Force. The finalized document is approved by the CPG for publication in the European Heart
Journal. The Guidelines were developed after careful consideration of the scientific and …

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

Connective tissue disorders, including Marfan syndrome (MS) and Ehlers-Danlos syndrome
(EDS), are characterized by genetic mutations affecting connective tissue structural integrity …

Background Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron
disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of …

Objectives To define and compare growth rates of the distal aorta in Marfan patients with
and without aortic root replacement using serial MR angiography (MRA). Methods We …

Background Advances in medical, interventional and surgical treatment have increased
average life expectancy of patients with congenital heart defects. As a result a new group of …

Purpose To develop guidelines for ocular surveillance and early intervention for individuals
with von Hippel-Lindau (VHL) disease. Design Systematic review of the literature …

Despite relevant residua and sequels, follow-up care of adults with congenital heart disease
(ACHD) is too often not performed by/in specialized and/or certified physicians or centers …

Aim of the study: Many patients with an anorectal malformation (ARM) or pelvic anomaly
have associated urologic or gynecologic problems. We hypothesized that our …

Hintergrund Genetische Aortenerkrankungen wie das Marfan-oder Loeys-Dietz-Syndrom
umfassen ein relativ kleines, jedoch wichtiges kardiovaskuläres Patientenkollektiv. Die …