scholarly journals Parental consanguinity and congenital heart defects in Afghan children with Down’s syndrome

2021 ◽  
Vol 61 (6) ◽  
pp. 306-10
Author(s):  
Abdul Muhib Sharifi ◽  
S. Najmuddin Jalal ◽  
M. Sharif Sediqi ◽  
M. Akbar Ibrahimi ◽  
A. Wali Sharifi
Keyword(s):  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Marriage Rate ◽  
Cross Sectional Study ◽  
Consanguineous Marriage ◽  
Cross Sectional ◽  
Low Prevalence

Abstract Background: It seems that parents’ consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down’s syndrome (DS) was determined in Afghanistan’s children population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity. Objective: This analytic cross sectional study aimed to determine the frequency and distribution of CHDs in Afghanistan children with Down’s Syndrome as a group in a community with a high consanguineous marriage rate and comparing these with different global studies and populations with low prevalence of consanguinity. Methods: This analytic cross sectional study was conducted in a pediatric teaching hospital in Kabul city - Afghanistan, named Maiwand Hospital. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from September 2018–September 2020. Parents’ consanguinity was documented and 2D echocardiography and Doppler studies were performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray for each patient. Results: During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 78 children with DS were 35% (42 patients) and 30% (36 patients), respectively. Ventricular septal defect (20.5%) and atrial septal defect (15.3%) were the most common isolated defects. The combination of VSD and PDA (20.5%) were the most frequent multiple CHDs. The most com­mon associations of CHD were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2 % of all parents. Conclusions: A higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were almost similar to those reported locally and internationally; VSD was the most frequently detected in this study. Interesting was the predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD in this DS population. key words: congenital heart disease, atrioventricular septal defect, Down’s syndrome, trisomy 21, Afghanistan

scholarly journals DOWN’S SYNDROME;

2013 ◽  
Vol 20 (06) ◽  
pp. 898-903
Author(s):  
SHAKIL AHMAD ◽  
IMRAN SARWAR ◽  
NISAR KHAN SAJID
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Maternal Age ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Septal Defects ◽  
Age At Birth

Objective: To evaluate the various types of congenital heart defects and to determine their frequency in children withDown’s syndrome. Study Design: Descriptive study. Place and duration of study: Department of Pediatrics, Independent UniversityHospital Faisal Abad Pakistan, from January 2010 to December 2012. Methodology: 93 children between the ages of day 1 to 12 years,diagnosed clinically as Down’s syndrome based on its characteristic phenotypic appearance, were included in the study. A detailedhistory, physical examination and evaluation of cardiovascular status (including Chest x-ray, Electrocardiogram and Echocardiography)were performed in each Down’s syndrome case. Variables of interest included age, sex, maternal age at birth and type and frequency ofcongenital heart disease. Results: Congenital heart disease was present in 48 (51.62%) children out of 93 children with Down’ssyndrome. Congenital cardiac defects in order of predominant type and their frequency included Ventricular septal defect (29, 60.4%),Atrioventricular septal defect (14, 29.1%), Atrial septal defect (2, 4.1%), Patent ductus arteriosis (2, 4.1%) and Tetralogy of Fallots (1,2%). 68 (73.2%) Down’s syndrome children (n=93) presented during their first year of life with mean age of 7±4 months. Malepredominance was observed in both with and without congenital heart disease Down’s syndrome children (male: female 1.7:1 and 2.5:1respectively). Mean maternal age at birth was 27±2 years. Conclusions: Congenital heart disease (CHD) is frequently associated withDown’s syndrome (DS). Ventricular septal defects and atrioventricular septal defects are the most common forms of CHDs in DS childrenof our region. Their earlier presentation (in infancy) and significant contribution to the morbidity and mortality of DS children warrantsearly diagnosis of DS and mandatory screening of all DS children for associated CHDs.

Prevalence of Congenital Heart Disease among Children in Khorramabad (West of Iran)

2020 ◽  
Vol 20 ◽  
Author(s):  
Alireza Nezami ◽  
Ghobad Heidari ◽  
Fariba Tarhani ◽  
Masoumeh Kariminia
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Signs And Symptoms ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Cardiothoracic Ratio ◽  
Septal Defects

Aims:: Congenital heart disease is among the most common congenital anomalies in pediatrics. The aim of this study was to evaluate the prevalence of congenital heart disease in children in Khorramabad, Iran. Methods:: This is a descriptive-cross sectional study where all the children admitted to Shahid Madani Hospital who were diagnosed with congenital heart disease by echocardiography were enrolled. Patient information was collected by means of a questionnaire. Of 1600 children who underwent cardiac counseling, 9.75% presented congenital heart disease. These were most prevalent among the children of 0-28 days of the age (14.7%) and least in children aged 1 month-1year. According to this study, atrial (20.3%) and ventricular septal defect (10.5%) were the most common heart defects, respectively. Among signs and symptoms of cardiac disease, 49.1% of children had cyanosis, 89.7% with increased CT (cardiothoracic)-ratio, and 82.7% of had heart murmur. Congenital heart disease was more prevalent in male infants (58%) and 6.6% patients had heart failure and 1.4% had other congenital conditions, such as Down syndrome. Results:: According to our findings, atrial and ventricular septal defects are the most common congenital heart anomalies, respectively, in pediatric patients in Khorramabad.

Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden

2004 ◽  
Vol 14 (1) ◽  
pp. 24-31 ◽  
Author(s):  
Christina Frid ◽  
Gudrun Björkhem ◽  
Anders Jonzon ◽  
Jan Sunnegårdh ◽  
Göran Annerén ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Term Survival ◽  
Long Term Survival

Background:The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation.Methods and results:In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduction over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients.Conclusions:Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Atrioventricular septal defect with tetralogy of Fallot

1991 ◽  
Vol 1 (4) ◽  
pp. 396-398
Author(s):  
Bharat Dalvi ◽  
Krishnagopal Gupta ◽  
Satyavan Sharma
Keyword(s):  
Tetralogy Of Fallot ◽  
Septal Defect ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Cross Sectional

SummaryWe present a case of atrioventricular septal defect associated with tetralogy of Fallot which was diagnosed by cross-sectional echocardiography and angiography. The diagnosis was confirmed at necropsy. This case is unusual for the absence of Down's syndrome. We discuss the role of clinical, echocardiographic, hemodynamic and angiographic studies.

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>

Sign in / Sign up

Export Citation Format

Share Document