keyword
https://read.qxmd.com/read/37994137/-clinical-and-genetic-analysis-of-a-patient-with-loeys-dietz-syndrome-due-to-variant-of-tgfbr2-gene
#21
JOURNAL ARTICLE
Yueli Wang, Zhihua Kong, Long Wan, Aoxue Wang, Xiaoyan Li
OBJECTIVE: To explore the genetic basis of a patient with clinically suspected Loeys-Dietz syndrome (LDS). METHODS: A child who had presented at Beijing Anzhen Hospital in September 2018 was selected as the study subject. Clinical data and family history of the patient were collected, along with peripheral blood samples of the proband and his parents. Whole exome sequencing (WES) was carried out through next-generation sequencing. RESULTS: Candidate variants were searched through bioinformatic analysis focusing on genes associated with hereditary aortic aneurysms...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37970529/unexplained-cardiovascular-collapse-after-scoliosis-surgery-in-a-patient-with-loeys-dietz-syndrome
#22
Abdulrahman Al Ghamdi, Marina Mir Parramón, Tíscar Cavallé-Garrido
No abstract text is available yet for this article.
April 2023: CJC Pediatr Congenit Heart Dis
https://read.qxmd.com/read/37948688/natural-history-and-growth-rate-of-intracranial-aneurysms-in-loeys-dietz-syndrome-implications-for-treatment
#23
JOURNAL ARTICLE
Anna L Huguenard, Gabrielle W Johnson, Joshua W Osbun, Ralph G Dacey, Alan C Braverman
OBJECTIVE: Loeys-Dietz syndrome (LDS) is a heritable aortopathy associated with craniofacial abnormalities and dilatation and dissection of the aorta and its branches, as well as increased risk for intracranial aneurysms (ICAs). Given the rarity of the disease, the authors aimed to better define the natural history and role for the treatment for ICAs in these patients. METHODS: The medical records of 83 patients with LDS were retrospectively reviewed to obtain clinical and genetic history and vascular imaging of the aorta, aortic branches, and intracranial vessels...
November 10, 2023: Journal of Neurosurgery
https://read.qxmd.com/read/37947469/-depressive-and-anxiety-symptoms-in-hereditary-connective-tissue-disorders%C3%A2-case-description-and-systematic-literature-review
#24
JOURNAL ARTICLE
M Vanwesemael, M Danckaerts, S Schevenels, W Schevenels, F Martens
Hereditary connective tissue disorders are a broad group of congenital disorders that are characterized by a pathological weakness of the connective tissue as a result of an incorrect genesis, leading to multisystem complaints. We describe a 14-year-old patient with the hereditary connective tissue disorder Loeys-Dietz syndrome who was admitted to a child psychiatric crisis unit because of depressive and anxiety symptoms. A systematic literature search was carried out to analyze the prevalence of depressive and anxiety symptoms in individuals with hereditary connective tissue disorders Loeys-Dietz syndrome, Ehlers-Danlos syndrome and Marfan syndrome, to identify a possible association between these disorders and explanations for this...
2023: Tijdschrift Voor Psychiatrie
https://read.qxmd.com/read/37936231/iatrogenic-aortic-dissection-during-aortic-root-replacement-in-an-older-loeys-dietz-syndrome-type-iii-patient-with-no-family-history-of-aortic-disease-a-case-report
#25
JOURNAL ARTICLE
Kenichi Kato, Ken Nakamura, Kaho Kato, Shusuke Arai, Shuto Hirooka, Cholsu Kim, Hideaki Uchino, Takao Shimanuki
BACKGROUND: Iatrogenic aortic dissection during cardiac surgery is a rare but critical complication. At present, no strategies have been developed to prevent it. We herein report a case of intraoperative aortic dissection during aortic root replacement in an older patient with Loeys-Dietz syndrome type III who had no family history of aortic disease. CASE PRESENTATION: A 60-year-old man was admitted to the hospital for Stanford type B acute aortic dissection and given conservative treatment...
November 8, 2023: Journal of Cardiothoracic Surgery
https://read.qxmd.com/read/37916856/arterial-tortuosity-in-pediatric-loeys-dietz-syndrome-patients
#26
JOURNAL ARTICLE
Laia Brunet-Garcia, Pirasuja Prabaharan, Luc Bruyndonckx, Ella Field, Felice D'Arco, Claudio Capelli, Elena Cervi
Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. The aim of the present study was to investigate differences in tortuosity index (TI) between genotypes of LDS, possible progression over time and its use as an adjunctive prognostic tool alongside aortic dimensions to aid timely surgical planning in pediatric patients. A retrospective observational study of pediatric LDS patients referred to our center (November 2012-February 2021) was conducted...
November 2, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37916129/recurrent-infective-endocarditis-in-an-adolescent-due-to-streptococcus-agalactiae-a-rare-presentation-of-a-common-pathogen
#27
Noora Al Busaidi, Amal Al-Maani, Abdullah Al Farqani, Nuha Altahir, Amina Al Jardani
Streptococcus agalactiae is known to cause invasive infections in risk groups such as pregnant women, newborns, and immunosuppressed patients but it is uncommon in older children. We describe a case of recurrent infective endocarditis due to S. agalactiae in an 11-year-old boy with Loeys-Dietz syndrome who was successfully treated with long-term antimicrobial therapy for one year.
September 2023: Oman Medical Journal
https://read.qxmd.com/read/37890658/valve-sparing-root-replacement-in-children-with-connective-tissue-disease-long-term-risk-of-aortic-events
#28
JOURNAL ARTICLE
Ilkun Park, Ji-Hyuk Yang, Kiick Sung, Tae-Gook Jun, I-Seok Kang, June Huh, Jin Young Song, Pyo Won Park
BACKGROUND: Cardiovascular involvement in pediatric patients with connective tissue disease (CTD) is life-threatening, with aortic root dilatation being the most prevalent cardiovascular abnormality. We attempted to determine long-term outcomes of valve-sparing root replacement (VSRR) in this group, including cardiovascular reoperations for aortic aneurysm and dissection. METHODS: We conducted a retrospective analysis of pediatric patients with CTD, who received VSRR in a single center from 2002 to 2021...
October 25, 2023: Journal of Thoracic and Cardiovascular Surgery
https://read.qxmd.com/read/37876949/pediatric-bentall-procedure-for-giant-ascending-aortic-aneurysm-in-loeys-dietz-syndrome
#29
Hüseyin Sicim, Ali Ertan Ulucan, Okan Yurdakök, Numan Ali Aydemir
Ascending aortic aneurysm is very rare in children, and is usually seen in patients with underlying connective tissue disorders such as Marfans and Ehler-Danlos syndrome. Loeys-Dietz syndrome (LDS) is less commonly seen as a cause of ascending aortic aneurysms in children. In this case report, we describe pediatric Bentall procedure, which we successfully performed to a child with LDS (Type I) with giant ascending aortic enlargement and significant aortic regurgitation.
2023: Annals of Pediatric Cardiology
https://read.qxmd.com/read/37870406/spondyloptosis-in-loeys-dietz-syndrome
#30
Mary E Lynch, Joline E Brandenburg, Cody A Pepperday, Melanie J White
No abstract text is available yet for this article.
October 23, 2023: PM & R: the Journal of Injury, Function, and Rehabilitation
https://read.qxmd.com/read/37864304/a-novel-pathogenic-variant-located-just-upstream-of-the-c-terminal-ser423-x-ser425-phosphorylation-motif-in-smad3-causing-loeys-dietz-syndrome
#31
JOURNAL ARTICLE
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro
OBJECTIVE: Loeys-Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss-of-function variants of genes that encode components of transforming growth factor-β (TGF-β) signaling; nevertheless, LDS type 1/2 caused by TGFBR1/2 pathogenic variants is frequently found to have paradoxical increases in TGF-β signaling in the aneurysmal aortic wall. Here, we present a Japanese LDS family having a novel SMAD3 variant...
October 20, 2023: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/37823753/cardiovascular-involvement-and-prognosis-in-loeys-dietz-syndrome
#32
JOURNAL ARTICLE
Przemysław Chmielewski, Joanna K Ponińska, Ewa Michalak, Ilona Michałowska, Ilona Kowalik, Grażyna Truszkowska, Monika Kugaudo, Ilona Minota, Piotr Stawiński, Rafał Płoski, Zofia T Bilińska
BACKGROUND: Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder associated with aortic root enlargement and risk of thoracic aortic dissection (AD). Genetic examination is essential for diagnosis. AIMS: Analysis of clinical data on cardiovascular involvement and management of LDS patients. METHODS: The study included carriers of LDS-associated genetic variants, identified between 2012 and 2022. Assessment of cardiovascular involvement was based on echocardiography and computed tomography angiography with quantitative assessment of arterial tortuosity...
October 12, 2023: Kardiologia Polska
https://read.qxmd.com/read/37813462/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome
#33
JOURNAL ARTICLE
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti Ghali, Angela F Brady, F Michael Pope, Fleur S van Dijk, Heather J Cordell, Timothy J Aitman
BACKGROUND: The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. METHODS: Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service for complex EDS and a specialist clinic for hEDS. Patients had already undergone expert phenotyping, laboratory investigation and gene sequencing, but were without a genetic diagnosis...
February 21, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/37808051/patterns-of-genetic-mutations-explored-by-systematic-screening-of-patients-with-aortopathy-and-their-family-members
#34
JOURNAL ARTICLE
Jihoon Kim, Jae Suk Yoo, Hee-Jung Kim, Ho Jin Kim, Dae-Hee Kim, Suk Jung Choo, Joon Bum Kim
OBJECTIVE: Genetic aortopathy, if left untreated, leads to aortic catastrophe in most affected individuals. We sought to determine the genetic mutation patterns and detection rates in patients with aortopathy and their families with a systematic screening protocol. METHODS: In 2016 to 2020, patients with aortic dissection or root aneurysm (Z score ≥2) and their first-degree relatives were enrolled in a prospective registry at a tertiary referral center...
September 2023: JTCVS open
https://read.qxmd.com/read/37776192/vertebral-tortuosity-is-associated-with-increased-rate-of-cardiovascular-events-in-vascular-ehlers-danlos-syndrome
#35
JOURNAL ARTICLE
Sara B Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T Doan, Siddharth K Prakash, Justin D Weigand, Federico M Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A LeMaire, Richard B Devereux, Reed E Pyeritz, Kathryn W Holmes, Mary J Roman, Ronald V Lacro, Ralph V Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M Milewicz, Shaine A Morris
Background Arterial tortuosity is associated with adverse events in Marfan and Loeys-Dietz syndromes but remains understudied in Vascular Ehlers-Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age <50 years were included from 2 institutions and the GenTAC Registry (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions). Height-adjusted vertebral artery tortuosity index (VTI-h) using magnetic resonance or computed tomography angiography was calculated...
September 30, 2023: Journal of the American Heart Association
https://read.qxmd.com/read/37755470/evaluating-variation-in-the-cardiac-management-of-children-with-hereditary-thoracic-aortic-disease-in-the-united-states
#36
JOURNAL ARTICLE
Cassie N Weyland, Katherine B Salciccioli, Taylor Beecroft, Emily N Soludczyk, Shaine A Morris
Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and vascular Ehlers-Danlos syndrome (VEDS) frequently result in complex cardiovascular pathology that can lead to premature death. However, given limited research and lack of detailed pediatric management guidelines, practice in the U.S. is largely guided by personal experience and/or advice from other professionals. A REDCap survey was composed that covered topics including genetic testing, imaging, and medication choice (all in children), among others...
January 2024: Pediatric Cardiology
https://read.qxmd.com/read/37735759/surgical-treatment-of-cervical-kyphosis-and-atlantoaxial-dislocation-in-a-child-with-loeys-dietz-syndrome-a-case-report-and-literature-review
#37
JOURNAL ARTICLE
Qiu-Qi Zhang, Yue-Hui Zhang, Zhi-Hui Liang, Jia Song, Jiang Shao
We report the case of a 3-year-old child with Loeys-Dietz syndrome, a rare genetic connective tissue disorder. The young girl had concurrent cervical kyphosis, atlantoaxial dislocation (AAD), and spinal cord compression. Posterior occipitocervical fusion was performed. Postoperative examination and clinical manifestations confirmed that all pedicle screws were satisfactorily placed, cervical kyphosis and AAD were corrected, and spinal cord compression was relieved. At the 1-year postoperative follow-up, the patient had recovered well, indicating that our operation was successful...
September 19, 2023: Clinical Spine Surgery
https://read.qxmd.com/read/37719708/variable-clinical-expression-of-a-belgian-tgfb3-founder-variant-suggests-the-presence-of-a-genetic-modifier
#38
JOURNAL ARTICLE
Melanie H A M Perik, Emmanuela Govaerts, Steven Laga, Inge Goovaerts, Johan Saenen, Emeline Van Craenenbroeck, Josephina A N Meester, Ilse Luyckx, Inez Rodrigus, Aline Verstraeten, Lut Van Laer, Bart L Loeys
Background: TGFB3 variants cause Loeys-Dietz syndrome type 5, a syndromic form of thoracic aortic aneurysm and dissection. The exact disease phenotype is hard to delineate because of few identified cases and highly variable clinical representation. Methodology: We provide the results of a haplotype analysis and a medical record review of clinical features of 27 individuals from 5 different families, originating from the Campine region in Flanders, carrying the NM_003239.5( TGFB3 ):c.787G>C p.(Asp263His) likely pathogenic variant, dbSNP:rs796051886, ClinVar:203492...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37692180/arterial-tortuosity-syndrome-unraveling-a-rare-vascular-disorder
#39
REVIEW
Chukwuyem Ekhator, Monika Devi, Chad Barker, Shamayel Safdar, Rabbia Irfan, Jahnavi Malineni, Iqbal Hussain, Pakeezah Bisharat, Afif Ramadhan, Ali M Abdelaziz, Sophia B Bellegarde, Muhammad Nabeel Saddique
Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS...
September 2023: Curēus
https://read.qxmd.com/read/37688493/the-usefulness-of-the-genetic-panel-in-the-classification-and-refinement-of-diagnostic-accuracy-of-mexican-patients-with-marfan-syndrome-and-other-connective-tissue-disorders
#40
JOURNAL ARTICLE
Giovanny Fuentevilla-Álvarez, María Elena Soto, Yazmín Estela Torres-Paz, Sergio Enrique Meza-Toledo, Gilberto Vargas-Alarcón, Nadia González-Moyotl, Israel Pérez-Torres, Linaloe Manzano-Pech, Ana Maria Mejia, Claudia Huesca-Gómez, Ricardo Gamboa
Marfan syndrome (MFS) is a multisystem genetic disorder with over 3000 mutations described in the fibrillin 1 (FBN1) gene. Like MFS, other connective tissue disorders also require a deeper understanding of the phenotype-genotype relationship due to the complexity of the clinical presentation, where diagnostic criteria often overlap. Our objective was to identify mutations in patients with connective tissue disorders using a genetic multipanel and to analyze the genotype-phenotype associations in a cohort of Mexican patients...
September 8, 2023: Biomol Biomed
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