The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research

The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research

miRNA Regulation of Cell Phenotype and Parietal Remodeling in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms: Differences and Similarities
Int J Mol Sci. 2024 Feb 24;25(5):2641. doi: 10.3390/ijms25052641.ABSTRACTAortic aneurysms are a serious health concern as their rupture leads to high morbidity and mortality. Abdominal aortic aneurysms (AAAs) and thoracic aortic aneurysms (TAAs) exhibit differences and similarities in their pathophysiological and pathogenetic features. AAA is a multifactorial disease, mainly associated with atherosclerosis, characterized by a relevant inflammatory response and calcification. TAA is rarely associated with atherosclerosis and in some cases is associated with genetic mutations such as Marfan syndrome (MFS) and bicuspid aortic...
Source: Atherosclerosis - March 13, 2024 Category: Cardiology Authors: Sonia Terriaca Amedeo Ferlosio Maria Giovanna Scioli Francesca Coppa Fabio Bertoldo Calogera Pisano Beatrice Belmonte Carmela Rita Balistreri Augusto Orlandi Source Type: research

miRNA Regulation of Cell Phenotype and Parietal Remodeling in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms: Differences and Similarities
Int J Mol Sci. 2024 Feb 24;25(5):2641. doi: 10.3390/ijms25052641.ABSTRACTAortic aneurysms are a serious health concern as their rupture leads to high morbidity and mortality. Abdominal aortic aneurysms (AAAs) and thoracic aortic aneurysms (TAAs) exhibit differences and similarities in their pathophysiological and pathogenetic features. AAA is a multifactorial disease, mainly associated with atherosclerosis, characterized by a relevant inflammatory response and calcification. TAA is rarely associated with atherosclerosis and in some cases is associated with genetic mutations such as Marfan syndrome (MFS) and bicuspid aortic...
Source: Atherosclerosis - March 13, 2024 Category: Cardiology Authors: Sonia Terriaca Amedeo Ferlosio Maria Giovanna Scioli Francesca Coppa Fabio Bertoldo Calogera Pisano Beatrice Belmonte Carmela Rita Balistreri Augusto Orlandi Source Type: research

Axillary vs Femoral Arterial Cannulation in Acute Type A Dissection: International Multicenter Data
CONCLUSIONS: Axillary cannulation is associated with more stable ATAD presentation, but more extensive intervention compared to Femoral. Both have equivalent early mortality, stroke, tamponade, and malperfusion outcomes after statistical adjustment.PMID:38458510 | DOI:10.1016/j.athoracsur.2024.02.026 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - March 8, 2024 Category: Cardiovascular & Thoracic Surgery Authors: Malak Elbatarny Santi Trimarchi Amit Korach Marco Di Eusanio Davide Pacini Raffi Bekeredjian Truls Myrmel Joseph E Bavaria Nimesh D Desai Ibrahim Sultan Derek R Brinster Chih-Wen Pai Kim A Eagle Himanshu J Patel Mark D Peterson IRAD Investigators Source Type: research

Coexistence of type 2 diabetes mellitus, arginine vasopressin deficiency, and Marfan syndrome: A case report
For those patients with type 2 diabetes mellitus, the existence of arginine vasopressin deficiency should be considered when polyuria is not in accordance with the blood glucose levels, especially for those with a low urine specific gravity. Specific symptoms or signs help to identify Marfan syndrome early, and genetic testing of theFBN1 pathogenetic variant helps to make a definitive diagnosis. AbstractDiabetes mellitus (DM) and arginine vasopressin deficiency (AVP-D) are characterized by polyuria. Marfan syndrome is an autosomal dominant disorder caused by pathogenetic variants inFBN1. Here, we report a patient with type...
Source: Journal of Diabetes Investigation - March 2, 2024 Category: Endocrinology Authors: Yunyi Le, Jingjing Zhang, Tianpei Hong, Jin Yang Tags: Case Report Source Type: research

Quality of life in young patients with acute type a aortic dissection in China: comparison with Marfan syndrome and non-Marfan syndrome
There is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with Marfan syndrome. (Source: BMC Cardiovascular Disorders)
Source: BMC Cardiovascular Disorders - February 29, 2024 Category: Cardiology Authors: Xin-fan Lin, Lin-feng Xie, Zhao-feng Zhang, Jian He, Yu-ling Xie, Xiao-fu Dai and Liang-wan Chen Tags: Research Source Type: research

Association of ocular manifestations of Marfan syndrome with cardiovascular complications
To evaluate associations between ocular manifestations of Marfan syndrome and cardiovascular complications. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - February 23, 2024 Category: Opthalmology Authors: Elaine M. Tran, Karen M. Wai, Andrea L. Kossler, Prithvi Mruthyunjaya, Ehsan Rahimy, Euna B. Koo Tags: Original Articles Source Type: research

Biometric and corneal characteristics in marfan syndrome with ectopia lentis
CONCLUSION: Increased axial length, flatter and thicker corneas with higher regular astigmatism, normal densitometry, normal corneal biomechanical indices and normal posterior elevation were observed in Marfan patients with EL.PMID:38382278 | DOI:10.1016/j.jfo.2024.104096 (Source: Journal Francais d Ophtalmologie)
Source: Journal Francais d Ophtalmologie - February 21, 2024 Category: Opthalmology Authors: L Izquierdo I Gomez C Moctezuma M Mannis M A Henriquez Source Type: research

Marfan syndrome in a Ghanaian male: The diagnostic challenges
In this report, we explore the challenges of early diagnosis in this population. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 20, 2024 Category: General Medicine Authors: Aba A. Folson, Kwabena Oteng Agyapong, Dzifa Dey, Philip Eghan, Billey Quaye Tags: CASE REPORT Source Type: research

Longitudinal changes of refractive error in preschool children with congenital ectopia lentis
ConclusionsMyopic progression was slower in the surgery group than in the non-surgery group of CEL. Preschool CEL patients who met the surgical indication are suggested being performed with timely surgery to slow down the myopic progression. (Source: International Ophthalmology)
Source: International Ophthalmology - February 16, 2024 Category: Opthalmology Source Type: research

Research Progress on Aortic Root Aneurysms
Med Sci Monit. 2024 Feb 9;30:e943216. doi: 10.12659/MSM.943216.ABSTRACTAortic root aneurysms are one of the most common aortic root diseases, involving the aortic valve, aortic sinus, bilateral coronary arteries, and part of the ascending aorta. It is a life-threatening aortic disease with a high mortality rate of approximately 90%, due to aortic aneurysm rupture. Aortic valve insufficiency is one of the most common complications of aortic root aneurysms that can lead to acute left heart failure. The etiology of aortic root aneurysms is not yet completely clear and is mainly related to genetic diseases, such as Marfan synd...
Source: Medical Science Monitor - February 9, 2024 Category: Research Authors: Tonghua Du Weitie Wang Yong Wang Hulin Piao Kexiang Liu Source Type: research

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification
Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecul... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - February 5, 2024 Category: Genetics & Stem Cells Authors: Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen and Yan ’an Wu Tags: Research Source Type: research

Importance of reporting mortality and morbidity following thoracoabdominal aortic aneurysm repair according to the Crawford classification
In the December 2023 issue of the Journal, Lau and colleagues1 report their experience with open thoracoabdominal aortic aneurysm repair, comparing outcomes among 684 patients with and without Marfan syndrome. The primary outcome was the composite of major adverse events (MAEs) in the aggregate and for the 2 subgroups. Unfortunately, spinal cord ischemic injury (SCI), a major source of morbidity and mortality following thoracoabdominal aortic aneurysm (TAAA) repair, was not included as an adverse event in their analysis. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - February 2, 2024 Category: Cardiovascular & Thoracic Surgery Authors: Nicholas T. Kouchoukos Tags: Letter to the Editor Source Type: research

Quantitative analysis of choriocapillaris flow deficits and choroidal thickness in children with Marfan syndrome
Conclusions Thinner ChT and a higher CC FD% were observed in children with MFS, and an increased CC FD% in circle 2.5 mm was significantly associated with worse BCVA and cardiac function. These findings may help identify future visual impairment and early cardiac events in MFS children. (Source: British Journal of Ophthalmology)
Source: British Journal of Ophthalmology - January 29, 2024 Category: Opthalmology Authors: Ng, K., Xu, P., Jin, G., Cheng, W., Luo, X., Ding, X., Zheng, D., Liu, Y. Tags: Paediatric ophthalmology Source Type: research