Genetic Syndromes with Cardiovascular Involvement

This is a vast group of conditions characterized by anomalies in various organs (nervous system, eye, skin, endocrine glands) associated with congenital heart diseases. These may be the first clinical sign (as in Noonan syndrome) or have a late onset (as in neurofibromatosis). In both cases, the presence of heart disease significantly affects the prognosis of the patients, and, therefore, it is essential to suspect this condition when evaluating a patient suffering from specific genetic diseases. These pathologies include: syndromes of Turner, Down, Williams, Marfan, Di George, Noonan, Ellis Van Creveld and Cornelia De Lange. Our group recently described, for the first time in the world, the association between type 1 neurofibromatosis and Brugada syndrome (Micaglio et al, 2019). Details on each of the conditions mentioned can be downloaded from the site https://www.orpha.net/consor/cgi-bin/index.php.