Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

[No abstract available

Deletion 22q11 and isolated congenital heart disease

The real prevalence of deletion 22 (del22) in isolated congenital heart defects is still disputed. The experience of our group suggests that patients with CHD and del22 have classic or subtle extracardiac features, so that an accurate clinical evaluation of patients with CHD is needed before stating that the defect is isolated. (c) 2007 Elsevier Ireland Ltd. All rights reserved

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

[No abstract available

Genetic prediction of common diseases. Still no help for the clinical diabetologist!

Genome-wide association studies (GWAS) have identified several loci associated with many common, multifactorial diseases which have been recently used to market genetic testing directly to the consumers. We here addressed the clinical utility of such GWAS-derived genetic information in predicting type 2 diabetes mellitus (T2DM) and coronary artery disease (CAD) in diabetic patients. In addition, the development of new statistical approaches, novel technologies of genome sequencing and ethical, legal and social aspects related to genetic testing have been also addressed. Available data clearly show that, similarly to what reported for most common diseases, genetic testing offered today by commercial companies cannot be used as predicting tools for T2DM and CAD. Further studies taking into account the complex interaction between genes as well as between genetic and non-genetic factors, including age, obesity and glycemic control which seem to modify genetic effects on the risk of T2DM and CAD, might mitigate such negative conclusions. Also, addressing the role of relatively rare variants by next generation sequencing may help identify novel and strong genetic markers with an important role in genetic prediction. Finally, statistical tools concentrated on reclassifying patients might be a useful application of genetic information for predicting many common diseases. By now, prediction of such diseases, including those of interest for the clinical diabetologist, have to be pursued by using traditional clinical markers which perform well and are not costly. (C) 2012 Elsevier B. V. All rights reserved

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

Objective: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). Study design: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. Results: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. Conclusion: Left- sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS

22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

The morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11 deletion phenotype features. J Cardiovasc Med 7:77-85 (C) 2006 Italian Federation of Cardiology