Olga Perelshtein Brezinov, Amihay Shinfeld, Michael Arad, Tal Cahan, Michal J Simchen, Rafael Kuperstein
While the immediate effects of pregnancy on aortic dimension in patients with Marfan syndrome (MFS) have been evaluated, the late effects of subsequent pregnancies in these patients are less known. For this purpose, we evaluated 2 groups of women with MFS who were under specialized care in our institution. Group A included 23 women with MFS who experienced 55 pregnancies; group B included 12 nulliparous MFS patients. Patients in group A were similar in age (36.13 ± 5.6 years vs. 34.25 ± 6.54 years, p = 0...
November 25, 2020: Cardiology
Hsiu-Wen Liu, Li-Wen Huang, Shuenn-Nan Chiu, Hung-Chi Lue, Mei-Hwan Wu, Ming-Ren Chen, Jou-Kou Wang
Background: Sudden cardiac death (SCD) is an uncommon but significant cause of death in the young. Citywide cardiac screening of school-aged children has been performed in Taipei since 1989. In this study, we investigate the efficacy of this screening method for identifying those at high risk of SCD. Methods: This study analyzed the data from the results of cardiac screening for school-aged children in Taipei from 2003 to 2014. The cardiac screening included: Stage I, questionnaire surveys, simplified phonocardiography test and simplified electrocardiography (ECG) test; Stage II, physical examination and auscultation by a pediatric cardiologist for all children who had abnormal findings in stage I screening; Stage III, referral to a pediatric cardiologist for further examinations...
November 2020: Acta Cardiologica Sinica
Cristiana Iosef, Albert J Pedroza, Jason Z Cui, Alex R Dalal, Mamoru Arakawa, Yasushi Tashima, Tiffany K Koyano, Grayson Burdon, Samantha M P Churovich, Joshua O Orrick, Mitchel Pariani, Michael P Fischbein
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the FBN1 gene that produces wide disease phenotypic variability. The lack of ample genotype-phenotype correlation hinders translational study development aimed at improving disease prognosis. In response to this need, an induced pluripotent stem cell (iPSC) disease model has been used to test patient-specific cells by a proteomic approach. This model has the potential to risk stratify patients to make clinical decisions, including timing for surgical treatment...
November 23, 2020: Scientific Reports
Lucas Figueredo Cardoso, Ricardo Ribeiro Dias, Fabrício José Dinato, José Augusto Duncan, Fábio Fernandes, Félix José Alvarez Ramires, Charles Mady, Fábio Biscegli Jatene
BACKGROUND: The best approach for aortic root disease remains controversial. Composite valve-graft conduit (CVG) replacement offers good results at short-term and long-term follow-up; on the other hand, valve-sparing aortic root replacement (VSARR) has proven to be an excellent treatment alternative. This study aimed to analyse the outcomes after VSARR and compare whether preoperative moderate or severe aortic regurgitation (AR) and or the need for aortic valve repair (AVR) during this procedure influenced survival and freedom from reoperation rates...
November 20, 2020: Heart, Lung & Circulation
Catherine Tcheandjieu, Matthew Aguirre, Stefan Gustafsson, Priyanka Saha, Praneetha Potiny, Melissa Haendel, Erik Ingelsson, Manuel A Rivas, James R Priest
The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore the phenotypic expressivity of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) syndromes) in the general population...
November 23, 2020: PLoS Genetics
Ziwei Pan, Antje Ebert, Ping Liang
Rare cardiovascular diseases (RCDs) refer to those cardiovascular diseases that display a low prevalence as well as morbidity. Due to the vast variety of underlying genetic mutations and the relatively low patient population, RCDs present additional challenges for diagnosis. Precision medicine may offer opportunities for designing patient-specific therapies in particular for carriers of variants with undetermined significance. Moreover, precision medicine strategies provide benefit to patients with "common" symptoms but carry in rare genetic variants...
November 18, 2020: Pflügers Archiv: European Journal of Physiology
Mohamed Sobh, Inga Voges, Tim Attmann, Jens Scheewe
Background: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder, which is characterized by rapid development of aortic and peripheral arterial aneurysms. Loeys-Dietz syndrome has some overlapping phenotypic features with other inherited aortopathies such as Marfan syndrome. However, LDS has a more aggressive vascular course with patient morbidity and mortality occurring at an early age. Case summary: We present the rare case of an 11-year-old girl with LDS who underwent valve sparing aortic root replacement at the age of 2...
October 2020: European Heart Journal. Case Reports
Yuduo Wu, Hairui Sun, Jianbin Wang, Xin Wang, Ming Gong, Lu Han, Yihua He, Hongjia Zhang
Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In this study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation between FBNI gene mutation and MFS. Forty-four low-frequency harmful loci were identified for the FBN1 gene in HGMD database. In addition, 38 loci were identified in the same database that have not been related to MFS before...
November 17, 2020: Bioscience Reports
Caixia Zhu, Sofia C Torres, José Pedro L Nunes
Background: Aortic valve fenestrations (AVFs) seem to be relatively common; however, their impact in human heart disease is not entirely clear. Methods: A review was carried out to assess all scientific literature on human patients related to AVFs, as described in the published literature. The search was conducted on 2 different databases, Medline (PubMed), and ISI Web of Knowledge. Results: Fifty-five reports were under analysis. Autopsy studies showed AVFs to be present in 55...
September 2020: Porto Biomedical Journal
Hongorzul Davaapil, Deeti K Shetty, Sanjay Sinha
Thoracic aortic diseases, whether sporadic or due to a genetic disorder such as Marfan syndrome, lack effective medical therapies, with limited translation of treatments that are highly successful in mouse models into the clinic. Patient-derived induced pluripotent stem cells (iPSCs) offer the opportunity to establish new human models of aortic diseases. Here we review the power and potential of these systems to identify cellular and molecular mechanisms underlying disease and discuss recent advances, such as gene editing, and smooth muscle cell embryonic lineage...
2020: Frontiers in Cell and Developmental Biology
Ming-Sing Si
No abstract text is available yet for this article.
October 22, 2020: Journal of Thoracic and Cardiovascular Surgery
Mitchell King-Wei Long, Tyler Enders, Dante Leven, Anthony Cappellino
STUDY DESIGN: Case Report (level V evidence). OBJECTIVE: We report a case of a 33-year-old male with Marfan syndrome that visited our clinic for left knee pain and stiffness. Radiographs of the left knee and lumbar spine demonstrated a spinal rod in the posterolateral left knee and its origin being a broken rod from his previous unilateral spinal fusion 17 years prior. SUMMARY OF BACKGROUND DATA: Spinal arthrodesis is a common treatment modality for a wide range of spinal pathologies including infection, trauma, congenital and developmental deformities, and degenerative conditions...
November 10, 2020: Spine
Kai Zhu, Wenrui Ma, Jun Li, Yu Shrike Zhang, Weijia Zhang, Hao Lai, Chunsheng Wang
Induced pluripotent stem cells (iPSCs) offer an effective platform for studies of human physiology and have revealed new possibilities for disease modeling at the cellular level. These cells also have the potential to be leveraged in the practice of precision medicine, including personalized drug testing. Aortic diseases result in significant morbidity and mortality and pose a global burden to healthcare. Their pathogenesis is mostly associated with functional alterations of vascular components, such as endothelial cells and vascular smooth muscle cells...
November 12, 2020: Stem Cells Translational Medicine
Hironori Hara, Sonoko Maemura, Takayuki Fujiwara, Norifumi Takeda, Satoshi Ishii, Hiroki Yagi, Takaaki Suzuki, Mutsuo Harada, Haruhiro Toko, Tsubasa Kanaya, Hideaki Ijichi, Harold L Moses, Eiki Takimoto, Hiroyuki Morita, Hiroshi Akazawa, Issei Komuro
Increased transforming growth factor-β (TGF-β) signaling contributes to the pathophysiology of aortic aneurysm in Marfan syndrome (MFS). Recent reports indicate that a small but significant number of inflammatory cells are infiltrated into the aortic media and adventitia in MFS. However, little is known about the contribution of myeloid cells to aortic aneurysmal formation. In this study, we ablated the TGF-β type II receptor gene Tgfbr2 in myeloid cells of Fbn1C1039G/+ MFS mice (Fbn1C1039G/+;LysM-Cre/+;Tgfbr2fl/fl mice, hereinafter called Fbn1C1039G/+;Tgfbr2MyeKO) and evaluated macrophage infiltration and TGF-β signaling in the aorta...
2020: PloS One
Amparo Hernándiz, Angel Zúñiga, Francisco Valera, Diana Domingo, Imelda Ontoria-Oviedo, Jose F Marí, Jose A Román, Inmaculada Calvo, Beatriz Insa, Rosa Gómez, José V Cervera, Manuel Miralles, Jose A Montero, Luis Martínez-Dolz, Pilar Sepúlveda
Marfan syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene, and cardiovascular involvement is the leading cause of mortality. We sought to examine the genotype/phenotype realtionship in 61 consecutive patients with a phenotype and genotype compatible with MFS. The FBN1 gene was analyzed by massive sequencing using a hybridization capture-based target enrichment custom panel. Forty-three different variants of FBN1 were identified, of which 17 have not been previously reported...
November 11, 2020: Clinical Genetics
Ee Shern Liang, Kate Mahady, Alan Coulthard, Craig Winter
Loeys-Dietz syndrome (LDS) is a connective tissue disorder with associated systemic vasculopathies including intracranial arterial aneurysm formation and dissections. LDS is a relatively less well-known entity compared with other connective tissue disorders, such as Ehlers-Danlos or Marfan syndrome, and consequently experience in the management of the associated intracranial aneurysms is suboptimal. We present a case of surgical clipping of a middle cerebral artery aneurysm in a patient with LDS. A 46-year-old female with LDS (type III) was found to have a right middle cerebral artery (MCA) bifurcation aneurysm following vascular screening...
January 2021: Radiology Case Reports
Khaled D Algarni, Amr A Arafat, Adam I Adam, Claudio Pragliola
No abstract text is available yet for this article.
2020: Journal of the Saudi Heart Association
Takako Matsumoto, Kenta Uto, Hideaki Oda, Tamami Isaka, Yoji Nagashima, Masato Kanzaki
Background: Patients with Marfan syndrome (MFS) often develop pneumothorax, but the features of pneumothorax in the context of MFS have not been well described in the literature. We clarified the clinical and histopathological characteristics of this condition in these patients. Methods: Patients with MFS were selected from among all patients who underwent surgery for pneumothorax, between December 1991 and January 2015, in our hospital. We studied the histopathological characteristics of the resected lungs as well as the clinical features of the selected patients, including surgical findings and postoperative recurrence status...
September 2020: Journal of Thoracic Disease
Sami Alhoulaiby, Lina Okar, Haya Samaan, Hisham Qalaani
INTRODUCTION: Marfan syndrome, G6PD deficiency, systemic lupus erythematosus (SLE), and Castleman disease are four distinctive, thoroughly investigated entities whose coincidence was never reported. However, occurrence in pairs was sporadically mentioned in literature. CASE PRESENTATION: We report a 15-year-old Caucasian G6PD deficient Marfan male patient, who presented with tonic-clonic seizures, fever, a hemolytic episode, and general symptoms. After the discovery of hepatosplenomegaly, malar rash, and painless lymphadenopathy, further testing diagnosed a multifocal Castleman disease of the hyaline vascular subtype and systemic lupus erythematosus with lupus nephritis that got 35 points on the 2019 EULAR/ACR criteria...
November 3, 2020: Auto- Immunity Highlights
Kai Huang, Yongchen Wang, Kin Lung Siu, Yixuan Zhang, Hua Cai
In the present study we aimed to identify novel mechanisms and therapeutics for thoracic aortic aneurysm (TAA) in Fbn1C1039G/+ Marfan Syndrome (MFS) mice. The expression of mature/active TGFβ and its downstream effector NOX4 were upregulated while tetrahydrobiopterin (H4 B) salvage enzyme dihydrofolate reductase (DHFR) was downregulated in Fbn1C1039G/+ mice. In vivo treatment with anti-TGFβ completely attenuated NOX4 expression, restored DHFR protein abundance, reduced ROS production, recoupled eNOS and attenuated aneurysm formation...
October 13, 2020: Redox Biology
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