Echocardiographic diagnosis of atrioventricular septal defect without primum atrial septal defect: a relatively ^^common^^ congenital heart defect in Down’s syndrome

2011 ◽  
Vol 11 (2) ◽  
Author(s):  
Sulafa Ali
Keyword(s):  
Atrial Septal Defect ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Heart Defect

scholarly journals The fitness cost of a congenital heart defect shapes its genetic architecture

2019 ◽  
Author(s):  
Ehiole Akhirome ◽  
Suk D. Regmi ◽  
Rachel A. Magnan ◽  
Nelson Ugwu ◽  
Yidan Qin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defect ◽  
Genetic Architecture ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Atrioventricular Septal Defect ◽  
Fitness Cost ◽  
Heart Defect

ABSTRACTBackgroundIn newborns, severe congenital heart defects are rarer than mild ones. The reason why is unknown, but presumably related to a liability threshold that rises with the severity of a defect. Because the same genetic mutation can cause different defects, other variables may contribute to pushing an individual past a defect-specific liability threshold. We consider here how variables in the genetic architecture of a heart defect depend upon its fitness cost, as defined by the likelihood of survival to reproductive age in natural history studies.MethodsWe phenotyped ~10,000 Nkx2-5+/- newborn mice, a model of human congenital heart disease, from two inbred strain crosses. Genome-wide association analyses detected loci that modify the risk of an atrial septal defect, membranous or muscular ventricular septal defect, or atrioventricular septal defect. The number of loci, heritability and quantitative effects on risk of pairwise (G×GNkx) and higher-order (G×G×GNkx) epistasis between the loci and Nkx2-5 mutation were examined as a function of the fitness cost of a defect.ResultsNkx2-5+/- mice have pleiotropic heart defects; about 70% have normal hearts. The model recapitulates the epidemiological relationship between the severity and incidence of a heart defect. Neither the number of modifier loci nor heritability depends upon the severity of a defect, but G×GNkx and G×G×GNkx effects on risk do. Interestingly, G×G×GNkx effects are three times more likely to suppress risk when the genotypes at the first two loci are homozygous and from the same, rather than opposite strains in a cross. Syn- and anti-homozygous genotypes at G×G×GNkx interactions can have an especially large impact on the risk of an atrioventricular septal defect.ConclusionsGiven a modestly penetrant mutation, epistasis contributes more to the risk of severe than mild congenital heart defect. Conversely, genetic compatibility between interacting genes, as indicated by the protective effects of syn-homozygosity at G×G×GNkx interactions, plays a newfound role in the robustness of cardiac development. The experimental model offers practical insights into the nature of genetic risk in congenital heart disease. The results more fundamentally address a longstanding question regarding how mutational robustness could arise from natural selection.

scholarly journals ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

2011 ◽  
Vol 19 (4) ◽  
pp. 389-393 ◽  
Author(s):  
Irene C Joziasse ◽  
Kelly A Smith ◽  
Sonja Chocron ◽  
Maarten van Dinther ◽  
Victor Guryev ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Heart Defect

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.

Cancer risk among patients with congenital heart defects: a nationwide follow-up study

2013 ◽  
Vol 24 (1) ◽  
pp. 40-46 ◽  
Author(s):  
Morten Olsen ◽  
Ester Garne ◽  
Claus Sværke ◽  
Lars Søndergaard ◽  
Henrik Nissen ◽  
...  
Keyword(s):  
General Population ◽  
Cancer Risk ◽  
Confidence Interval ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Heart Defect

AbstractObjectiveWe aimed to assess cancer risk in congenital heart defect patients, with and without Down's syndrome, compared with the general population.MethodsWe identified all patients born and diagnosed with congenital heart defects from 1977 to 2008 using the Danish National Registry of Patients, covering all Danish hospitals. We compared cancer incidence in the congenital heart defect cohort with that expected in the general population (∼5.5 million) using the Danish Cancer Registry, and computed age- and gender-standardised incidence ratios.ResultsWe identified 15,905 congenital heart defect patients, contributing a total of 151,172 person-years at risk; the maximum length of follow-up was 31 years (median 8 years). In all, 53 patients were diagnosed with cancer, including 30 female and 23 male patients (standardised incidence ratio = 1.63; 95% confidence interval: 1.22–2.13). Risks were increased for leukaemia, brain tumours, and basal cell carcinoma. After excluding 801 patients with Down's syndrome, the standardised incidence ratio was 1.19 (95% confidence interval: 0.84–1.64). In the subgroup of 5660 non-Down's syndrome patients undergoing cardiac surgery or catheter-based interventions, the standardised incidence ratio was 1.45 (95% confidence interval: 0.86–2.29).ConclusionThe overall risk of cancer among congenital heart defect patients without Down's syndrome was not statistically significantly elevated. Cancer risk in the congenital heart defect cohort as a whole, including patients with Down's syndrome, was increased compared with the general population, although the absolute risk was low. Studies with longer follow-up and more information on radiation doses are needed to further examine a potential cancer risk associated with diagnostic radiation exposure.

Cleft of the mitral valve in patients with Down's syndrome

2002 ◽  
Vol 12 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Alain Fraisse ◽  
Tony Abdel Massih ◽  
Damien Bonnet ◽  
Daniel Sidi ◽  
Jean Kachaner
Keyword(s):  
Mitral Valve ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Surgical Repair ◽  
Ductus Arteriosus ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Atrial Septal Defect Closure

Differentiation between a cleft of the mitral valve and the cleft of the left side of an atrioventricular septal defect – a lesion commonly found in patients with Down's syndrome – is surgically important since the distribution of the conduction tissue varies between the 2 lesions. We sought to determine if cleft of the mitral valve occurs also in patients with Down's syndrome. We studied 5 patients with Down's syndrome and cleft of the mitral valve followed in our institution. Echocardiography showed in all 5 patients a cleft dividing the anterior (aortic) leaflet of mitral valve with normal papillary muscle position, mural leaflet size, and ratio of the inlet/outlet dimension of the left ventricle. Associated cardiac lesions were present in all 5 patients: perimembranous ventricular septal defect in 3, ostium secundum atrial septal defect in 2 and patent ductus arteriosus in 2 patients. During the 5.6 years (0.2–11) of the follow-up period, surgical repair of the cleft was never indicated since the mitral regurgitation through the cleft remained mild or absent in all the patients. Two patients underwent closure of a ventricular septal defect, with atrial septal defect closure in one and ductal ligation in 2. One patient died suddenly at home, without evidence of a cardiac cause. In conclusion, a cleft of the mitral valve has important developmental and morphologic differences with atrioventricular septal defect and may occur in patients with Down's syndrome. If surgical repair of the cleft or of associated cardiac lesion is indicated, it is necessary to distinguish it from atrioventricular septal defect where the conduction axis is displaced posteriorly and may be exposed during surgery.

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.

Massive pericardial effusion with left-to-right intracardiac shunt

2001 ◽  
Vol 11 (4) ◽  
pp. 461-463
Author(s):  
A. J. Edwards ◽  
N. J. Ring ◽  
A. J. Marshall
Keyword(s):  
Pericardial Effusion ◽  
Septal Defect ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Right Heart ◽  
Alternative Strategies ◽  
Intracardiac Shunt

We describe a 31-year-old man with Down's syndrome who presented with severe chronic hypothyroidism and a massive pericardial effusion. Following partial aspiration of this effusion, he rapidly deteriorated and died. Findings at autopsy revealed him to have an atrioventricular septal defect with shunting at the atrial level. We postulate that, by releasing extrinsic pressure on his right heart by the aspiration, there was sudden shunting of blood from left-to-right, resulting in hypotension, shock, and subsequent death. We highlight the difficulties in management of such a case, and suggest alternative strategies.

Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome

2004 ◽  
Vol 78 (2) ◽  
pp. 666-672 ◽  
Author(s):  
Roberto Formigari ◽  
Roberto M Di Donato ◽  
Gaetano Gargiulo ◽  
Duccio Di Carlo ◽  
Cristiana Feltri ◽  
...  
Keyword(s):  
Septal Defect ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Complete Atrioventricular Septal Defect ◽  
Complete Atrioventricular
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