To detect in children with tetralogy of Fallot (ToF) the prevalence of associated cardiac anomalies in syndromic and isolated cases, the additional cardiac defects of 150 consecutive patients with ToF (102 isolated and 48 syndromic cases) were evaluated by review of echocardiographic, angiocardiographic, and surgical reports. Syndromic patients were classified into groups with branchial arch defects, Down syndrome, and other genetic conditions. ToF is significantly associated with additional cardiac malformations in patients with branchial arch (11 of 21, p <0.01) and Down (10 of 20, p <0.0001) syndromes. The subarterial ventricular septal defect with deficiency of the infundibular septum (4 of 21, p <0.01) and the right aortic arch (6 of 21, p <0.05) were prevalent in patients with branchial arch syndromes, whereas atrioventricular canal (10 of 20, p <0.0001) was associated with ToF in patients with Down syndrome. Peculiar anatomic cardiac patterns are present in children with ToF and may alert the cardiologist to look at additional cardiac anomalies. Moreover, the presence of some associated cardiac anomalies may suggest careful clinical evaluation for genetic syndromes.
Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134)
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery
Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype
Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects
Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot
The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study
Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database
Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart
Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice
Assessment of airway abnormalities in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications
22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system
Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot
Selection for presymptomatic testing for Huntington's disease: who decides? A reply from the Victorian Clinical Genetics Service, Murdoch Institute, Melbourne, Australia
Pulmonary ductal coarctation and left pulmonary artery interruption; pathology and role of neural crest and second heart field during development
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