Objectives: There is still no agreement about the best method of dealing with malfunction of
the aortic valve caused by aneurysm or dissection of the aortic root. The experience …

Background To study biometric and structural ocular manifestations of Marfan syndrome
(MFS). Methods Observational, retrospective, comparative cohort study in a tertiary referral …

Purpose: To study ocular manifestations of Marfan syndrome in children and adolescents.
Methods: Retrospective comparative cohort study on consecutive patients up to age 17 …

Abstract Background Patients with Marfan syndrome are at risk for aortic enlargement and
are routinely monitored by computed tomography (CT) imaging. The purpose of this study is …

Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been
shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and …

Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with
prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and …

Background Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue
disorder, is characterised by systemic manifestations including arterial aneurysm and …

Motivation While the identification of small variants in panel sequencing data can be
considered a solved problem, the identification of larger, multi-exon copy number variants …

Patients with Marfan syndrome and related disorders are at risk for aortic dissection and
aortic rupture and therefore require appropriate monitoring. Computed tomography (CT) and …

Aims Subclinical diastolic dysfuntion in patients with preclinical heart failure with preserved
ejection fraction (HFpEF) has been demonstrated in patients with Marfan syndrome (MFS) …