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

Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a
variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene …

Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-
threatening manifestations affecting the ascending aorta. MFS is caused by dominant …

Background Marfan syndrome (MFS) is a genetically determined systemic connective tissue
disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular …

While the topics of surgical techniques and medical therapies have been widely studied in
aortic dissection (AD), studies examining the short-and long-term impact of this event on …

Marfan syndrome (MFS) is a connective tissue disorder affecting the cardiovascular, ocular,
and skeletal system, which may be accompanied by psychological features. This study …

The purpose of this study was to explore the literature on quality of life (QoL) in patients with
hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome …

Introduction The international recommendations tend to avoid physical activity (PA) for
patients with Marfan syndrome (MFS). However, exceptions have recently been made in the …

The purpose of this article was to review the current literature on psychosocial implications
of Marfan syndrome (MFS) and its impact on adolescents, adults, their families and to …

Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations
in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected …