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Marfan syndrome

R F Galiano Blancart, G Fortea, A Pampliega Pérez, S Martí, V Parkhutik, A V Sánchez Cruz, C Soriano, D Geffner Sclarsky, M T Pérez Saldaña, N López Hernández, I Beltrán, A Lago Martín
INTRODUCTION: Cortical subarachnoid haemorrhage (cSAH) has multiple aetiologies. No prospective study has reported the long-term progression of the condition. The objective of this study is to describe the clinical and aetiological characteristics of patients with cSAH and to gain insight into prognosis. METHODS: We performed a prospective, observational, multi-centre study. Data on clinical and radiological variables were collected; during a one-year follow-up period, we recorded data on mortality, dependence, rebleeding, and the appearance of dementia...
June 11, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Christina Y Weng, Joseph F Morales, Zaina Al-Mohtaseb
No abstract text is available yet for this article.
June 14, 2018: JAMA Ophthalmology
Linxin Jiang, Dingding Zhang, Ying Xiao, Qi Wang, Bo Gong, Xiaoxin Guo, Maomin Huang, Zhenglin Yang
OBJECTIVE: To detect potential mutations of fibrillin-1 (FBN1) gene in a child with Marfan syndrome (MFS) and explore its molecular pathogenesis. METHODS: The 66 exons of the FBN1 gene were analyzed by direct sequencing. SIFT and PolyPhen-2 were used to predict the structural and functional changes at the protein level. RESULTS: A novel heterozygous mutation c.3998 G>A (p.Cys1333Tyr) was found in exon 32 in the child. The same mutation was not found among his unaffected family members and 683 healthy controls...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Vicente Orozco-Sevilla, Richard Whitlock, Ourania Preventza, Kim I de la Cruz, Joseph S Coselli
Aortic root aneurysm is the most common cardiovascular manifestation requiring surgical intervention in patients with Marfan syndrome (MFS), a heritable thoracic aortic disease. Elective replacement of the aortic root is the treatment of choice for patients with aneurysmal complications of the aortic root and ascending aorta. There are two basic approaches to aortic root replacement: valve-sparing (VS) and valve-replacing (VR) techniques. After successful aortic root replacement surgery, several patients with MFS may develop a late complication related to their aortic disease process, such as developing a pseudoaneurysm of the coronary artery reattachment buttons, aneurysmal expansion, or aortic dissection in the remaining native aorta...
June 2018: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
Jakob M Burgstaller, Ulrike Held, Selim Mosbahi, Dushaj Stak, Johann Steurer, Friedrich Eckstein, Denis A Berdajs
This systemic review of the literature and meta-analysis aimed to evaluate the current state of the evidence for and against reimplantation of the aortic valve (RAV) versus the composite valve graft (CVG) intervention in patients with Marfan syndrome. Random effects meta-regression was performed across the study arms with logit-transformed proportions of in-hospital deaths as an outcome measure when possible. Results are presented as odds ratios with 95% confidence intervals (CIs) and P-values. Other outcomes are summarized with medians, interquartile ranges (IQR) and ranges and the numbers of patients at risk...
June 9, 2018: European Journal of Cardio-thoracic Surgery
Stephanie Panzer, Randall C Thompson, Klaus Hergan, Albert R Zink, Dario Piombino-Mascali
The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19th century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed...
June 8, 2018: International Journal of Paleopathology
Frank Cikach, Milind Y Desai, Eric E Roselli, Vidyasagar Kalahasti
Thoracic aortic aneurysm (TAA) is usually clinically silent and progresses slowly until a tipping point is reached, after which the aortic diameter can expand more rapidly and the condition can potentially end in aortic dissection or rupture. Causes include bicuspid aortic valve and genetic syndromes (Marfan, Loeys-Dietz, and Ehlers-Danlos syndromes) and familial associations, but many cases are idiopathic. Clinicians should therefore be alert for clues on chest imaging, and consider screening in first-degree relatives of patients known to have aortic disease...
June 2018: Cleveland Clinic Journal of Medicine
Christopher Yu, Richmond W Jeremy
Marfan syndrome is consequent upon mutations in FBN1 , which encodes the extracellular matrix microfibrillar protein fibrillin-1. The phenotype is characterised by development of thoracic aortic aneurysm. Current understanding of the pathogenesis of aneurysms in Marfan syndrome focuses upon abnormal vascular smooth muscle cell signalling through the transforming growth factor beta (TGFβ) pathway. Angiotensin II (Ang II) can directly induce aortic dilatation and also influence TGFβ synthesis and signalling...
March 2018: IJC Heart & Vasculature
Julie Richer, Anne-Marie Laberge
PURPOSE: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework. METHODS: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood. RESULTS: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4)...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Laura Muiño-Mosquera, Felke Steijns, Tjorven Audenaert, Ilse Meerschaut, Anne De Paepe, Wouter Steyaert, Sofie Symoens, Paul Coucke, Bert Callewaert, Marjolijn Renard, Julie De Backer
BACKGROUND: The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretation. In 2015, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology proposed new variant interpretation guidelines. Gene-specific characteristics were, however, not considered, sometimes leading to inconsistent variant interpretation. METHODS: To allow a more uniform interpretation of variants in the FBN1 (fibrillin-1) gene, causing Marfan syndrome, we tailored these guidelines to this gene and disease...
June 2018: Circulation. Genomic and precision medicine
Payal K Gurnani, Allison Bohlmann, Robert J March
BACKGROUND: Venoarterial extracorporeal membrane oxygenation (VA-ECMO) has been used as a bridge to cardiac recovery in patients following a major cardiac event. There is a lack of literature surrounding prolonged use of eptifibatide and optimal dosing during ECMO. This case report describes our experience with extended durations and standard dosing of eptifibatide in the setting of ECMO. CASE: A 40-year-old male with a history of Marfan's syndrome, aortic root and ascending aortic aneurysm status post a modified Bentall with a St...
June 1, 2018: Perfusion
Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du
Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1 ) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified...
2018: International Journal of Genomics
Evan J Zucker
A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS)...
April 2018: Cardiovascular Diagnosis and Therapy
Kálmán Benke, Bence Ágg, Janine Meienberg, Anna M Kopps, Nathalie Fattorini, Roland Stengl, Noémi Daradics, Miklós Pólos, András Bors, Tamás Radovits, Béla Merkely, Julie De Backer, Zoltán Szabolcs, Gábor Mátyás
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb FBN1 deletion, we highlight the need for and the feasibility of testing for CNVs (>1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era...
April 2018: Journal of Thoracic Disease
Yu Chen, Wei-Guo Ma, Jun Zheng, Yong-Min Liu, Jun-Ming Zhu, Li-Zhong Sun
Background: We seek to report the long-term outcomes of the total arch replacement and frozen elephant trunk (TAR + FET) technique for type A aortic dissection (TAAD) following prior Bentall procedure in patients with Marfan syndrome (MFS). Methods: Between 2003 and 2015, we performed TAR + FET for 26 patients with MFS who developed TAAD following a prior Bentall procedure. Mean age at FET 36.9±9.7 years and 24 were males. TAAD was acute in 8 (30.8%, all new dissections from precious root aneurysm) and chronic in 18 (69...
April 2018: Journal of Thoracic Disease
Julie De Backer, Laurence Campens, Laura Muiño Mosquera
No abstract text is available yet for this article.
June 2018: Circulation. Genomic and precision medicine
Norifumi Takeda, Ryo Inuzuka, Sonoko Maemura, Hiroyuki Morita, Kan Nawata, Daishi Fujita, Yuki Taniguchi, Haruo Yamauchi, Hiroki Yagi, Masayoshi Kato, Hiroshi Nishimura, Yoichiro Hirata, Yuichi Ikeda, Hidetoshi Kumagai, Eisuke Amiya, Hironori Hara, Takayuki Fujiwara, Hiroshi Akazawa, Jun-Ichi Suzuki, Yasushi Imai, Ryozo Nagai, Shinichi Takamoto, Yasunobu Hirata, Minoru Ono, Issei Komuro
BACKGROUND: Marfan syndrome can cause life-threatening aortic complications. We investigated the relationship between FBN1 genotype and severe aortopathy (aortic root replacement, type A dissections, and related death). METHODS: We evaluated 248 patients with pathogenic or likely pathogenic FBN1 variants. The variants were classified as haploinsufficient type (HI, n=93) or dominant-negative type (DN, n=155) based on their location and predicted amino acid alterations, and we examined the effects of the FBN1 genotype on severe aortic events (aortic root replacement, type A dissections, and related death)...
June 2018: Circulation. Genomic and precision medicine
Miao Zhang, Yaqi Zhou, Yang Peng, Lijun Jin
The present report aimed to evaluate the results of screen mutations of the fibrillin (FBN) 1 gene and analyze the symptoms in one Chinese patient clinically diagnosed with Marfan syndrome (MFS). Clinical data were collected and FBN1 gene sequencing was performed. Genomic DNA was extracted from the blood sample of the patient. All 65 exons were screened using a polymerase chain reaction assay. The diagnosis of MFS was confirmed via identification of symptoms presenting in the skeletal system (arachnodactyly, walker wrist and thumb signs) and the ocular system (ectopia lentis), in addition to a positive family history...
May 22, 2018: Molecular Medicine Reports
Gabriella M Paisan, Kenneth M Crandall, Stephanie Chen, S Shelby Burks, Laurence R Sands, Allan D Levi
Anterior sacral meningoceles (ASMs) are rare lesions often associated with connective tissue disorders. These lesions are typically treated posteriorly via closure of the dural stalk. However, given their insidious nature, ASMs can be quite large on presentation, and this approach may not provide adequate decompression. In this case report, the authors describe the successful treatment of a large ASM through drainage and watertight closure of the cyst with an omental flap. A 43-year-old woman with a history of Marfan syndrome and a large ASM was referred for neurosurgical intervention...
May 25, 2018: Journal of Neurosurgery. Spine
Ahmed Mohammad, Haytham Helmi, Paldeep S Atwal
We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1 , denoted by c...
2018: Case Reports in Genetics
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