Imaging-Based 4D Aortic Pressure Mapping in Marfan Syndrome Patients: A Matched Case-Control Study (Commentary)
Publication date: Available online 13 December 2019Source: The Annals of Thoracic SurgeryAuthor(s): Marc R. Moon
Publication date: February 2020Source: The Annals of Thoracic Surgery, Volume 109, Issue 2Author(s): Sherene Shalhub, Mary J. Roman, Kim A. Eagle, Scott A. LeMaire, Qianzi Zhang, Artur Evangelista, Dianna M. Milewicz, Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) ConsortiumBackgroundTo investigate clinical course of patients with type B aortic dissection (TBAD) occurring at a young age with confirmed or suspected heritable thoracic aortic disease.MethodsIndividuals with TBAD occurring at an age
ConclusionAlthough compound heterozygosity or homozygosity is rare in MFS, it should be considered when there is an unusually severe phenotype in a subset of family members.
CONCLUSIONS: All together, our results suggest sterile inflammation as a novel paradigm to disease progression, and we identify, for the first time, monocytes as a viable candidate for targeted therapy in MVD. PMID: 31928435 [PubMed - in process]
Jeremy Norton, from Wigston, Leicestershire, has Marfan syndrome, where the connective tissue throughout the body is too fragile. As a result, the walls of the aorta can become weakened.
Marfan Syndrome (MFS) is a heritable connective tissue disorder with a high degree of clinical variability including respiratory diseases; a rare case of MFS with massive intrathoracic bleeding has been report...
CONCLUSION: The development of the third episode of pneumothorax led to the diagnosis of Marfan's syndrome thanks to the patient's combination of symptoms. To avoid diagnostic delay, criteria were established in 1996 and revised in 2010 to ensure an early diagnosis of this condition. PMID: 31883816 [PubMed - as supplied by publisher]
In conclusion, in human MFS aortic SMCs: (a) ERK activation is enhanced but not specific to the site of aneurysm formation; (b) ERK opposes TGF-β-dependent negative effects on SMC phenotype; (c) multiple distinct SMC subtypes contribute to a 'mixed' contractile-synthetic phenotype in MFS aortic aneurysm; and (d) ERK drives Notch3 overexpression, a potential pathway for tissue remodelling in response to aneurysm formation. PMID: 31886938 [PubMed - as supplied by publisher]
AbstractPregnant patients with Marfan syndrome (MFS) are at high risk of developing aortic dissection or rupture during the third trimester and early postpartum period. This increased likelihood is the consequence of the hyperdynamic and hypervolemic cardiocirculatory state and/or pregnancy ‐mediated structural changes of the arterial wall in response to hemodynamic and hormonal changes. In this article, we report on the case of a 26‐year‐old pregnant woman with MFS in the 30th gestation week, who presented with type A aortic dissection at the emergency department. According to t he multidisciplinary team decision, a...
Publication date: Available online 18 December 2019Source: Stem Cell ResearchAuthor(s): Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou ZhouAbstractThe human induced pluripotent stem cell line NCCDFWi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 26-year-old female Marfan syndrome patient carrying two compound heterozygous variants FBN1c.2613A>C, (p.Leu871Phe) and c.684_736+4del. The established patient-derived iPSC showed expression of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and posse...
CONCLUSIONS The high-density pedicle screw construct contributed to the significantly improved correction rate of thoracic curves in MF-S patients with large thoracic curves (≥70°). Additionally, increasing of pedicle screw number could help to enhance the structural stability and reduce the correction loss during the follow-up period. PMID: 31846451 [PubMed - in process]