Can Frozen Elephant Trunk Cure Type I Dissection Confined to Thoracic Aorta in Marfan Syndrome? (Commentary)
Publication date: Available online 28 September 2019Source: The Annals of Thoracic SurgeryAuthor(s): Jehangir J. Appoo
This study examines the impact of presentation and demographics on late survival in patients with MFS.
This article will provide an overview of the literature on potential biomarkers studied so far in MFS, as well as potential future directions.
Acute aortic dissection can represent one of the most complex diseases treated by vascular surgeons. Presented is a 39-year-old female with Marfan Syndrome and previous aortic interventions with acute type-A aortic dissection complicated by visceral and cerebral malperfusion. The case was further complicated by twin pregnancy, active anticoagulation for mechanical aortic valve, ectopia lentis syndrome of the right eye and TIA involving the left eye, and rupture of the remaining native ascending aorta requiring cardiopulmonary bypass and hypothermic circulatory arrest with a 26-week twin pregnancy.
This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results inz-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cut-off point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients i...
This report extends the phenotypic spectrum of variants identified in theSKI gene. We describe a new mutational hotspot associated with a marfanoid syndrome with no intellectual disability. Cardiovascular involvement was confirmed in a significant number of cases, highlighting the importance of accurately diagnosing SGS and ensuring appropriate medical treatment and follow-up.
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.