Paediatric Cardiology

Résumé fourni par la source

Congenital heart diseae (CHD) is any developmental malformation of the heart. The spectrum of disease falling into this classification ranges from simple lesions, for example bicuspid aortic valve through to more complex diseases involving single ventricle lesions such as hypoplastic left-heart syndrome. The underlying causes of CHD remains relatively poorly understood, although the epidemiology suggests a genetic basis contributing to the majority of CHD. Aneuploidies, e.g. Trisomy 21 (Down&s;s syndrome, septal defects) and monosomy X (Turner syndrome, bicuspid aortic valve and coarctation of the aorta) were the earliest identified causes and account for 10–20% of CHD. Copy number variations (small to large deletions or duplications) may also contribute to the development of CHD by altered dosage of genes; an example is 22q11 deletion which causes DiGeorge syndrome (interrupted aortic arch, tetralogy of Fallot, truncus arteriosus). Unfortunately, the cause of CHD in most patients remains unknown.

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