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Genetic aortic syndrome

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https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#1
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29210860/aortic-dilatation-in-marfan-syndrome-role-of-arterial-stiffness-and-fibrillin-1-variants
#2
Paolo Salvi, Andrea Grillo, Susan Marelli, Lan Gao, Lucia Salvi, Maurizio Viecca, Anna Maria Di Blasio, Renzo Carretta, Alessandro Pini, Gianfranco Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation and dissection and an abnormal fibrillin-1 synthesis. In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype. METHODS: A total of 116 Marfan adult patients without history of cardiovascular surgery, and 144 age, sex, blood pressure and heart rate matched controls were enrolled...
January 2018: Journal of Hypertension
https://www.readbyqxmd.com/read/29204794/thoracic-aortic-aneurysm-unlocking-the-silent-killer-secrets
#3
Ayman A Saeyeldin, Camilo A Velasquez, Syed Usman B Mahmood, Adam J Brownstein, Mohammad A Zafar, Bulat A Ziganshin, John A Elefteriades
Thoracic aortic aneurysm (TAA) is an increasingly recognized condition that is often diagnosed incidentally. This review discusses ten of the most relevant epidemiological and clinical secrets of this disease; (1) the difference in pathogenesis between ascending and descending TAAs. TAAs at these two sites act as different diseases, which is related to the different embryologic origins of the ascending and descending aorta. (2) The familial pattern and genetics of thoracic aneurysms. Syndromic TAAs only explain 5% of the pattern of inheritance...
December 4, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29202781/acta2-mutation-and-postpartum-hemorrhage-a-case-report
#4
Kylie Cooper, Stephen Brown
BACKGROUND: ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. We note that ACTA2 is also expressed in uterine smooth muscle, and this raises the possibility that women harboring ACTA2 mutations might exhibit uterine smooth muscle dysfunction...
December 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29202755/h558r-a-common-scn5a-polymorphism-modifies-the-clinical-phenotype-of-brugada-syndrome-by-modulating-dna-methylation-of-scn5a-promoters
#5
Hiroya Matsumura, Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Shunsuke Tomomori, Chikaaki Motoda, Michitaka Amioka, Naoya Hironobe, Masaaki Toshishige, Shinya Takahashi, Katsuhiko Imai, Taijiro Sueda, Kazuaki Chayama, Yasuki Kihara
BACKGROUND: A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. METHODS AND RESULTS: We genotyped H558R in 100 BrS (mean age 45 ± 14 years; 91 men) and 1875 controls (mean age 54 ± 18 years; 1546 men). We compared clinical parameters in BrS with and without H558R (H558R+ vs...
December 4, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29196848/left-sided-congenital-heart-lesions-in-mosaic-turner-syndrome
#6
Nouha Bouayed Abdelmoula, Balkiss Abdelmoula, Walid Smaoui, Imen Trabelsi, Rim Louati, Samir Aloulou, Wafa Aloulou, Fatma Abid, Senda Kammoun, Khaled Trigui, Olfa Bedoui, Hichem Denguir, Souad Mallek, Mustapha Ben Aziza, Jamila Dammak, Oldez Kaabi, Nawel Abdellaoui, Fatma Turki, Asma Kaabi, Wafa Kamoun, Jihen Jabeur, Wided Ltaif, Kays Chaker, Haytham Fourati, Samir M'rabet, Hedi Ben Ameur, Naourez Gouia, Mohamed Nabil Mhiri, Tarek Rebai
In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age...
December 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29191731/characteristic-morphologies-of-the-bicuspid-aortic-valve-in-patients-with-genetic-syndromes
#7
Talha Niaz, Joseph T Poterucha, Timothy M Olson, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. METHODS: The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016...
November 28, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29176310/urinary-disorders-and-marfan-syndrome-a-series-of-4-cases
#8
Claire Hentzen, Nicolas Turmel, Camille Chesnel, Frederique Le Breton, Samer Sheikh Ismael, Gérard Amarenco
Marfan syndrome is a genetic disease responsible for causing cardiovascular, eye and musculoskeletal damages. Urinary disorders are not common. We present 4 cases of chronic urinary tract symptoms, with 2 different pathophysiological processes. Three patients presented with spinal cord infarct following aortic dissection surgery. They were affected by an overactive bladder with detrusor overactivity and detrusor-sphincter dyssynergia. One patient complained of voiding dysfunction, possibly related to dural ectasia...
November 24, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/29174139/altered-tgf-%C3%AE-endocytic-trafficking-contributes-to-the-increased-signaling-in-marfan-syndrome
#9
Anna-Maria Siegert, Carla Serra-Peinado, Enric Gutiérrez-Martínez, Fernando Rodríguez-Pascual, Isabel Fabregat, Gustavo Egea
The main cardiovascular alteration in Marfan syndrome (MFS) is the formation of aortic aneurysms in which augmented TGF-β signaling is reported. However, the primary role of TGF-β signaling as a molecular link between the genetic mutation of fibrillin-1 and disease onset is controversial. The compartmentalization of TGF-β endocytic trafficking has been shown to determine a signaling response in which clathrin-dependent internalization leads to TGF-β signal propagation, and caveolin-1 (CAV-1) associated internalization leads to signal abrogation...
November 23, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29141531/statins-in-aortic-disease
#10
Vicky Tsigkou, Gerasimos Siasos, Eva Mpletsa, Maria-Paraskevi Panoilia, Aggeliki Papastavrou, Giorgos Kokosias, Evangelos Oikonomou, Marina Zaromitidou, Manolis Vavuranakis, Christodoulos Stefanadis, Dimitris Tousoulis
BACKGROUND: Numerous studies indicate that statins have also multiple beneficial actions (known as 'pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, increased arterial thrombosis, and the stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29114001/impaired-central-pulsatile-hemodynamics-in-children-and-adolescents-with-marfan-syndrome
#11
Andrea Grillo, Paolo Salvi, Susan Marelli, Lan Gao, Lucia Salvi, Andrea Faini, Giuliana Trifirò, Renzo Carretta, Alessandro Pini, Gianfranco Parati
BACKGROUND: Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS: In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#12
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#13
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045289/genetic-origins-of-tetralogy-of-fallot
#14
Ari Morgenthau, William H Frishman
Due to improved survival and clinical outcomes, congenital heart disease is an area of growing importance within the medical community. As these patients reach adulthood and have children, there has been a growing appreciation for the increased risk of CHD among their offspring, strongly implying a genetic element. Given the growing wealth of genetic data available and these clinical implications, this review serves to re-examine the role of genetics within CHD, using Tetralogy of Fallot as a model pathology...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29022822/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#15
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...
February 13, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28994146/congenital-unruptured-aneurysm-of-sinus-of-valsalva-quadricuspid-aortic-valve-and-ascending-aortic-aneurysm-associated-with-genetic-leukoencephalopathy-in-an-infant-a-new-syndrome
#16
Elaheh Malakan Rad, Hamidreza Pouraliakbar
We report a 15-month-old female with unruptured noncoronary sinus of Valsalva anreurysm (SOVA) associated with quadricuspid aortic valve, ascending aortic aneurysm (AAA), moderate aortic insufficiency, mild mitral insufficiency, genetic leukoencepaholpathy, developmental delay and mild mixed aminoaciduria. She was referred for evaluation of a cardiac murmur. Initial echocardiographic examination showed the aneurysm as a round cyst in the right atrium which changed in size during systole and diastole. As to the best of our knowledge, this is the first report of association of SOVA, quadricuspid aortic valve, AAA and genetic leukoencephalopathy in an infant...
October 10, 2017: Echocardiography
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#17
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28973303/fbn1-mutations-largely-contribute-to-sporadic-non-syndromic-aortic-dissection
#18
Lun Tan, Zongze Li, Chengming Zhou, Yanyan Cao, Lina Zhang, Xianqing Li, Katherine Cianflone, Yan Wang, Dao Wen Wang
Mutations in FBN1 have been well identified in syndromic aortic dissection (AD) and familial thoracic aortic aneurysms and dissections. However, whether mutations of FBN1 contribute to sporadic non-syndromic AD and the characteristics of mutations remain unknown.Using next-generation-sequencing technology, FBN1 was sequenced in a total of 702 sporadic cases (including 687 of non-syndromic AD and 15 of sporadic Marfan syndrome (MFS) with aortic event, and 527 normal controls). For the sporadic non-syndromic AD cohort, we found 26 variants in 27 patients (18 with missense, 2 frameshift, 1 initiation codon mutation, 3 nonsense, and 3 splice site mutations)...
September 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28901506/whole-exome-sequencing-identifies-fbn1-mutations-in-two-patients-with-early%C3%A2-onset-type-b-aortic-dissection
#19
Qian Han, Wenwen Zhang, Changjian Liu, Min Zhou, Feng Ran, Long Yi, Xitai Sun, Zhao Liu
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28886442/four-new-cases-of-pediatric-thoracic-aortic-aneurysm-taa-with-review-of-the-molecular-genetic-basis-utilizing-the-newly-published-consensus-nomenclature
#20
Shriprasad Deshpande, Adina Alazraki, Nasim Khoshnam, Diana Kantarovich, Pooya Hoseinzadeh, Camden Hebson, Ajay Bhatia, Lauren Schaffer, Elana Maccou, Bahig M Shehata
The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. We discuss the molecular genetic basis of these syndromes in conjunction with the radiological findings and histological description utilizing the newly published consensus criteria article...
July 27, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
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