Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.518
Abstract: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic… read more here.
Keywords: syndrome caused; dominant marfan; marfan syndrome; autosomal dominant ... See more keywords
Pathophysiology and Pathogenesis of Marfan Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-80614-9_8
Abstract: Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While clinically this disease manifests in many different ways, the most life-threatening manifestations are related… read more here.
Keywords: pathogenesis marfan; marfan syndrome; marfan; pathophysiology pathogenesis ... See more keywords
Imaging of the Postsurgical Aorta in Marfan Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Current Treatment Options in Cardiovascular Medicine"
DOI: 10.1007/s11936-018-0675-2
Abstract: Marfan syndrome is a heritable multisystem connective tissue disease and is the most common genetic cause of aortic disease. Guidelines for surgical repair and recommendations for surveillance imaging aim to prevent aneurysm rupture, aortic dissection,… read more here.
Keywords: marfan syndrome; aorta marfan; aortic dissection; repair ... See more keywords
Cyst Masquerading as Inadvertent Bleb After a Scleral-Fixated Intraocular Lens in Marfan Syndrome: A Case Report
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmology and Therapy"
DOI: 10.1007/s40123-018-0142-x
Abstract: IntroductionTo present a case of an epithelial inclusion cyst masquerading as an inadvertent bleb in a patient with Marfan syndrome.Case ReportA woman with Marfan syndrome presented with a subluxed crystalline lens in her right eye,… read more here.
Keywords: marfan syndrome; inclusion cyst; cyst; inadvertent bleb ... See more keywords
Extracranial Internal Carotid Artery Aneurysm in a Patient with Marfan Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2018.09.035
Abstract: Extracranial internal carotid artery (ICA) aneurysms are rare and most of them are considered of atherosclerotic etiology. Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin… read more here.
Keywords: extracranial internal; aneurysm; carotid artery; marfan syndrome ... See more keywords
An isolated aneurysm of the abdominal aorta in a patient with Marfan's syndrome - a case report.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2018.11.019
Abstract: We present a case of successfully treated abdominal aortic aneurysm in a 24-year old patient with Marfan's syndrome. Following initial physical and ultrasound examination, the multislice computed tomography scan revealed infrarenal aortic aneurysm of 6… read more here.
Keywords: aorta; marfan syndrome; case; patient ... See more keywords
Bilateral aneurysms of the axillary arteries and Marfan's syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2021.05.043
Abstract: Aneurysms of the arteries of the upper limbs represent a rare pathology. Apart from the risk of rupture and according to their localization, they can be responsible for nervous or venous compression, for embolism and… read more here.
Keywords: arteries marfan; axillary arteries; marfan syndrome; syndrome bilateral ... See more keywords
Management of unilateral temporomandibular joint ankylosis & orthomorphic correction in a patient with Marfan syndrome: A rare case report
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.09.033
Abstract: Highlights • Its a case report of a patient suffering from Unilateral TMJ Ankylosis, Marfan Syndrome & OSA.• Surgical intervention is often needed to correct the various deformities affecting the patients to restore the function,… read more here.
Keywords: marfan syndrome; ankylosis; case; patient ... See more keywords
Challenges and experiences in correcting scoliosis of a patient with Marfan Syndrome: A case report
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.09.166
Abstract: Highlights • To treat scoliosis in Marfan Syndrome is not always easy.• Preoperative preparation is important.• One-step surgical correction of scoliosis can be performed.• Good outcomes can be achieved by one-step surgical correction using posterior… read more here.
Keywords: marfan syndrome; experiences correcting; case; scoliosis ... See more keywords
Marfan Syndrome and Quality of Life in the GenTAC Registry.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2017.04.026
Abstract: BACKGROUND Previous small studies suggested reduced quality of life (QOL) for people with Marfan syndrome (MFS) compared with those without MFS. The national registry of GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) is… read more here.
Keywords: marfan syndrome; gentac registry; health; quality life ... See more keywords
Comparable surgical outcomes of abdominal aortic aneurysms in patients with and without Marfan syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of vascular surgery"
DOI: 10.1016/j.jvs.2021.03.040
Abstract: OBJECTIVE Marfan syndrome (MFS) affects the cardiovascular system. Aortic root aneurysm is a pathognomonic feature of MFS; however, the abdominal aorta is rarely affected. A consensus on surveillance for the abdominal aorta in patients with… read more here.
Keywords: without mfs; marfan syndrome; aortic aneurysms; patients mfs ... See more keywords