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Dianna M. Milewicz - One of the best experts on this subject based on the ideXlab platform.
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Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease
'MDPI AG', 2021Co-Authors: Shreyas A. Bhave, Dianna M. Milewicz, Deborah A Nickerson, Dongchuan Guo, Stoyan N. Angelov, Michael J. Bamshad, Mary C. WallingfordAbstract:Thoracic Aortic aneurysms (TAAs) that progress to acute thoracic Aortic dissections (TADs) are life-threatening vascular events that have been associated with altered transforming growth factor (TGF) β signaling. In addition to TAA, multiple genetic vascular disorders, including hereditary hemorrhagic telangiectasia (HHT), involve altered TGFβ signaling and vascular malformations. Due to the importance of TGFβ, genomic variant databases have been curated for activin receptor-like kinase 1 (ALK1) and endoglin (ENG). This case report details seven variants in SMAD4 that are associated with either heritable or early-onset Aortic dissections and compares them to pathogenic exon variants in gnomAD v2.1.1. The TAA and TAD variants were identified through whole exome sequencing of 346 families with unrelated heritable thoracic Aortic Disease (HTAD) and 355 individuals with early-onset (age ≤ 56 years old) thoracic Aortic dissection (ESTAD). An allele frequency filter of less than 0.05% was applied in the Genome Aggregation Database (gnomAD exome v2.1.1) with a combined annotation-dependent depletion score (CADD) greater than 20. These seven variants also have a higher REVEL score (>0.2), indicating pathogenic potential. Further in vivo and in vitro analysis is needed to evaluate how these variants affect SMAD4 mRNA stability and protein activity in association with thoracic Aortic Disease
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type b Aortic dissection in young individuals with confirmed and presumed heritable thoracic Aortic Disease
The Annals of Thoracic Surgery, 2020Co-Authors: Sherene Shalhub, Dianna M. Milewicz, Scott A. Lemaire, Kim A Eagle, Artur Evangelista, Mary J Roman, Qianzi Zhang, Genetically Triggered Thoracic Aortic AneurysmsAbstract:Background To investigate clinical course of patients with type B Aortic dissection (TBAD) occurring at a young age with confirmed or suspected heritable thoracic Aortic Disease. Methods Individuals with TBAD occurring at an age Results A total of 150 individuals met inclusion criteria (mean age at TBAD, 36.9 ± 9 years): 73 MFS TBAD, 42 FTBAD, and 35 sporadic TBAD. The cohort of sporadic TBAD had more male patients (71.4%) and fewer individuals of European descent (51.4%) compared with MFS TBAD (57.5% male, 84.9% European descent) and FTBAD (59.5% male, 90.5% European descent). There was a stepwise increase in hypertension prevalence across the cohorts (28.8% MFS, 59.5% FTBAD, 71.4% sporadic TBAD, P Conclusions Control of hypertension is an essential component of care to decrease the risk of TBAD. Over half of the young individuals with TBAD require Aortic repair, and individuals with MFS undergo a larger anatomical extent of repair after TBAD.
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heritable thoracic Aortic Disease single gene disorders predisposing to thoracic Aortic aneurysms and acute Aortic dissections
2020Co-Authors: Shaine A Morris, Dianna M. MilewiczAbstract:Abstract Thoracic Aortic Disease, consisting of thoracic Aortic aneurysm, acute Aortic dissection, and Aortic rupture, can be triggered by genetic variants. Marfan syndrome established that mutations in a single gene (FBN1) can predispose to highly penetrant thoracic Aortic Disease. Subsequently, additional genes were identified that similarly confer a high risk for thoracic Aortic Disease; currently 11 genes are confirmed to predispose to thoracic Aortic Disease with autosomal dominant inheritance. These validated genes encode proteins involved in vascular SMC contraction, the extracellular matrix, and transforming growth factor (TGF)-β signaling pathways and include the following genes: FBN1 (encodes fibrillin-1), LOX (lysyl oxidase), MYH11 (smooth muscle myosin heavy chain 11), ACTA2 (smooth muscle α-actin 2), MYLK (myosin light chain kinase), PRKG1 (cGMP-dependent protein kinase type I), COL3A1 (α-1 procollagen, type III), TGFBR2 (TGF-β receptor type II), TGFBR1 (TGF-β receptor type I), TGFB2 (TGF-β2), and SMAD3 (mothers against decapentaplegic homolog 3). Clinical data support that the specific gene for thoracic Aortic Disease should dictate the clinical management of Aortic and other vascular Diseases in these patients, including the timing of surgical repair of an aneurysm and the risk for additional vascular Diseases.
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altered smooth muscle cell force generation as a driver of thoracic Aortic aneurysms and dissections
Arteriosclerosis Thrombosis and Vascular Biology, 2017Co-Authors: Dianna M. Milewicz, Ellen S. Regalado, Kristine E Kamm, Dongchuan Guo, Kathleen M Trybus, Lee L Sweeney, James T. StullAbstract:The importance of maintaining contractile function in Aortic smooth muscle cells (SMCs) is evident by the fact that heterozygous mutations in the major structural proteins or kinases controlling contraction lead to the formation of aneurysms of the ascending thoracic aorta that predispose to life-threatening Aortic dissections. Force generation by SMC requires ATP-dependent cyclic interactions between filaments composed of SMC-specific isoforms of α-actin (encoded by ACTA2) and myosin heavy chain (MYH11). ACTA2 and MYH11 mutations are predicted or have been shown to disrupt this cyclic interaction predispose to thoracic Aortic Disease. Movement of the myosin motor domain is controlled by phosphorylation of the regulatory light chain on the myosin filament, and loss-of-function mutations in the dedicated kinase for this phosphorylation, myosin light chain kinase (MYLK) also predispose to thoracic Aortic Disease. Finally, a mutation in the cGMP-activated protein kinase (PRKG1) results in constitutive activation of the kinase in the absence of cGMP, thus driving SMC relaxation in part through increased dephosphorylation of the regulatory light chain and predisposes to thoracic Aortic Disease. Furthermore, SMCs cannot generate force without connections to the extracellular matrix through focal adhesions, and mutations in the major protein in the extracellular matrix, fibrillin-1, linking SMCs to the matrix also cause thoracic Aortic Disease in individuals with Marfan syndrome. Thus, disruption of the ability of the Aortic SMC to generate force through the elastin-contractile units in response to pulsatile blood flow may be a primary driver for thoracic Aortic aneurysms and dissections.
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heritable thoracic Aortic Disease overview
2016Co-Authors: Dianna M. Milewicz, Ellen S. RegaladoAbstract:Purpose The goals of this overview on heritable thoracic Aortic aneurysms and dissections (shortened in this GeneReview to heritable thoracic Aortic Disease) are the following. Goal 1 To describe the clinical characteristics of thoracic Aortic Disease Goal 2 To review the causes of heritable thoracic Aortic Disease and risk assessment for thoracic Aortic aneurysm and dissection by gene Goal 3 To provide an evaluation strategy to identify the genetic cause of thoracic Aortic Disease in a proband (when possible) Goal 4 To inform genetic risk assessment in family members of a proband Goal 5 To inform (when possible) management regarding, surveillance for thoracic Aortic aneurysm, and medical/surgical intervention based on the genetic cause
Lars G Svensson - One of the best experts on this subject based on the ideXlab platform.
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surgery for Aortic dilatation in patients with bicuspid Aortic valves a statement of clarification from the american college of cardiology american heart association task force on clinical practice guidelines
The Journal of Thoracic and Cardiovascular Surgery, 2016Co-Authors: Loren F Hiratzka, Robert O. Bonow, Lars G Svensson, Mark A Creager, Eric M Isselbacher, Rick A Nishimura, Robert A Guyton, Thoralf M SundtAbstract:Two guidelines from the American College of Cardiology (ACC), the American Heart Association (AHA), and collaborating societies address the risk of Aortic dissection in patients with bicuspid Aortic valves and severe Aortic enlargement: The "2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease" (J Am Coll Cardiol. 2010;55:e27-130) and the "2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease" (J Am Coll Cardiol. 2014;63:e57-185). However, the 2 guidelines differ with regard to the recommended threshold of Aortic root or ascending Aortic dilatation that would justify surgical intervention in patients with bicuspid Aortic valves. The ACC and AHA therefore convened a subcommittee representing members of the 2 guideline writing committees to review the evidence, reach consensus, and draft a statement of clarification for both guidelines. This statement of clarification uses the ACC/AHA revised structure for delineating the Class of Recommendation and Level of Evidence to provide recommendations that replace those contained in Section 9.2.2.1 of the thoracic Aortic Disease guideline and Section 5.1.3 of the valvular heart Disease guideline.
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surgery for Aortic dilatation in patients with bicuspid Aortic valves a statement of clarification from the american college of cardiology american heart association task force on clinical practice guidelines
Circulation, 2016Co-Authors: Loren F Hiratzka, Robert O. Bonow, Lars G Svensson, Mark A Creager, Eric M Isselbacher, Rick A Nishimura, Robert A Guyton, Thoralf M Sundt, Jonathan L Halperin, Glenn N LevineAbstract:Two guidelines from the American College of Cardiology (ACC), the American Heart Association (AHA), and collaborating societies address the risk of Aortic dissection in patients with bicuspid Aortic valves and severe Aortic enlargement: the "2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease" (Circulation. 2010;121:e266-e369) and the "2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease" (Circulation. 2014;129:e521-e643). However, the 2 guidelines differ with regard to the recommended threshold of Aortic root or ascending Aortic dilatation that would justify surgical intervention in patients with bicuspid Aortic valves. The ACC and AHA therefore convened a subcommittee representing members of the 2 guideline writing committees to review the evidence, reach consensus, and draft a statement of clarification for both guidelines. This statement of clarification uses the ACC/AHA revised structure for delineating the Class of Recommendation and Level of Evidence to provide recommendations that replace those contained in Section 9.2.2.1 of the thoracic Aortic Disease guideline and Section 5.1.3 of the valvular heart Disease guideline.
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prophylactic stage 1 elephant trunk for moderately dilated descending aorta in patients with predominantly proximal Disease
The Journal of Thoracic and Cardiovascular Surgery, 2015Co-Authors: Jay J Idrees, Eric E Roselli, Muhammad Aftab, Charles M Wojnarski, Ke Feng, Douglas R Johnston, Edward G Soltesz, Joseph F Sabik, Lars G SvenssonAbstract:Objective Staged elephant trunk (ET) repair is a commonly performed procedure for extensive Aortic Disease. A significant proportion of patients with predominantly proximal Aortic pathology often have in addition a moderately dilated descending aorta (<5 cm) that can progress over time. Objectives were to characterize patients, determine completion rate after prophylactic stage 1 ET, and assess outcomes.
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endovascular versus open elephant trunk completion for extensive Aortic Disease
The Journal of Thoracic and Cardiovascular Surgery, 2013Co-Authors: Eric E Roselli, Sreekumar Subramanian, Zhiyuan Sun, Jahanzaib Idrees, Edward R Nowicki, Eugene H Blackstone, Roy K Greenberg, Lars G Svensson, Bruce W LytleAbstract:Objectives To compare the outcomes between patients undergoing endovascular (EEC) or open (OEC) approaches to second-stage elephant trunk completion (EC). Methods From 1993 to 2010, 225 patients underwent second-stage EC (EEC, n = 92; OEC, n = 133). Propensity matching was performed for a fair comparison. Results The EEC patients were older, more likely to have atrial fibrillation, and had a smaller proximal aorta. The 30-day mortality was 6.2% (6.5% EEC vs 6% OEC, P = .88). No difference was found in bleeding (8.8%), stroke (3%), renal failure (4%), or spinal cord injury (4%); however, the OEC patients required tracheostomy more often (10 vs 1, P = .014). Survival after second-stage EC at 6 months and 1 and 5 years was 91%, 90%, and 77%, respectively. Survival and major morbidity did not differ after matching (44 pairs). However, the EEC group had shorter stays (9.9 ± 13 vs 13 ± 9 days, P P = .0001) than did the OEC group. This was maintained after matching. During follow-up, 32 endoleaks (3 type I, 27 type II, 2 type III) occurred; 26 (28%) EEC and 13 of 76 (17%) OEC patients underwent reoperation. The approach was not related to the risk of death in either hazard phase, but a larger descending diameter predicted a greater risk in the early phase. Conclusions Death and complications occur similarly after OEC or EEC. The early toll might be greater after OEC, at the cost of reintervention for EEC. EEC expands the options to older patients and allows for earlier completion. Second-stage repair should not be delayed, and all patients require lifelong imaging surveillance.
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antegrade delivery of stent grafts to treat complex thoracic Aortic Disease
The Annals of Thoracic Surgery, 2010Co-Authors: Eric E Roselli, Lars G Svensson, Edward G Soltesz, Tara M Mastracci, Bruce W LytleAbstract:Background Thoracic Aortic Disease involving the Aortic arch presents a challenge to cardiovascular surgeons. The purpose of this study was to establish the safety and efficacy of antegrade delivery techniques of Aortic stent grafting for the treatment of high-risk, complex thoracic Aortic Disease. Methods From April 2007 to December 2009, 38 patients underwent stent graft repair of complex thoracic Aortic Diseases not otherwise amenable to standard retrograde delivery. Chart review, query of the Social Security Death Index, and three-dimensional analysis of computed tomography was performed. Indications were elective (n = 17), urgent (n = 11), or emergent (n = 10). Causes included coarctation (n = 1), acute Aortic dissection (n = 4), traumatic transection (n = 2), and aneurysm or pseudoaneurysm (n = 31), of which 6 were ruptured. Sites of delivery included axillary (n = 4), ascending aorta (n = 18), and direct Aortic placement (frozen elephant trunk, n=16). Eleven were performed off-pump, 4 were performed on pump with a beating heart, 3 with cardiac arrest, and 20 under deep hypothermic circulatory arrest. Delivery was facilitated by transesophageal echocardiography alone (n = 14), or with fluoroscopy (n = 24). All devices used were commercially available (TAG, 18; Talent, 1; TX2, 19). Concomitant procedures were performed in 26 patients including 17 ascending repairs, 16 coronary artery bypass graftings, and 4 Aortic valve replacements. Results Technical success was achieved in 97% (37 of 38 patients). Hospital mortality was 10% (n = 4), and serious complications included stroke (n = 4), paraparesis (transient n=3, persistent n=1), renal failure (n = 4), and respiratory failure (n = 12). Mean length of hospital stay was 14.7 days (range, 4 to 36 days), and 6.7 days (range, 1 to 20 days) in the intensive care unit. Overall survival was 74% at median follow-up of 1.2 ± 0.8 years. Ten endoleaks in 9 patients (8 type II, 2 type I) required 3 late reinterventions. Conclusions Antegrade delivery of commercially available stent grafts to treat high-risk, complex thoracic Aortic Diseases is feasible with a high rate of technical success and good intermediate-term outcomes. Further evaluation of these alternative stent graft delivery techniques is warranted.
Ellen S. Regalado - One of the best experts on this subject based on the ideXlab platform.
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genetics and precision medicine heritable thoracic Aortic Disease
Medical Clinics of North America, 2019Co-Authors: Erin Demo, Ellen S. Regalado, Christina Rigelsky, Andrea L Rideout, Madeline Graf, Mitchel Pariani, Gretchen MaccarrickAbstract:Heritable thoracic Aortic Disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.
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Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection
Journal of the American College of Cardiology, 2017Co-Authors: Ellen M. Hostetler, Richard J. Kulmacz, Gentac Registry Investigators, Deborah A Nickerson, Suzanne M Leal, Scott A. Lemaire, Di Zhang, Ellen S. RegaladoAbstract:An acute Aortic dissection is a life-threatening cardiovascular condition that is preventable if individuals at risk are identified. Pathogenic variants in 11 genes confer a highly penetrant, dominantly inherited risk for Aortic aneurysms and dissections with or without syndromic features (e.g.,
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altered smooth muscle cell force generation as a driver of thoracic Aortic aneurysms and dissections
Arteriosclerosis Thrombosis and Vascular Biology, 2017Co-Authors: Dianna M. Milewicz, Ellen S. Regalado, Kristine E Kamm, Dongchuan Guo, Kathleen M Trybus, Lee L Sweeney, James T. StullAbstract:The importance of maintaining contractile function in Aortic smooth muscle cells (SMCs) is evident by the fact that heterozygous mutations in the major structural proteins or kinases controlling contraction lead to the formation of aneurysms of the ascending thoracic aorta that predispose to life-threatening Aortic dissections. Force generation by SMC requires ATP-dependent cyclic interactions between filaments composed of SMC-specific isoforms of α-actin (encoded by ACTA2) and myosin heavy chain (MYH11). ACTA2 and MYH11 mutations are predicted or have been shown to disrupt this cyclic interaction predispose to thoracic Aortic Disease. Movement of the myosin motor domain is controlled by phosphorylation of the regulatory light chain on the myosin filament, and loss-of-function mutations in the dedicated kinase for this phosphorylation, myosin light chain kinase (MYLK) also predispose to thoracic Aortic Disease. Finally, a mutation in the cGMP-activated protein kinase (PRKG1) results in constitutive activation of the kinase in the absence of cGMP, thus driving SMC relaxation in part through increased dephosphorylation of the regulatory light chain and predisposes to thoracic Aortic Disease. Furthermore, SMCs cannot generate force without connections to the extracellular matrix through focal adhesions, and mutations in the major protein in the extracellular matrix, fibrillin-1, linking SMCs to the matrix also cause thoracic Aortic Disease in individuals with Marfan syndrome. Thus, disruption of the ability of the Aortic SMC to generate force through the elastin-contractile units in response to pulsatile blood flow may be a primary driver for thoracic Aortic aneurysms and dissections.
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heritable thoracic Aortic Disease overview
2016Co-Authors: Dianna M. Milewicz, Ellen S. RegaladoAbstract:Purpose The goals of this overview on heritable thoracic Aortic aneurysms and dissections (shortened in this GeneReview to heritable thoracic Aortic Disease) are the following. Goal 1 To describe the clinical characteristics of thoracic Aortic Disease Goal 2 To review the causes of heritable thoracic Aortic Disease and risk assessment for thoracic Aortic aneurysm and dissection by gene Goal 3 To provide an evaluation strategy to identify the genetic cause of thoracic Aortic Disease in a proband (when possible) Goal 4 To inform genetic risk assessment in family members of a proband Goal 5 To inform (when possible) management regarding, surveillance for thoracic Aortic aneurysm, and medical/surgical intervention based on the genetic cause
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recurrent gain of function mutation in prkg1 causes thoracic Aortic aneurysms and acute Aortic dissections
American Journal of Human Genetics, 2013Co-Authors: Dongchuan Guo, Ellen S. Regalado, Darren E Casteel, Regie Lyn P Santoscortez, Limin Gong, Jeong Joo Kim, Sarah Dyack, Gabrielle S Horne, Guijuan Chang, Guillaume JondeauAbstract:Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic Aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic Aortic Disease and subsequent Sanger sequencing of additional probands with familial thoracic Aortic Disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four families. This mutation segregated with Aortic Disease in these families with a combined two-point LOD score of 7.88. The majority of affected individuals presented with acute Aortic dissections (63%) at relatively young ages (mean 31 years, range 17-51 years). PRKG1 encodes type I cGMP-dependent protein kinase (PKG-1), which is activated upon binding of cGMP and controls SMC relaxation. Although the p.Arg177Gln alteration disrupts binding to the high-affinity cGMP binding site within the regulatory domain, the altered PKG-1 is constitutively active even in the absence of cGMP. The increased PKG-1 activity leads to decreased phosphorylation of the myosin regulatory light chain in fibroblasts and is predicted to cause decreased contraction of vascular SMCs. Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic Aortic Disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime.
Scott A. Lemaire - One of the best experts on this subject based on the ideXlab platform.
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a 23 year experience with the reversed elephant trunk technique for staged repair of extensive thoracic Aortic aneurysm
The Journal of Thoracic and Cardiovascular Surgery, 2020Co-Authors: Joseph S Coselli, Qianzi Zhang, Heidi M Krause, Susan Y Green, Hiruni S Amarasekara, Matt D Price, Ourania Preventza, Scott A. LemaireAbstract:Abstract Objective The reversed elephant trunk technique permits staged repair of extensive thoracic Aortic aneurysm in patients whose distal (ie, descending thoracic and thoracoabdominal) aorta is symptomatic or disproportionately large compared with their proximal aorta (ie, ascending aorta and transverse Aortic arch). We present our 23-year experience with the reversed elephant trunk approach. Methods Between 1994 and 2017, 94 patients (median age 62 [46-69] years) underwent stage 1 reversed elephant trunk repair of the distal aorta. Fifty-three patients (56%) had Aortic dissection, and 31 patients (33%) had heritable thoracic Aortic Disease. Eighty-eight operations (94%) were Crawford extent I or II thoracoabdominal Aortic repairs. Twenty-seven patients (29%) underwent subsequent stage 2 repair of the proximal aorta; 14 patients (52%) required redo median sternotomy. The median time between the stage 1 and 2 operations was 18.8 (4.8-69.3) months. Results The operative mortality was 10% (9/94) for stage 1 repairs and 4% (1/27) for stage 2 repairs; 1 patient with heritable thoracic Aortic Disease died after stage 1 repair (1/31, 3%), and 1 patient died after stage 2 repair (1/13, 8%). Two patients (2%) had ruptures after stage 1 repair; 1 resulted in death, and 1 precipitated emergency stage 2 repair. In total, 36 patients (38%) who survived stage 1 repair died before stage 2 reversed elephant trunk completion repair could be performed. Conclusions Managing extensive Aortic aneurysm with the 2-stage reversed elephant trunk technique yields acceptable short-term outcomes. This technique is useful for the reversed elephant trunk in patients who require distal Aortic repair before proximal repair and is particularly effective in patients with heritable thoracic Aortic Disease. The low number of patients returning for completion repair is concerning. Rigorous surveillance is needed.
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type b Aortic dissection in young individuals with confirmed and presumed heritable thoracic Aortic Disease
The Annals of Thoracic Surgery, 2020Co-Authors: Sherene Shalhub, Dianna M. Milewicz, Scott A. Lemaire, Kim A Eagle, Artur Evangelista, Mary J Roman, Qianzi Zhang, Genetically Triggered Thoracic Aortic AneurysmsAbstract:Background To investigate clinical course of patients with type B Aortic dissection (TBAD) occurring at a young age with confirmed or suspected heritable thoracic Aortic Disease. Methods Individuals with TBAD occurring at an age Results A total of 150 individuals met inclusion criteria (mean age at TBAD, 36.9 ± 9 years): 73 MFS TBAD, 42 FTBAD, and 35 sporadic TBAD. The cohort of sporadic TBAD had more male patients (71.4%) and fewer individuals of European descent (51.4%) compared with MFS TBAD (57.5% male, 84.9% European descent) and FTBAD (59.5% male, 90.5% European descent). There was a stepwise increase in hypertension prevalence across the cohorts (28.8% MFS, 59.5% FTBAD, 71.4% sporadic TBAD, P Conclusions Control of hypertension is an essential component of care to decrease the risk of TBAD. Over half of the young individuals with TBAD require Aortic repair, and individuals with MFS undergo a larger anatomical extent of repair after TBAD.
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Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection
Journal of the American College of Cardiology, 2017Co-Authors: Ellen M. Hostetler, Richard J. Kulmacz, Gentac Registry Investigators, Deborah A Nickerson, Suzanne M Leal, Scott A. Lemaire, Di Zhang, Ellen S. RegaladoAbstract:An acute Aortic dissection is a life-threatening cardiovascular condition that is preventable if individuals at risk are identified. Pathogenic variants in 11 genes confer a highly penetrant, dominantly inherited risk for Aortic aneurysms and dissections with or without syndromic features (e.g.,
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spectrum of Aortic operations in 300 patients with confirmed or suspected marfan syndrome
The Annals of Thoracic Surgery, 2006Co-Authors: Dianna M. Milewicz, Scott A. Lemaire, Stacey A Carter, Irina V Volguina, Anne T Laux, Garry W BorsatoAbstract:Background Cardiovascular Disease is the main cause of morbidity and mortality in patients with Marfan syndrome. Many patients with presumed Marfan syndrome do not meet current diagnostic criteria. This study reviews the surgical aspects of Aortic Disease in 300 patients referred with the diagnosis of Marfan syndrome. Methods During a 16-year period, 300 patients with presumed Marfan syndrome underwent 398 operations on the aorta and branch arteries, including 125 Aortic root operations, 59 Aortic arch repairs, 31 descending thoracic Aortic repairs, and 178 thoracoabdominal Aortic repairs. Based on medical record review, patients were classified as confirmed Marfan syndrome if documented features satisfied current diagnostic criteria; patients not meeting these criteria were classified as suspected Marfan syndrome. Results There were 17 operative deaths (4.3%) after the 398 operations. Survival after the initial referral operation was 96.2% ± 1.5% at 1 year, 82.7% ± 2.4% at 5 years, and 74.6% ± 3.1% at 10 years. Presentations, operative details, and outcomes were remarkably similar in the 137 patients (45.7%) with confirmed Marfan syndrome and the 163 patients (54.3%) with suspected Marfan syndrome. Freedom from repair failure, however, was significantly better in patients with confirmed Marfan syndrome (90.3% ± 2.3% at 10 years) than in those with suspected Marfan syndrome (82.0% ± 3.1% at 10 years; p = 0.001). Conclusions Operative treatment of the full spectrum of Aortic Disease in Marfan patients enables excellent long-term survival. Similarities in surgical aspects of Aortic Disease suggest that patients with features of Marfan syndrome who do not meet diagnostic criteria should be managed in the same manner as patients with confirmed Marfan syndrome.
Eric E Roselli - One of the best experts on this subject based on the ideXlab platform.
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risk of adding prophylactic aorta replacement to a cardiac operation
The Journal of Thoracic and Cardiovascular Surgery, 2020Co-Authors: Jay J Idrees, Eric E Roselli, Eugene H Blackstone, Douglas R Johnston, Edward G Soltesz, Ashley M Lowry, Michael Z Tong, Gosta Pettersson, Brian P Griffin, Marc A GillinovAbstract:Abstract Objective The study objective was to determine whether adding prophylactic aorta replacement increases the risk of a cardiac operation when cardiac rather than Aortic Disease is the primary indication for operation. Methods Patients undergoing cardiac operations with aorta replacement (cardioAortic group), with or without circulatory arrest, were propensity matched to identify patients whose combined operation was not primarily indicated by Aortic Disease (n = 684). These patients were further propensity matched without accounting for thoracic-Aortic measurements to patients undergoing cardiac operations without aorta replacement (cardiac-surgery only group), 647 pairs, for comparing outcomes. Results Most (n = 431/503 [86%]) propensity-matched patients undergoing cardioAortic operations had ascending aorta dilatation with a maximum Aortic diameter of less than 5.5 cm. There was no evidence of an incremental increase in risk of in-hospital stroke (cardioAortic, n = 9/1.4% vs cardiac only, n = 7/1.1%; P = .6) or mortality (cardioAortic, n = 6/0.93% vs cardiac only, n = 3/0.46%; P = .5). Unmatched patients undergoing concomitant Aortic surgery had advanced Aortic Disease distal to the ascending aorta (arch, 3.8 ± 0.98 cm vs 3.2 ± 0.51 cm; descending, 4.4 ± 1.7 cm vs 3.2 ± 0.99 cm) as the primary indication for their operation and had a high occurrence of in-hospital stroke (6.5% vs 1.5%, P = .0007) and death (7% vs 1.2%, P = .0001). Conclusions Prophylactic aorta replacement can be safely performed during a cardioAortic operation, without added penalty, when Aortic Disease is less severe and not the primary indication for surgery. Risks after an aorta replacement combined with cardiac surgery can be substantial, however, when advanced Aortic Disease is the primary indication for operation. These distinctive risks should be taken into consideration at the time of surgical decision-making.
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prophylactic stage 1 elephant trunk for moderately dilated descending aorta in patients with predominantly proximal Disease
The Journal of Thoracic and Cardiovascular Surgery, 2015Co-Authors: Jay J Idrees, Eric E Roselli, Muhammad Aftab, Charles M Wojnarski, Ke Feng, Douglas R Johnston, Edward G Soltesz, Joseph F Sabik, Lars G SvenssonAbstract:Objective Staged elephant trunk (ET) repair is a commonly performed procedure for extensive Aortic Disease. A significant proportion of patients with predominantly proximal Aortic pathology often have in addition a moderately dilated descending aorta (<5 cm) that can progress over time. Objectives were to characterize patients, determine completion rate after prophylactic stage 1 ET, and assess outcomes.
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endovascular versus open elephant trunk completion for extensive Aortic Disease
The Journal of Thoracic and Cardiovascular Surgery, 2013Co-Authors: Eric E Roselli, Sreekumar Subramanian, Zhiyuan Sun, Jahanzaib Idrees, Edward R Nowicki, Eugene H Blackstone, Roy K Greenberg, Lars G Svensson, Bruce W LytleAbstract:Objectives To compare the outcomes between patients undergoing endovascular (EEC) or open (OEC) approaches to second-stage elephant trunk completion (EC). Methods From 1993 to 2010, 225 patients underwent second-stage EC (EEC, n = 92; OEC, n = 133). Propensity matching was performed for a fair comparison. Results The EEC patients were older, more likely to have atrial fibrillation, and had a smaller proximal aorta. The 30-day mortality was 6.2% (6.5% EEC vs 6% OEC, P = .88). No difference was found in bleeding (8.8%), stroke (3%), renal failure (4%), or spinal cord injury (4%); however, the OEC patients required tracheostomy more often (10 vs 1, P = .014). Survival after second-stage EC at 6 months and 1 and 5 years was 91%, 90%, and 77%, respectively. Survival and major morbidity did not differ after matching (44 pairs). However, the EEC group had shorter stays (9.9 ± 13 vs 13 ± 9 days, P P = .0001) than did the OEC group. This was maintained after matching. During follow-up, 32 endoleaks (3 type I, 27 type II, 2 type III) occurred; 26 (28%) EEC and 13 of 76 (17%) OEC patients underwent reoperation. The approach was not related to the risk of death in either hazard phase, but a larger descending diameter predicted a greater risk in the early phase. Conclusions Death and complications occur similarly after OEC or EEC. The early toll might be greater after OEC, at the cost of reintervention for EEC. EEC expands the options to older patients and allows for earlier completion. Second-stage repair should not be delayed, and all patients require lifelong imaging surveillance.
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antegrade delivery of stent grafts to treat complex thoracic Aortic Disease
The Annals of Thoracic Surgery, 2010Co-Authors: Eric E Roselli, Lars G Svensson, Edward G Soltesz, Tara M Mastracci, Bruce W LytleAbstract:Background Thoracic Aortic Disease involving the Aortic arch presents a challenge to cardiovascular surgeons. The purpose of this study was to establish the safety and efficacy of antegrade delivery techniques of Aortic stent grafting for the treatment of high-risk, complex thoracic Aortic Disease. Methods From April 2007 to December 2009, 38 patients underwent stent graft repair of complex thoracic Aortic Diseases not otherwise amenable to standard retrograde delivery. Chart review, query of the Social Security Death Index, and three-dimensional analysis of computed tomography was performed. Indications were elective (n = 17), urgent (n = 11), or emergent (n = 10). Causes included coarctation (n = 1), acute Aortic dissection (n = 4), traumatic transection (n = 2), and aneurysm or pseudoaneurysm (n = 31), of which 6 were ruptured. Sites of delivery included axillary (n = 4), ascending aorta (n = 18), and direct Aortic placement (frozen elephant trunk, n=16). Eleven were performed off-pump, 4 were performed on pump with a beating heart, 3 with cardiac arrest, and 20 under deep hypothermic circulatory arrest. Delivery was facilitated by transesophageal echocardiography alone (n = 14), or with fluoroscopy (n = 24). All devices used were commercially available (TAG, 18; Talent, 1; TX2, 19). Concomitant procedures were performed in 26 patients including 17 ascending repairs, 16 coronary artery bypass graftings, and 4 Aortic valve replacements. Results Technical success was achieved in 97% (37 of 38 patients). Hospital mortality was 10% (n = 4), and serious complications included stroke (n = 4), paraparesis (transient n=3, persistent n=1), renal failure (n = 4), and respiratory failure (n = 12). Mean length of hospital stay was 14.7 days (range, 4 to 36 days), and 6.7 days (range, 1 to 20 days) in the intensive care unit. Overall survival was 74% at median follow-up of 1.2 ± 0.8 years. Ten endoleaks in 9 patients (8 type II, 2 type I) required 3 late reinterventions. Conclusions Antegrade delivery of commercially available stent grafts to treat high-risk, complex thoracic Aortic Diseases is feasible with a high rate of technical success and good intermediate-term outcomes. Further evaluation of these alternative stent graft delivery techniques is warranted.