2020 ESC Guidelines for the management of adult congenital heart disease: The Task Force for the management of adult congenital heart disease of the European …

H Baumgartner, J De Backer… - European heart …, 2021 - academic.oup.com
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 …

Features of Marfan syndrome not listed in the Ghent nosology–the dark side of the disease

Y von Kodolitsch, A Demolder… - Expert review of …, 2019 - Taylor & Francis
ABSTRACT Introduction: The revised Ghent nosology presents the classical features of
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …

[HTML][HTML] Comprehensive review of aortic aneurysms, dissections, and cardiovascular complications in connective tissue disorders

C Elendu, DC Amaechi, TC Elendu, JO Ibhiedu… - Medicine, 2023 - journals.lww.com
Connective tissue disorders, including Marfan syndrome (MS) and Ehlers-Danlos syndrome
(EDS), are characterized by genetic mutations affecting connective tissue structural integrity …

Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study

M Yao, Y Ma, R Qian, Y **a, C Yuan, G Bai… - Orphanet journal of rare …, 2021 - Springer
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 …

Longitudinal follow-up by MR angiography reveals progressive dilatation of the distal aorta after aortic root replacement in Marfan syndrome

A Lenz, M Warncke, F Wright, JM Weinrich… - European …, 2023 - Springer
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 …

Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study

D Benninghoven, D Hamann, Y von Kodolitsch… - Orphanet journal of rare …, 2017 - Springer
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 …

Guía ESC 2020 para el tratamiento de las cardiopatías congénitas del adulto

H Baumgartner, J De Backer… - Revista Española de …, 2021 - pure.qub.ac.uk
2020 ESC Guidelines for the management of adult congenital heart disease — Queen's
University Belfast Skip to main navigation Skip to search Skip to main content Queen's …

Improving medical care and prevention in adults with congenital heart disease—reflections on a global problem—part II: infective endocarditis, pulmonary …

R Neidenbach, K Niwa, O Oto… - Cardiovascular …, 2018 - pmc.ncbi.nlm.nih.gov
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 …

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant …

A Drackley, C Somerville, P Arnaud, LM Baudhuin… - Genome medicine, 2024 - Springer
Abstract Background In 2015, the American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant …

Reliability of non-contrast magnetic resonance angiography-derived aortic diameters in Marfan patients: comparison of inner vs. outer vessel wall measurements

JM Weinrich, M Avanesov, A Lenz, E Tahir… - … International Journal of …, 2020 - Springer
Aortic diameter measurements play a crucial role for the indication of aortic root surgery in
Marfan patients. However, for magnetic resonance angiography (MRA)-derived …