[Chromosome 22 (22q.11.2) deletion. Etiology of conotruncal heart abnormalities]

Important advances in the diagnosis and treatment of congenital heart disease (CHD) have been made in the past 50 years. Nowadays echocardiogram plays an important role in the diagnosis. This procedure is able to identify a wide range of malformations. Cardiac catheterization is mainly a therapeutic tool, surgery is now performed much earlier because CHDS are diagnosed sometimes before birth or very early in life. All this advances in the diagnosis and treatment of this group of patients, allows them not only a better quality of life but also the possibility of reaching adulthood and having children. The study of the etiology of CHD is a field that has not evolved as fast as the assessment and treatment. Nowadays we have a larger population of adults with CHD. The discovery of a microdeletion of chromosome 22 q11.2 associated with conotruncal cardiac defects, proves a common etiology for clinical phenotypes and conotruncal malformations. In order to identify, which of these patients share the same etiology and presented with this syndrome, we collected a group that shared not only heart defects of the conotruncal type but also specific phenotypic alterations such as broad nasal bridge, nasal dimple, high palate, and digitalization of the first finger among others. The first two patients studied with FISH technique were positive to monosomy of a locus on chromosome 22. Those patients with CHD of conotruncal type should undergo microdeletion testing so genetic counseling can be offered as well as appropriate treatment in areas such as cardiology and developmental psychology.