Major cardiovascular lesions associated with Marfan syndrome include aortic diseases such as aortic root dilatation and mitral disease. If untreated, cardiovascular manifestations of the Marfan syndrome cause death in one half of patients during the first four decades of life. Although aortic diseases in the Marfan syndrome are responsible for most of serious morbidity and mortality, 60-80% of patients with Marfan syndrome have mitral valve dysfunction. The results of surgical treatment for aortic diseases in Marfan patients have recently shown significant improvement. However, there is no acceptable consensus about the timing and the technique of surgical intervention for mitral diseases. Especially mitral valve diseases is the most common cause of morbidity and mortality in infants with the Marfan syndrome. We report herein a case of Marfan syndrome (21-year-old female) who had undergone two operations for aortic root dilatation five years before she underwent the surgical treatment for progressive heart failure due to severe mitral annulus enlargement and mitral regurgitation.
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Value Health
January 2025
Department of Cardiology and State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: Our objective was to develop and assess the psychometric properties of relevant bolt-on items for the EQ-5D-5L in patients with rare diseases (RDs).
Methods: Nineteen new EQ-5D-5L bolt-ons were developed based on literature review, expert input and qualitative interviews and focus groups with patients, caregivers and representatives of patient associations. A nationwide, cross-sectional, web-based survey in China included patients or caregivers of patients with 31 RDs in China (n=9,190).
Hypertension
January 2025
Cardiology Division, Department of Medicine, Emory University School of Medicine, Atlanta, GA. (X.Z., Q.X., A.V., Z.L.).
Background: Recent studies show that hyperactivation of mTOR (mammalian target of rapamycin) signaling plays a causal role in the development of thoracic aortic aneurysm and dissection. Modulation of PP2A (protein phosphatase 2A) activity has been shown to be of significant therapeutic value. In light of the effects that PP2A can exert on the mTOR pathway, we hypothesized that PP2A activation by small-molecule activators of PP2A could mitigate AA progression in Marfan syndrome (MFS).
View Article and Find Full Text PDFGenes Dis
May 2025
Department of Clinical Laboratory, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian 361102, China.
World J Pediatr Congenit Heart Surg
January 2025
Division of Cardiothoracic Surgery, The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The authors present an exceptionally rare case of a newborn in whom total anomalous pulmonary venous return (TAPVR) had been diagnosed prenatally and in whom genetic testing after neonatal cardiac repair confirmed a missense variant of the gene consistent with Marfan syndrome as well as a gene mutation associated with severe combined immunodeficiency. To the authors' knowledge, this is the first reported case with this unique combination. Neonatal TAPVR repair was undertaken with a good postoperative outcome and survival until the last follow-up.
View Article and Find Full Text PDFJ Biol Chem
January 2025
Departments of Neurology, University of Michigan, Ann Arbor, MI 48109; Departments of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109; Neurology Service, VA Ann Arbor Healthcare System, Department of Veterans Affairs, Ann Arbor, MI 48105. Electronic address:
Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascular dementia. The vast majority of these mutations result in alterations in the number of cysteines in the gene product. However, non-cysteine altering pathogenic mutations have also been identified, making it challenging to discriminate pathogenic from benign NOTCH3 sequence variants.
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