlation between peak oxygen uptake and self-estimated exercise capacity (spearman-rho −0.30, p < 0.001), whereas in patients with complex cardiac defects, no correlation was found (spearman-rho −0.11, p < 0.255). Conclusion: The mismatch between self-estimated and objectively assessed exercise capacity is most prominent in patients with complex CHD. Registration number at Charité Universitätsmedizin Berlin Ethics Committee: EA2/106/14.

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