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Loeys Dietz syndrome Radiology

Loeys-Dietz syndrome Radiology Case Radiopaedia

  1. ant genetic syndrome which has many features similar to Marfan syndrome. This patient has a confirmed history of LDS. The syndrome is thought to have classical triad of: arterial tortuosity and aneurysms; hypertelorism; bifid uvula or cleft palat
  2. Background and purpose: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated
  3. ant connective tissue disorder with a wide spectrum of multisystem involvement, which predisposes individuals to aortic and systemic arterial aneu-rysms (1). LDS was first identified and characterized by pediatric ge-neticists Bart Loeys and Harry Dietz at John Hopkins University in 2005 (2)

Loeys-Dietz syndrome (LDS) is an autosomal dominant syndrome caused by mutations in genes encoding transforming growth factor beta receptor (TGFBR1 or TGFBR2) [ 1 ]. Marfan and Ehlers-Danlos syndromes share many features, including aortic and arterial aneurysms/dissections with pronounced tortuosity (corkscrew structure) of arteries [ 2 ] Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease Loeys-Dietz syndrome is a newly described phenotype caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-β (TGF-β) receptor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggressive vascular pathology OBJECTIVE: Loeys-Dietz syndrome is a newly described phenotype caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-beta (TGF-beta) receptor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggressive vascular pathology

Loeys-Dietz Syndrome with Ectatic Carotid Arteries - Neuro

On radiological imaging, many individuals show tortuous vessels, especially in the neck vessels. In the Loeys-Dietz syndrome, tortuous vessels are not bad vessels or vessels predisposed to aneurysm/tear, but they provide a diagnostic clue to suspect the diagnosis Recently, in 2005, Loeys et al Reference Loeys, Chen and Neptune 1 discovered a new syndrome that shares many features with Marfan syndrome, and the mutations that produce the newly coined Loeys-Dietz syndrome were identified. It is caused by heterozygous mutations in the genes encoding the citokine family transforming growth factor, resulting in loss of activity in the transforming growth factor receptors-β types 1 and 2 Loeys-Dietz syndrome is a newly desc ribed phenotype caused by heterozy-gous mutations in the genes encoding type I or II transforming growth factor- β (TGF- β) recep-tor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggre ssive vascular pathology Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010; 25: 546- 551. Crossref Medline Google Scholar; 3. Valverde I, Simpson J, Beerbaum P. Magnetic resonance imaging findings in Loeys-Dietz syndrome. Cardiol Young. 2010; 20: 210- 213. Crossref Medline Google Scholar; 4. Loeys BL. Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity and.

Neuroradiologic manifestations of Loeys-Dietz syndrome type

Cardiovascular Manifestations and Complications of Loeys

What is Loeys-Dietz syndrome? Loeys-Dietz syndrome is a rare genetic disorder (from a gene mutation or an inherited abnormality from one parent) that negatively affects the formation of a child's connective tissue (the fibers, ground substance and cells immersed in body water) that surrounds, supports and protects all tissues and organs of the body Each person with Loeys-Dietz syndrome will not have every feature listed in the Head-To-Toe factsheet and this list is not all-inclusive of features described in LDS. In all cases, the LDSF recommends that you consult your own physician regarding any questions about diagnosis, management or treatment Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita

Patients with the connective tissue disorder Loeys-Dietz syndrome (LDS) are at high risk for aortic aneurysm. LDS results in the presence of missense mutations within either of the genes encoding receptors for TGF-β The Loeys-Dietz Syndrome Foundation is dedicated to improving patient health and transforming medicine to ensure healthier futures. Here, you will find more about special-based research and clinical studies. We hope to bring significant improvements to the quality of clinical care Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Loeys-Dietz Syndrome

Loeys-Dietz syndrome - Pediatric Radiolog

Activation of TGF-β signaling in an aortic aneurysm in a

  1. Dietz, with Dr Bart L Loeys (Ghent University Hospital, Belgium) and colleagues, first described Loeys-Dietz syndrome in 2005, noting that some of its physical traits are similar to that of Marfan.
  2. ORIGINAL RESEARCH Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1 V.J. Rodrigues S. Elsayed B.L. Loeys H.C. Dietz D.M. Yousem BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate
  3. Fig. 10.3 Tortuous aorta and vertebral arteries (VA) in a 4-year-old patient with Loeys-Dietz syndrome. The contour of the ascending and descending aorta (arrows) seen on a frontal chest radiograph is well correlated with that seen on a contrast-enhanced magnetic resonance angiogram.Left-to-right shunt lesions at the great arterial level also cause dilatation of the ascending aorta
  4. 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.
  5. ant condition due to mutation in TGRBR2 gene leading to the loss of elastin content in the tunica media of the arterial walls. Although the exact prevalence is unknown, pulmonary artery dilatation is usually seen in Loeys-Dietz syndrome in patients with additional congenital cardiac shunts

D - Down syndrome. A - Abdominal aortic aneurysm. L - Lymph nodes (Tuberculosis, Chronic leukemia, Lymphoma) POSTERIOR VERTEBRAL SCALLOPING (mnemonic = SALMON) S - Spinal cord tumors like schwannoma, astrocytoma. A - Achondroplasia, acromegaly. L - Loeys-Dietz syndrome. M - Mucopolysaccharidosis, Marfan syndrome. O - OI. Loeys-Dietz Syndrome - 1 min. Marfan's Syndrome - 1 min. Carotid Space Infections - 5 min. Causes of IJV Thrombosis - 5 min. MRI Online is a premium online continuing education resource for practicing radiologists to expand their radiology expertise across all modalities, read a wide variety of cases, and become a more accurate, confident. [10] Kono AK, Higashi M, Morisaki H, et al. (2010) High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome. Jpn J Radiol 28(4):273-277 (PMID: 20512544

Their most recent publication is 'Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: A case report'. Skills and Expertise Radiology Loeys-Dietz syndrome. Abstract. Pediatr Radiol (2009) 39:1015 DOI 10.1007/s00247-009-1252-3 CLINICAL IMAGE Ajay Malhotra & Per-Lennart Westesson Received: 21 October 2008 /Revised: 23 February 2009 /Accepted: 6 March 2009 /Published online: 27 May 2009 Springer-Verlag 2009 A 3-month-old boy presented with respiratory tract infec- tion and was found to have a posterior mediastinal mass on chest. Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder first described in 2005. The most morbid sequalae of LDS are aortic aneurysm and dissection (Loeys et al. 2006). The Bentall operation involves a mechanical aortic valve replacement with a composite aortic graft, and remains first line treatment for enlarging aortic root aneurysms (Bentall and De Bono 1968) Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. The disorder was first observed and described by Dr. Bart Loeys and Dr. Hal Dietz at the Johns Hopkins University School of Medicine in 2005. Since then, other groups around the world have described additional genetic causes of Loeys-Dietz syndrome

Loeys-Dietz Syndrome: MDCT Angiography Findings : American

The Department of Clinical Radiology, Ludwig Maximilians University, Klinikum Grosshadern, Munich, Germany. and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals. Loeys-Dietz syndrome (LDS) is an aggressive connective tissue disorder associated with increased risk of aortic dissection and aneurysm rupture at an early age and smaller aortic diameters. We report our experience with LDS to better understand its natural history and treatment outcomes and help establish treatment guidelines Loeys-Dietz syndrome is a rare autosomal dominant condition which was first described in 2005, and is associated with aneurysm formation or dissection of the aorta or other arteries, often at a young age. It was identified in individuals referred for investigation for Marfan syndrome or vascular Ehlers-Danlos syndrome, who lacked some of. Loeys-Dietz syndrome (LDS) (OMIM #609192) is a recently described autosomal dominant disorder that is caused by mutations in TGFBR1 or TGFBR2 (transforming growth factor β [TGF-β]-receptor) genes. 1,2 Patients with LDS have widespread manifestions that may include arterial tortuosity, aortic aneurysms and dissections, craniosynostosis, hypertelorism, cleft lip, cleft palate, bifid uvula.

Loeys-Dietz Syndrome with Aneurysms of the Left Subclavian

Loeys-Dietz syndrome: MDCT angiography findings

  1. MATERIALS AND METHODS: We retrospectively reviewed all patients who had a clinical diagnosis of Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis type 1, or Loeys-Dietz syndrome who underwent MRA, CTA, and/or DSA imaging of th
  2. ant aortic aneurysm syndrome characterized by the triad of hypertelorism, bifid uvula/cleft palate, and arterial tortuosity with ascending aortic aneurysm/dissection which was initially described in 10 families [Loeys-Dietz syndrome (LDS); MIM 609192] (Loeys et al., 2005). It is associated with multiple other findings, including craniosynostosis.
  3. Loeys-Dietz syndrome (LDS) is a systemic connective tissue disorder caused by mutations in the TGFBR1 or TGFBR2 genes (also available as part of the 16 gene Marfan syndrome/TAAD sequencing panel).The skeletal features of Loeys-Dietz syndrome, such as joint laxity, arachnodactyly, pectus deformity, and scoliosis, can overlap with the Marfan.
  4. g growth factor.
Major clinical features of Loeys-Dietz syndrome (LDS) type

Loeys-Dietz Syndrome Johns Hopkins Medicin

Loeys-Dietz syndrome has only recently been characterized as a distinct phenotype that is caused by mutations in genes encoding type 1 or type 2 transforming growth factor β. 11 Aneurysms form at an earlier age than in other connective tissue disorders and tend to rupture at a smaller size, with a greater propensity for dissection. The. Loeys-Dietz syndrome Marinos Kontzialis 1, Gokhan Kuyumcu 1, Carlos A Zamora 2 1 Department of Diagnostic Radiology, Division of Neuroradiology, Rush University Medical Center, Chicago, IL, USA 2 Division of Neuroradiology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, US Loeys-Dietz syndrome is a genetic disorder that affects the connective tissue. The connective tissue is important for providing strength and flexibility to the bones, ligaments, muscles, and blood.

Can Loeys-Dietz syndrome justify the pathologies in Akhenaten and his family? Different syndromes and diseases have been hypothesised to explain a probable underlying disease in Akhenaten, Tutankhamun and 18th dynasty royalty. Marfan syndrome was suspected owing to the marfanoid features of Akhenaten and his family in statues Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder first described in 2005. The most morbid sequalae of LDS are aortic aneurysm and dissection (Loeys et al. 2006). The Bentall operation involves a mechanical aortic valve replacement with a composite aortic graft, and remains first line treatment for enlarging aortic roo CASE REPORT Endovascular treatment of intracranial aneurysms in LoeyseDietz syndrome Michael R Levitt,1 Ryan P Morton,1 Jeffrey C Mai,1 Basavaraj Ghodke,2 Danial K Hallam2 ABSTRACT Background LoeyseDietz syndrome (LDS) is a Introduction. Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by extensive arterial aneurysms as well as other phenotypic phenomena.1 The mutation linked to LDS is a missense in transforming growth factor β receptor (TGFβR) type I or II, which has downstream effects on elastin production and vascular structural integrity.2 The neurological. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys-Dietz syndrome, although it may help identify families for further diagnostic.

Some individuals with TGFBR1 or TGFBR2 mutations have clinical features consistent with MFS, while others have features of one of two other syndromes: Loeys-Dietz syndrome (LDS) or familial thoracic aortic aneurysm (FTAA) syndrome. Epidemiology. Approximately 1 in every 3000 to 5000 individuals is affected Objective This study aimed to determine if carotid arterial tortuosity represents a marker of disease severity in Loeys-Dietz syndrome (LDS). Methods Fifty-four 54 LDS patients (mean age, 17.0 years) who underwent computed tomogram angiography from January 2004 to December 2013 were retrospectively identified Loeys-Dietz syndrome Radiology Reference Article . Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers-Danlos syndrome.[2][3][4] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the. Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, et al. (2017) Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 6: 582-594. Mccallen AM, Schaff B (1956) Aneurysm of an anomalous right subclavian artery. Radiology 66: 561-563 Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome.Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.In Loeys-Dietz syndrome, the

Magnetic resonance imaging findings in Loeys-Dietz syndrom

  1. For case-matched comparison we used 83 age and sex-frequency matched individuals with Marfan syndrome. Results: In Loeys-Dietz compared to Marfan syndrome, a patent ductus arteriosus (p = 0.014) was more prevalent, the craniofacial score was higher (p < 0.001), the systemic score lower (p < 0.001), and mitral valve prolapse less frequent (p = 0.
  2. al surgeries presents with 1-year history of increasingly severe, intermittent, abdo
  3. Meester-Loeys Syndrome. Search For A Disorder. Clinical Characteristics Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and.
  4. ant vererbte Krankheit, die als wichtigste Differenzialdiagnose des Marfan- Loeys-Dietz Syndrome, Adv Exp Med Biol. 2014;802:95‐105, abgerufen am 26.05.2020.
  5. The 2010 American College of Cardiology/American Heart Association/American Association for Thoracic Surgery (ACC/AHA/AATS) guidelines for thoracic aortic disease include recommendations for MFS, Loeys-Dietz Syndrome and other genetic syndromes affecting the aorta

Loeys-Dietz Syndrome: MDCTAngiography Finding

Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome.Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller. Dr. Hal Dietz, Victor A. McKusick Professor of Institute of Genetic Medicine and Professor of Pediatrics and Investigator of Howard Hughes Medical Institute at The Johns Hopkins Hospital and Chair of the Loeys-Dietz Syndrome Foundation Medical Advisory Council (MAC), presents Research Update on Loeys-Dietz Syndrome at the 2012 LDSF Conference in Baltimore, Maryland, USA. Dr. Dietz.

More pediatric radiology resources at PediatricRadiology.com Pediatric Imaging is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License . Follow Pediatric Imaging via Emai We describe a boy with Loeys-Dietz syndrome (LDS) a genetic and recently described condition that affects connective tissues belonging to a group of Marfan-related disorders. Since there are only a few cases reported misdiagnosis may not be uncommon

A 3-year-old boy being followed up for bilateral club foot underwent a routine thorax radiography that revealed aortic arch enlargement. Echocardiography showed sinus of Valsalva dilatation. Because of clinical features such as hypertelorism, bifid uvula, and prominent forehead, a genetic investigation was conducted that confirmed Loeys-Dietz syndrome (LDS) by identifying a heterozygous. syndrome, previously one of the major criteria in the Ghent nosology (1-5). In the recently revised Ghent no-sology, dural ectasia is given a systemic score of 2 out of 3. A sensitive but nonspecific sign of the Marfan syndrome, dural ectasia also occurs in patients with Loeys-Dietz syn-drome and the vascular form of Ehlers-Danlos syndrome (6)

The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract. Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol. 2009; 30:1614-1619. Crossref Medline Google Scholar; 6. Kondo M, Itoh S, Nagano K, Namba M, Kondo M, Imai T, Onishi S. A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities. syndrome was the most common, accounting for 47% of genetic diagnoses (2% of all 492 patients), followed by Marfan (21%), vascular Ehlers-Danlos (11%) and Loeys-Dietz syndromes (11%). Alpha1-antitrypsin deficiency and tuberous sclerosis were more uncommon (5%). We did not observe signifi-cant changes in rates of diagnosis over time Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype.

Imaging Findings in a Child With Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection The causative mechanism leading to AV is unclear. It can present as an isolated skin manifestation, or AV can be part of other conditions including genetic disorders. 1 Herein we report the association of AV with TGFBR2-related Loeys-Dietz syndrome (LDS) Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene Esra Kılıç1, Yasemin Alanay1, Eda Ütine1, Burçe Özgen-Mocan2, Peter N. Robinson3, Koray Boduroğlu1 1Divison of Clinical Genetics, Department of Pediatrics, and 2Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3Charité. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Mine Arslan-Kirchner, Joerg T. Epplen, Laurence Faivre, Guillaume Jondeau, Joerg Schmidtke, Anne De Paepe, Bart Loeys> ;European Journal of Human Genetics. 2011 Apr 2

Introduction. Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder of the connective tissue that was described in 2005 ().Patients with mutations in the TGFBR1, TGFBR2, TGFB2, TGFB3, and SMAD3 genes were noted to present with phenotypical features of LDS. LDS affects tissues and organs throughout the body, especially the great arteries We present the case of a pregnant patient with Loeys-Dietz syndrome who was evaluated with CT angiography to rule out an acute aortic syndrome. The CT data from the fetus and placenta were reconstructed using the new cinematic rendering technique that allows for photorealistic display Additional physical examination findings were notable for a bifid uvula and normal palate. A transforming growth factor beta (TGF-β) spectrum disorder was suspected and a c.1363T>A mutation in the TGFβR2 gene consistent with the diagnosis of Loeys Dietz syndrome (LDS) was confirmed on sequencing Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by their genetic cause Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder notable for rapidly progressive vascular aneurysmal disease and craniofacial defects. Patients are at an increased risk for aneurysm rupture and dissection at younger ages compared to other aneurysmal syndromes. Early surgical intervention is important for prevention of ruptures and/or dissection

Loeys-Dietz syndrome (LDS) LDS is an autosomal dominant inherited disorder, associated with mutations in genes related to TGF-b signaling. It is characterized by Marfanoid habitus, hypertelorism, bifid uvula or cleft palate, arterial tortuosity, and multiple arterial aneurysms, including aortic aneurysms Hernia patients with connective tissue disorders, like Marfan syndrome or Loeys-Dietz syndrome, are in a delicate situation, because their tissues tend to be weak, and their bodies typically heal slowly. This group doesn't do as well with the same procedures we offer everyone for hernias, says acute care surgeon David Efron

Aorta and Systemic Veins | Radiology KeySINUS OF VALSALVA ANEURYSMGenetics of Marfan Syndrome Clinical Presentation: HistoryThoracic Aortic Aneurysms | Radiology Key

Loeys-Dietz syndrome (LDS; Online Mendelian Inheritance in Man number 614816) is a rare autosomal dominant connective tissue disorder 1 most commonly caused by mutations in transforming growth factor receptors 1/2 (TGFBR1/2), 2,3 as well as in decapentaplegic homolog 2/3 (SMAD2/3) and transforming growth factor ligand 2/3 (TGFB2/3). 3 Initially described as a triad of arterial tortuosity. The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused by mutations in genes of the TGF-β signaling pathway: TGFBR1 and TGFBR2 encoding the TGF-β receptor (LDS1 and LDS2), SMAD3 encoding the TGF-β receptor cytoplasmic effector (LDS3), and. Diameter >4.2 cm by echo (>4.4 to 4.6 cm by CT or MRI) in asymptomatic Loeys-Dietz Syndrome; Diameter >4 cm in asymptomatic Marfan Syndrome patient desiring pregnancy; Diameter >4 to 5 cm in asymptomatic Marfan Syndrome patient. Especially if Family History of Aortic Dissection, increase in ascending aortic diameter >0.5 cm/yea Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome which is caused by a mutation of genes encoding for transforming growth factor-beta signaling pathway TGFBR1, TGFBR2, SMAD3, and TGFB2. LDS is primarily a connective tissue disorder distinguished by cardiovascular, craniofacial, and skeletal defects. Hallmark findings of LD Marfan syndrome: This syndrome affects connective tissue and causes signs and symptoms in the skeleton, eyes, heart valves, lungs and aorta. Loeys-Dietz syndrome: This disorder is similar to Marfan, causing a wide range of signs and symptoms in the skeleton, skin, blood vessels and aorta