A Floating Object in the Left Atrium
INTRAOPERATIVE, real-time, three-dimensional transesophageal echocardiography (RT 3D TEE) has become common in addition to conventional two-dimensional (2D) TEE. However, an efficient application of RT 3D TEE to cardiac surgery is still evolving.1 The images were obtained from a 36-yr-old woman with Marfan syndrome during aortic root replacement and mitral valve plasty immediately after aortic unclamping. 2D TEE detected a floating object with acoustic shadow above the mitral valve in the left atrium (arrow, midesophageal mitral commissural view;left).
Publication date: Available online 9 September 2019Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Raymond G. Areaux, Alana L. Grajewski
This article is protected by copyright. All rights reserved. PMID: 31506931 [PubMed - as supplied by publisher]
We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition.
We sought to develop strategies for management of the aortic arch in patients with Loeys-Dietz syndrome (LDS) through a review of our clinical experience with these patients and a comparison with our experience in Marfan syndrome patients (MFS).
Publication date: Available online 5 September 2019Source: The Annals of Thoracic SurgeryAuthor(s): Yu Chen, Wei-Guo Ma, Jian-Rong Li, Jun Zheng, Qing Li, Yong-Min Liu, Jun-Ming Zhu, Li-Zhong SunABSTRACTBackgroundTo evaluate the long-term impact of frozen elephant trunk (FET) on the distal aorta of patients with Marfan syndrome (MFS) sustaining type I dissection confined to the thoracic aorta (above diaphragmatic hiatus).MethodsBetween 2003 and 2016, 42 MFS (Ghent/revised Ghent criteria) patients (age 33.3±8.9 years; 27 men, 64.3%) with type I dissection above diaphragmatic hiatus involving the arch (22 acute, 52.4%...
This study evaluates the prevalence of and compares FGIDs and pelvic floor symptoms in a national cohort of EDS and MFS patients. Methods: A questionnaire was sent to members of local and national MFS and EDS societies. The questionnaire evaluated the presence of GI and pelvic floor symptoms and diagnoses. The presence of FGIDs was confirmed using Rome III criteria. Quality of life was evaluated and scored with the CDC quality of life. Key Results: Overall, 3934 patients completed the questionnaire, from which 1804 reported that they had some form of EDS and 600 had MFS. In total, 93% of patients with EDS complained ...
Abstract BACKGROUND: To evaluate the long-term impact of frozen elephant trunk (FET) on the distal aorta of patients with Marfan syndrome (MFS) sustaining type I dissection confined to the thoracic aorta (above diaphragmatic hiatus). METHODS: Between 2003 and 2016, 42 MFS (Ghent/revised Ghent criteria) patients (age 33.3±8.9 years; 27 men, 64.3%) with type I dissection above diaphragmatic hiatus involving the arch (22 acute, 52.4%) underwent total arch replacement and FET. Dissection extended distally to mid-descending aorta in 32 (76%) and to above diaphragmatic hiatus in 10 (24%). Operative mortality...
Few studies have evaluated quality of life (QOL) in patients with Marfan syndrome (MFS). Most patients with MFS are dissatisfied with their self-image, report low self-esteem, and express difficulty coping with the ramifications of their condition.1 A recent surgical-series study, however, showed that patients with MFS who underwent thoracoabdominal aortic repair rated their physical and mental component scores higher than those of the general population.2 As options for prolonging life expectancy of patients with MFS increase,3 assessing the impact of these interventions on QOL becomes even more important.
CONCLUSIONS: In this study, three novel and a recurrent FBN1 mutations were detected. The results expand the mutation spectrum of FBN1, helping in the study of molecular pathogenesis of MFS and Marfan-related disorders. PMID: 31471346 [PubMed - in process]