Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.
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http://dx.doi.org/10.1038/gim.2014.11 | DOI Listing |
Eur J Vasc Endovasc Surg
January 2025
Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain; Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; Department of Vascular, Endovascular Surgery and Angiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:
Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.
Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.
Front Cardiovasc Med
January 2025
Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland.
Background: Loeys-Dietz syndrome (LDS) is a clinically and genetically heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. We present the case of a 16.5-year-old girl with LDS type 2 (LDS2) caused by a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
January 2025
Cardiology Department, CHU Saint-Pierre, Brussels, Belgium.
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
J Vasc Surg Cases Innov Tech
February 2025
Department of Cardiothoracic and Vascular Surgery, McGovern Medical School at UTHealth Houston, Houston, TX.
Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including mutations that cause Loeys-Dietz syndrome. McGovern Medical School at UTHealth Houston convenes a regular conference that includes cardiothoracic and vascular surgeons, cardiologists, geneticists, radiologists, and pathologists to formulate multidisciplinary approaches for the management of complex heritable thoracic aortic disease cases. In this report, we highlight the unique management of individuals with distinct presentations of Loeys-Dietz syndrome owing to mutations.
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