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Molecular phenotype of right ventricular hypertrophy in human tetralogy of Fallot

Abstract

In 1888 the French physician Etienne-Louis Arthur Fallot described a “tetrad” of congenital anatomical defects in a heart, which are now collectively referred to as tetralogy of Fallot (TF). TF is characterized by a (sub)valvular pulmonary stenosis, a ventricular septal defect (VSD), dextroposition of the aorta (overriding the VSD) and concomitant right ventricular hypertrophy (RVH) (Fig. 1.1). The right ventricular (RV) outflowtract obstruction can be more or less severe, depending on the degree of malformation as well as the extent of RVH. With an incidence of 1 per 2000 newborns TF is a frequent cyanotic congenital heart malformation

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