FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

2013 ◽  
Vol 23 (5) ◽  
pp. 697-704 ◽  
Author(s):  
Daniela Laux ◽  
Valérie Malan ◽  
Fanny Bajolle ◽  
Younes Boudjemline ◽  
Jeanne Amiel ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Cluster ◽  
Reciprocal Translocation ◽  
Congenital Heart ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Left Heart ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

AbstractObjectiveThe objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2.MethodsWe retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease.ResultsTwo infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients.DiscussionGenetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

237: CONGENITAL HEART DISEASE AND ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS

2018 ◽  
Vol 46 (1) ◽  
pp. 101-101
Author(s):  
Katharine Robb ◽  
Sook-kyung Kwon ◽  
Veerajalandhar Allareddy ◽  
Aditya Badheka
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

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.

Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease

1999 ◽  
Vol 84 (5) ◽  
pp. 618-620 ◽  
Author(s):  
John R Lane ◽  
Ernest Siwik ◽  
Tamar Preminger ◽  
Eileen Stork ◽  
Michael Spector
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

scholarly journals Down Syndrome and Congenital Heart Disease: Single centre, Prospective Study

2013 ◽  
Vol 2 (2) ◽  
pp. 96-101 ◽  
Author(s):  
Maniah Shrestha ◽  
U Shrestha
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prospective Study ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Atrioventricular Septal Defect ◽  
Children With Down Syndrome

Background: The objective of this study was to evaluate the children with down syndrome regarding the frequency and types of congenital heart disease and associated pulmonary hypertension. Method: A prospective study was carried out to all the children with down syndrome visited in pediatric outpatient department over the period of one year. Necessary data were recorded in preformed format. Results: Fifty children with down syndrome were evaluated. Forty (80%) had an associated congenital heart disease. The median age at diagnosis was 2 years (range = 4 days to 12 years). In 26 patients (65%), the cardiac lesion was isolated, while 14 patients (35%) had multiple defects. The most common single defect was ventricular septal defect (VSD), found in 9 of the 40 patients (22.5%), followed by atrioventricular septal defect (AVSD) in 15%, atrial septal defect (ASD) and patent ductus arteriosus (PDA) each in 10%. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was PDA (15%). Pulmonary hypertension was found in 21 of 40 patients (52.5%) and AVSD was most frequently associated with pulmonary hypertension. Conclusion: Congenital heart disease is very common in patient with down syndrome. VSD is the most common cardiac defect and AVSD is second to VSD. Patient with down syndrome with CHD frequently develop pulmonary hypertension at younger age hence early cardiac screening by echocardiography in these patients is crucial. Early diagnosis and management is the key to avoid irreversible hemodynamic consequences of the defect. Nepal Journal of Medical Sciences | Volume 02 | Number 02 | July-December 2013 | Page 96-101 DOI: http://dx.doi.org/10.3126/njms.v2i2.8944

scholarly journals Infective endocarditis of partial atrioventricular septal defect: A case report

2020 ◽  
Vol 77 (6) ◽  
pp. 657-660
Author(s):  
Maja Stefanovic ◽  
Ilija Srdanovic ◽  
Aleksandra Milovancev ◽  
Stamenko Susak ◽  
Snezana Tadic ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Infective Endocarditis ◽  
Right Ventricle ◽  
Tricuspid Valve ◽  
Congenital Heart ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Mitral Leaflet

Introduction. Partial atrioventricular septal defect (AVSD) is a form of congenital heart disease (CHD) rarely detected in adults. Infective endocarditis represents a severe complication that carries a substantial risk. Case report. We here reported a case of a 43-year-old female with previously diagnosed adult CHD (partial AVSD and bicuspid aortic valve) presented to the hospital with fever and malaise 14 days prior to admission. On the lung computed tomography scan inflammatory consolidations were found and dual antibiotic therapy (ceftazidime and clarithromycin) was administered without significant regression of pulmonary inflammatory consolidations. The antibiotic treatment was continued with amoxicillin/clavulanic acid combined with levofloxacin and metronidazole. Transthoracic and transesophageal echocardiography revealed a large vegetation (dimension, 3.6 x 1.8 cm) attached to the septal leaflet of the tricuspid valve floating between right atrium and right ventricle through tricuspid valve with high embolic potential. Endocarditis team reached a decision for immediate surgical intervention. The operative findings revealed the partial AVSD, common atrioventricular valve with cleft of the anterior mitral leaflet in the A2 segment and detached and cleft septal leaflet of the tricuspid valve. Vegetation (size 4 x 3 cm) was attached to the septal side of the tricuspid annulus, basal segment of the anterior mitral leaflet and edge of the atrial septal defect freely floating between right atrium, right ventricle and left atrium. Excision of the vegetation and AVSD plastics were done, as well as the reconstruction of the mitral and tricuspid annuli and leaflets. The treatment was continued with antibiotics and completed in 18 days with full recovery. Conclusion. Early and precious diagnosis and optimal management that combines both conventional and surgical approaches are crucial for reducing the risk of complications and mortality in patients with infective endocarditis in grown-up congenital heart disease.

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