Review Article Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review Rizwan Iqbal 1 , Samiha Alom 2 , Jalal BinSaeid 3 and Amer Harky 3 Abstract Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys–Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys–Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys–Dietz syndrome is an auto- somal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys–Dietz syn- drome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emer- gencies which can be fatal. Loeys–Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys–Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies. Keywords Aorta, Loeys–Dietz, aortic pathology Introduction Loeys–Dietz syndrome (LDS) is an autosomal domi- nant genetic disorder, characterized by a variety of clin- ical manifestations, namely the triad of tortuous arteries and aortic aneurysms, hypertelorism, and a bifid uvula or cleft palate. 1 The syndrome lies on a continuum which highlights its varying clinical course amongst sufferers. Until recently, classification of LDS consisted of two types which was based on its corre- sponding gene mutation (TGFBR1 and TGFBR2, respectively). Type 1 LDS mainly leads to craniofacial anomalies whereas these are largely absent in type 2, the latter having a more cutaneous involvement caus- ing increased susceptibility to bruising, abnormal scar- ring, and transparent skin. 2 However, owing to the difficulty in ascertaining a subtype based on clinical features, the classification of the disease based on the type of gene mutation alone is a recommended approach. This classification has been updated to reflect the discovery of other genes which are detailed below. The presence of craniofacial features is linked to worsening aortic disease. 2 Due to this being predomi- nantly a disorder of connective tissue, skeletal abnor- malities such as craniosynostosis, scoliosis, pectus deformities, and talipes equinovarus are frequently observed. 1,3 Patients are also more likely to have ampli- fied immune responses leading to features of atopy and gastrointestinal inflammation. 4 However, the most 1 St John’s Hospital, Livingston, UK 2 School of Public Health, Imperial College London, London, UK 3 Department of Cardiothoracic Surgery, Liverpool Heart and Chest Hospital, Liverpool, UK Corresponding author: Amer Harky, Department of Cardiothoracic Surgery, Liverpool Heart and Chest Hospital, Liverpool, UK. Email: [email protected] Vascular 2021, Vol. 29(1) 3–14 ! The Author(s) 2020 Article reuse guidelines: sagepub.com/journals-permissions DOI: 10.1177/1708538120934582 journals.sagepub.com/home/vas
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