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Genetic aortic syndrome

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https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#1
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28321341/singleton-merten-syndrome-a-rare-cause-of-early-onset-aortic-stenosis
#2
Harshavardhan Ghadiam, Sudhir Mungee
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#3
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28304197/endovascular-treatment-of-a-dural-arteriovenous-fistula-in-a-patient-with-loeys-dietz-syndrome-a-case-report
#4
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28274950/management-of-endocrine-disease-diagnostic-and-therapeutic-approach-of-tall-stature
#5
Edoarda Vasco de Albuquerque Albuquerque, Renata C Scalco, Alexander Augusto de Lima Jorge
Tall stature is defined as a height of more than 2 standard deviations (SD) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand specific follow-up approaches...
March 8, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28252349/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#6
A Harky, M Garner, N Roberts
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative...
March 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28248915/-phacing-a-new-cause-of-carotid-artery-dissection
#7
Caterina Kulyk, Filippo Farina, Anna Palmieri, Federica Viaro, Francesco Causin, Anna M Laverda, Claudio Baracchini
INTRODUCTION: Cervical arterial dissection (CAD) is a frequent and preventable cause of ischemic stroke in young patients. Several arguments suggest that genetic and developmental disorders could play an important role as part of a multifactorial predisposition of sporadic CAD.We present 2 cases of young patients with CAD in association with cutaneous lesions and nonatherosclerotic multivessel arteriopathy. CASE REPORTS: Our first patient was a 17-year-old white girl with sudden onset of weakness in her right upper limb...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28246187/tgf-%C3%AE-family-signaling-in-connective-tissue-and-skeletal-diseases
#8
Elena Gallo MacFarlane, Julia Haupt, Harry C Dietz, Eileen M Shore
The transforming growth factor β (TGF-β) family of signaling molecules, which includes TGF-βs, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-β family members play different roles in these tissues, and their activities are often balanced with those of other TGF-β family members and by interactions with other signaling pathways...
February 28, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28240702/utility-of-genetic-testing-in-elite-volleyball-players-with-aortic-root-dilation
#9
Nicole Herrick, Christopher Davis, Lisa Vargas, Hal Dietz, Paul Grossfeld
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan Syndrome (MFS). Consequently, identification of these abnormalities can be lifesaving. PURPOSE: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. METHODS: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva...
February 25, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28230898/manifestations-and-medicolegal-significance-of-loeys-dietz-syndrome
#10
Roger W Byard
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome...
February 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#11
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#12
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: To assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases and genetic data were not available for 26 cases...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28163941/novel-pathogenic-variant-in-tgfbr2-confirmed-by-molecular-modeling-is-a-rare-cause-of-loeys-dietz-syndrome
#13
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28163434/aortic-and-pulmonary-artery-calcification-an-unusual-manifestation-of-twin-to-twin-transfusion-syndrome
#14
Sumitra Venkatesh, J Sanyukta, S Jain, S S Prabhu, S Kulkarni
Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin...
January 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#15
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28119285/aortopathy-in-a-mouse-model-of-marfan-syndrome-is-not-mediated-by-altered-transforming-growth-factor-%C3%AE-signaling
#16
Hao Wei, Jie Hong Hu, Stoyan N Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A Dichek
BACKGROUND: Marfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin-1 (FBN1); however, the mechanisms through which fibrillin-1 deficiency causes MFS-associated aortopathy are uncertain. Recently, attention was focused on the hypothesis that MFS-associated aortopathy is caused by increased transforming growth factor-β (TGF-β) signaling in aortic medial smooth muscle cells (SMC). However, there are many reasons to doubt that TGF-β signaling drives MFS-associated aortopathy...
January 24, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28102232/aetiology-and-management-of-hereditary-aortopathy
#17
REVIEW
Aline Verstraeten, Ilse Luyckx, Bart Loeys
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk...
April 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28067899/nitric-oxide-mediates-aortic-disease-in-mice-deficient-in-the-metalloprotease-adamts1-and-in-a-mouse-model-of-marfan-syndrome
#18
Jorge Oller, Nerea Méndez-Barbero, E Josue Ruiz, Silvia Villahoz, Marjolijn Renard, Lizet I Canelas, Ana M Briones, Rut Alberca, Noelia Lozano-Vidal, María A Hurlé, Dianna Milewicz, Arturo Evangelista, Mercedes Salaices, J Francisco Nistal, Luis Jesús Jiménez-Borreguero, Julie De Backer, Miguel R Campanero, Juan Miguel Redondo
Heritable thoracic aortic aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causative mutations have been identified for only a fraction of affected families. Here we identify the metalloproteinase ADAMTS1 and inducible nitric oxide synthase (NOS2) as therapeutic targets in individuals with TAAD. We show that Adamts1 is a major mediator of vascular homeostasis, given that genetic haploinsufficiency of Adamts1 in mice causes TAAD similar to MFS. Aortic nitric oxide and Nos2 levels were higher in Adamts1-deficient mice and in a mouse model of MFS (hereafter referred to as MFS mice), and Nos2 inactivation protected both types of mice from aortic pathology...
February 2017: Nature Medicine
https://www.readbyqxmd.com/read/28065489/chronobiology-of-acute-aortic-dissection-in-the-marfan-syndrome-from-the-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-and-the-international-registry-of-acute-aortic-dissection
#19
Hasan K Siddiqi, Steven N Luminais, Dan Montgomery, Eduardo Bossone, Harry Dietz, Arturo Evangelista, Eric Isselbacher, Scott LeMaire, Roberto Manfredini, Dianna Milewicz, Christoph A Nienaber, Mary Roman, Udo Sechtem, Michael Silberbach, Kim A Eagle, Reed E Pyeritz
Marfan syndrome (MFS) is an autosomal dominant connective tissue disease associated with acute aortic dissection (AAD). We used 2 large registries that include patients with MFS to investigate possible trends in the chronobiology of AAD in MFS. We queried the International Registry of Acute Aortic Dissection (IRAD) and the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry to extract data on all patients with MFS who had suffered an AAD. The group included 257 patients with MFS who suffered an AAD from 1980 to 2012...
December 2, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28040141/prenatal-diagnosis-of-smith-magenis-syndrome-in-two-fetuses-with-increased-nuchal-translucency-mild-lateral-ventriculomegaly-and-congenital-heart-defects
#20
Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA)...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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