Many different heritable connective tissue disorders (HCTD) have been described over the
past decades. These syndromes often affect the connective tissue of various organ systems …

Cardiovascular screening in young athletes is widely recommended and routinely
performed prior to participation in competitive sports. While there is general agreement that …

Background Marfan syndrome is a genetic disorder with considerable morbidity and
mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional …

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal
dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important …

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

ABSTRACT Introduction: The revised Ghent nosology presents the classical features of
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …

Importance Mitral annular disjunction (MAD) has received particular interest in patients with
mitral valve prolapse, ventricular tachycardia, and sudden cardiac death. The clinical …

Клинические рекомендации Российского научного медицинского общества терапевтов
по диагностике, лечению и реабилитации пациентов с дисплазиями соединительной …

Background Marfan syndrome is associated with morbidity and mortality due to aortic
dilatation and dissection. Preventive aortic root replacement has been the standard …

Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan
involvement that requires optimal multidisciplinary care to normalize both prognosis and …