Of Marfan's Syndrome, Mice, and Medications

Bowen, Juan M.; Connolly, Heidi M.

doi:10.1056/nejme1412950

Cited by 19 publications

(10 citation statements)

References 8 publications

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“…In contrast, patients with malformations of vessels in or to the viscera generally come to medical attention only when severe complications occur, due to the insidious onset and deep location of the disease. This can lead to a delay in diagnosis and treatment or, in some cases, missed or incorrect diagnoses . Therefore, vascular malformations may not be as rare as they are thought to be, and understanding their genetics and pathogenesis will contribute to the diagnosis and treatment of the diseases.…”

mentioning

confidence: 99%

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DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Pang

Zhou

et al. 2019

Hepatology

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mentioning

confidence: 99%

“…This can lead to a delay in diagnosis and treatment or, in some cases, missed or incorrect diagnoses. (3)(4)(5)(6) Therefore, vascular malformations may not be as rare as they are thought to be, and understanding their genetics and pathogenesis will contribute to the diagnosis and treatment of the diseases.…”

mentioning

confidence: 99%

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Pang

Zhou

et al. 2019

Hepatology

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“…Beta-blockers are widely used to treat patients with MFS and have demonstrated a positive effect on preventing aortic root growth [69,70]. Treatment with the angiotensin receptor blocker, Losartan, in monotherapy shows similar results to those of beta-blockers and can be considered as an alternative in patients with MFS [71][72][73]. Results of larger trials with Losartan as co-adjuvant therapy are shortly being awaited [74,75].…”

Section: Mfs and Other H-tadmentioning

confidence: 90%

Managing aortic aneurysms and dissections during pregnancy

Mosquera

Backer

2015

Expert Review of Cardiovascular Therapy

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Cardiovascular diseases during pregnancy account for significant morbidity and mortality, with aortic aneurysms, complicated by aortic dissection or rupture, being high on the list of underlying causes in this category. Correct knowledge of the diagnosis, risks and treatment is mandatory to improve the outcome and save lives. In this article, the authors aim to provide an overview of the underlying causes and risk factors for aortic aneurysms and dissections during pregnancy, while presenting the ways of preventing and treating these conditions. Although an important focus lies on the proximal part of the aorta due to it bearing the greatest risk for complications and being more frequently implicated in aortic disease in younger subjects, many aspects on the etiology and underlying diseases also apply to the other parts of the vessel.

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“…Furthermore, epigenetic environmental factors may also play an important role in the final phenotypic expression of the disease. A better understanding of all these mechanisms will help to alter the natural history and even prevent the phenotypic expression of FMV/MVP with pharmacologic agents, as has been the case in certain patients with the Marfan syndrome [48,49,50,51,52]. …”

Section: Resultsmentioning

confidence: 99%

Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome

et al. 2017

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Background: It has been suggested that collagen abnormalities of the mitral valve are present in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). Genetic factors determining collagen synthesis and degradation have not been well defined in these patients. This study was undertaken to determine whether selective polymorphisms of matrix metalloproteinase-2 (MMP2) or transforming growth factor-β (TGFβ), with known or putative effects on collagen turnover, are more frequent in FMV/MVP. Methods: Single nucleotide polymorphisms (SNPs) in select genes related to collagen turnover, including MMP2 rs2285053, MMP2 rs243865, TGFβ1 rs1800469, and TGFβ2 rs900, were determined in 98 patients with FMV/MVP who had severe mitral regurgitation and compared to 99 controls. Results:MMP2 rs243865 was the only SNP significantly associated with FMV/MVP as compared to the control (odds ratio 2.07, 95% CI 1.23-3.50, p = 0.006). MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). Conclusion: The frequency of certain MMP2 polymorphisms is higher in patients with the FMV/MVP syndrome and patients with FMV/MVP without the syndrome. The data suggest that a genetic predisposition that alters collagen turnover may play a role in the pathogenesis and development of FMV/MVP.

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Of Marfan's Syndrome, Mice, and Medications

Cited by 19 publications

References 8 publications

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Managing aortic aneurysms and dissections during pregnancy

Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome

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