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Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Bradley G Leshnower, Edward P Chen
Management of aortic root pathology during repair of acute type A aortic dissection (TAAD) requires a comprehensive evaluation of the patient's anatomy, demographics, comorbidities and physiologic status at the time of emergent operative intervention. Surgical options include conservative repair of the root (CRR) (with or without replacement of the aortic valve), replacement of the native valve and aortic root using a composite valve-conduit and valve sparing root replacement (VSRR). The primary objective of this review is to provide data for surgeons to aid in their decision-making process regarding management of the aortic root during repair of TAAD...
July 2016: Annals of Cardiothoracic Surgery
John Pepper
The management of patients with acute aortic dissection continues to be a challenge. It is an uncommon but lethal condition which continues to be under-diagnosed and under-treated. In this review, the term acute aortic syndrome is preferred in order to embrace the closely related pathologies of intramural hematoma (IMH) and penetrating aortic ulcer (PAU).
July 2016: Annals of Cardiothoracic Surgery
Paolo Berretta, Himanshu J Patel, Thomas G Gleason, Thoralf M Sundt, Truls Myrmel, Nimesh Desai, Amit Korach, Antonello Panza, Joe Bavaria, Ali Khoynezhad, Elise Woznicki, Dan Montgomery, Eric M Isselbacher, Roberto Di Bartolomeo, Rossella Fattori, Christoph A Nienaber, Kim A Eagle, Santi Trimarchi, Marco Di Eusanio
Type A acute aortic dissection (TAAD) is a disease that has a catastrophic impact on a patient's life and emergent surgery represents a key goal of early treatment. Despite continuous improvements in imaging techniques, medical therapy and surgical management, early mortality in patients undergoing TAAD repair still remains high, ranging from 17% to 26%. In this setting, the International Registry of Acute Aortic Dissection (IRAD), the largest worldwide registry for acute aortic dissection, was established to assess clinical characteristics, management and outcomes of TAAD patients...
July 2016: Annals of Cardiothoracic Surgery
Alduz Cabasa, Alberto Pochettino
BACKGROUND: Type A aortic dissection (TAAD) is a complex cardiovascular disease that is associated with high perioperative morbidity and mortality. The most effective approach is still being debated-such as the best cannulation technique, and conservative versus extensive initial surgery. We reviewed our experience over the last 20 years and examined for variables that correlated with observed outcomes. METHODS: All patients who underwent TAAD repair were reviewed...
July 2016: Annals of Cardiothoracic Surgery
Hailong Lu, Patricia M Fagnant, Elena B Krementsova, Kathleen M Trybus
Mutations in vascular smooth muscle α-actin (SM α-actin), encoded by ACTA2, are the most common cause of familial thoracic aortic aneurysms that lead to dissection (TAAD). The R179H mutation has a poor patient prognosis, and is unique in causing multisystemic smooth muscle dysfunction (1). Here we characterize this mutation in expressed human SM α-actin. R179H actin shows severe polymerization defects, with a 40-fold higher critical concentration for assembly than WT SM α-actin, driven by a high disassembly rate...
August 22, 2016: Journal of Biological Chemistry
Wen-Mei Zhang, Yan Liu, Tao-Tao Li, Chun-Mei Piao, Ou Liu, Jun-Ling Liu, Yong-Fen Qi, Li-Xin Jia, Jie Du
Thoracic aortic aneurysm/dissection (TAAD) is characterized by excessive smooth muscle cell (SMC) loss, extracellular matrix (ECM) degradation and inflammation. However, the mechanism whereby signaling leads to SMC loss is unclear. We used senescence-associated (SA)-β-gal staining and analysis of expression of senescence-related proteins (p53, p21, p19) to show that excessive mechanical stretch (20% elongation, 3600cycles/h, 48h) induced SMC senescence. SMC senescence was also detected in TAAD specimens from both mice and humans...
August 14, 2016: Journal of Molecular and Cellular Cardiology
Yepeng Zhang, Hanfei Tang, JianPing Zhou, Zhao Liu, Changjian Liu, Tong Qiao, Min Zhou
BACKGROUND: Endovascular option has been proposed for a very limited and selected number of Stanford type A aortic dissection (TAAD) patients. We have performed a computed tomography (CT)-based TAAD study to explore appropriate endograft configurations for the ascending aortic pathology. METHODS: TAAD patients treated with optimal CT scans were retrospectively reviewed, and their entry tears (ETs) were identified using three-dimensional and multiplanar reconstructions in an EndoSize workstation...
2016: Clinical Interventions in Aging
Jean-Michaël Mazzella, Michael Frank, Patrick Collignon, Maud Langeois, Anne Legrand, Xavier Jeunemaitre, Juliette Albuisson
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ2 gene: c...
July 21, 2016: Clinical Genetics
Vivian S Lee, Carmen M Halabi, Erin P Hoffman, Nikkola Carmichael, Ignaty Leshchiner, Christine G Lian, Andrew J Bierhals, Dana Vuzman, Robert P Mecham, Natasha Y Frank, Nathan O Stitziel
Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of morbidity and mortality worldwide. Many individuals presenting with an inherited form of TAAD do not have causal mutations in the set of genes known to underlie disease. Using whole-genome sequencing in two first cousins with TAAD, we identified a missense mutation in the lysyl oxidase (LOX) gene (c.893T > G encoding p.Met298Arg) that cosegregated with disease in the family. Using clustered regularly interspaced short palindromic repeats (CRISPR)/clustered regularly interspaced short palindromic repeats-associated protein-9 nuclease (Cas9) genome engineering tools, we introduced the human mutation into the homologous position in the mouse genome, creating mice that were heterozygous and homozygous for the human allele...
August 2, 2016: Proceedings of the National Academy of Sciences of the United States of America
Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu, Tucheng Sun
BACKGROUND: Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and the genetic basis of TAADs remains to be elucidated. In this study, we assessed gene mutations in a Chinese population with TAADs. METHODS: A cohort of 68 non-syndromic familial TAAD Chinese patients was screened for the most common TAAD-causing genes (ACTA2, MYH11, TGFBR1, TGFBR2, and SMAD3) using high-resolution melting (HRM) analysis...
2016: BMC Medical Genetics
Elizabeth N Robertson, Denise van der Linde, Andrew G Sherrah, Michael P Vallely, Michael Wilson, Paul G Bannon, Richmond W Jeremy
BACKGROUND: Non-syndromal thoracic aortic aneurysm and dissection (ns-TAAD) is a genetic aortopathy, with uncertain incidence. This study documented the incidence of ns-TAAD and outcomes of family screening over 15years. METHODS: Consecutive series of 2385 patients with aortic disease in prospective registry (2000 to 2014), including 675 undergoing surgery. Diagnosis of ns-TAAD included family history, aortic imaging, tissue pathology and mutation testing. Screening was offered to relatives of ns-TAAD probands, with follow-up for affected individuals...
October 1, 2016: International Journal of Cardiology
Takatoshi Higashigawa, Noriyuki Kato, Shuji Chino, Takashi Hashimoto, Hideto Shimpo, Toshiya Tokui, Toru Mizumoto, Tomoaki Sato, Manabu Okabe, Hajime Sakuma
BACKGROUND: Type A aortic dissection (TAAD) is a rare complication associated with thoracic endovascular aortic repair (TEVAR). Although TAAD can result in catastrophic outcomes, the pathology of the condition has not been thoroughly clarified yet. METHODS: We retrospectively reviewed details from the medical records of 546 patients with diseases of the thoracic aorta (thoracic aortic aneurysm, n = 362; aortic dissection, n = 178; and fistula between the descending thoracic aorta and esophagus, n = 6) who underwent TEVAR in five hospitals from May 1997 through February 2015 to identify patients in whom TAAD developed during or after TEVAR...
June 14, 2016: Annals of Thoracic Surgery
Betti Giusti, Stefano Nistri, Elena Sticchi, Rosina De Cario, Rosanna Abbate, Gian Franco Gensini, Guglielmina Pepe
Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence. This condition may occur sporadically; nevertheless, it displays familial clustering in >20% of the cases. Family history confers a six- to twentyfold increased risk of TAAD and has to be considered in the identification and evaluation of patients needing an adequate clinical follow-up. Familial TAAD recognizes a number of potential etiologies with a significant genetic heterogeneity, in either syndromic or nonsyndromic forms of the manifestation...
2016: BioMed Research International
Guglielmina Pepe, Betti Giusti, Elena Sticchi, Rosanna Abbate, Gian Franco Gensini, Stefano Nistri
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs...
2016: Application of Clinical Genetics
Abdullrazak Hossien, Sandro Gesomino, Jos Maessen, Rüdiger Autschbach
We report a technique of multidimensional modeling and 3D printing in preplanning of Type A acute aortic dissection (TAAD) repair. doi: 10.1111/jocs.12772 (J Card Surg 2016;31:441-445).
July 2016: Journal of Cardiac Surgery
Ming Gong, Wei-Guo Ma, Xin-Liang Guan, Long-Fei Wang, Jia-Chen Li, Feng Lan, Li-Zhong Sun, Hong-Jia Zhang
BACKGROUND: Continued debates exist regarding the optimal temperature during hypothermic circulatory arrest (HCA) in aortic arch repair for patients with type A aortic dissection (TAAD). This study seeks to examine whether the use of moderate HCA in emergency aortic arch surgery provides comparable operative outcomes to deep HCA for patients with acute TAAD. METHODS: We prospectively enrolled 74 consecutive patients (mean age 47.7±9.8 years, 54 males) with acute TAAD, who underwent emergency total arch replacement and frozen elephant trunk implantation under HCA (18-28 °C) with unilateral selective antegrade cerebral perfusion (uSACP)...
May 2016: Journal of Thoracic Disease
Isabel Jiménez-Trujillo, Montserrat González-Pascual, Rodrigo Jiménez-García, Valentín Hernández-Barrera, José M de Miguel-Yanes, Manuel Méndez-Bailón, Javier de Miguel-Diez, Miguel Ángel Salinero-Fort, Napoleón Perez-Farinos, Pilar Carrasco-Garrido, Ana López-de-Andrés
To describe trends in the rates of discharge due to thoracic aortic aneurysm and dissection (TAAD) among patients with and without type 2 diabetes in Spain (2001-2012).We used national hospital discharge data to select all of the patients who were discharged from the hospital after TAAD. We focused our analysis on patients with TAAD in the primary diagnosis field. Discharges were grouped by diabetes status (diabetic or nondiabetic). Incidence was calculated overall and stratified by diabetes status. We divided the study period into 4 periods of 3 years each...
May 2016: Medicine (Baltimore)
J K Poninska, Z T Bilinska, M Franaszczyk, E Michalak, M Rydzanicz, E Szpakowski, A Pollak, B Milanowska, G Truszkowska, P Chmielewski, A Sioma, H Janaszek-Sitkowska, A Klisiewicz, I Michalowska, M Makowiecka-Ciesla, P Kolsut, P Stawinski, B Foss-Nieradko, M Szperl, J Grzybowski, P Hoffman, A Januszewicz, M Kusmierczyk, R Ploski
BACKGROUND: Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient and cost-effective examination of gene panels. Aim of the study was to define the diagnostic yield of NGS in the 51 TAAD patients and to look for genotype-phenotype correlations within families of the patients with TAAD. METHODS: 51 unrelated TAAD patients were examined by either whole exome sequencing or TruSight One sequencing panel...
2016: Journal of Translational Medicine
Siddharth Prakash, Shao-Qing Kuang, Ellen Regalado, Dongchuan Guo, Dianna Milewicz
Thoracic Aortic Aneurysms and Dissections (TAAD) are a major cause of death in the United States. The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. We hypothesized that genomic copy number variants (CNVs) contribute causally to early onset TAAD (ETAAD). We conducted a genome-wide SNP array analysis of ETAAD patients of European descent who were enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)...
2016: PloS One
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