Osteogenesis imperfecta (OI) is the commonest form of heritable bone fragility. It is mainly characterized by fractures, hearing loss and dentinogenesis imperfecta. OI patients are at increased risk of cardiovascular disease of variable severity. Aortic aneurysm/dissection is one of the rarer but potentially serious cardiovascular complications of OI. So far, only six patients with aortic dissection and OI have been reported. As such, present OI diagnostic guidelines do not recommend systematic screening of patients for aortopathy. Here, we report on the clinical and molecular characteristics of three new OI patients and one additional patient with a first degree relative who presented with aortic dissection and/or aneurysm surgery. This observation further opens up the discussion on the need for and extent of cardiovascular screening in adult patients with OI.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.bone.2019.01.022 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cocaine and aortic dissection: the need for collaboration to overcome the underreporting bias.
Forensic Sci Med Pathol
January 2025
Department of Advanced Biomedical Sciences, School of Medicine, University of Naples Federico II, Via S. Pansini, 5, Naples, 80131, Italy.
The dissection of the aorta is a serious and potentially fatal consequence of cocaine use. Nonetheless, the underlying mechanisms and characteristics of this phenomenon remain to be deeply studied. The autopsy case of a 46-year-old white male found irresponsive and unconscious in his house and had a history of abusing cocaine is presented.
View Article and Find Full Text PDFMitochondrial NAD deficiency in vascular smooth muscle impairs collagen III turnover to trigger thoracic and abdominal aortic aneurysm.
Nat Cardiovasc Res
January 2025
Shanghai Fifth People's Hospital and Institutes of Biomedical Sciences Zhongshan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Thoracic and abdominal aortic aneurysm poses a substantial mortality risk in adults, yet many of its underlying factors remain unidentified. Here, we identify mitochondrial nicotinamide adenine dinucleotide (NAD)⁺ deficiency as a causal factor for the development of aortic aneurysm. Multiomics analysis of 150 surgical aortic specimens indicated impaired NAD salvage and mitochondrial transport in human thoracic aortic aneurysm, with expression of the NAD transporter SLC25A51 inversely correlating with disease severity and postoperative progression.
View Article and Find Full Text PDFAscending aortic replacement versus aortic root replacement in patients with type A aortic dissection involving the aortic root.
Ther Adv Cardiovasc Dis
January 2025
Department of Cardiac Surgery, LMU University Hospital, Ludwig Maximilian University, Munich, Germany.
Background: Extensive surgical resection of the thoracic aorta in patients with type A aortic dissection (TAAD) is thought to reduce the risk of late aortic wall degeneration and the need for repeat aortic operations.
Objectives: We evaluated the early and late outcomes after aortic root replacement and supracoronary ascending aortic replacement in patients with TAAD involving the aortic root.
Design: Retrospective, multicenter cohort study.
Type B Aortic Dissection Secondary to Non-typhoidal Salmonella Aortitis: A Case Report and Literature Review.
J Community Hosp Intern Med Perspect
November 2024
Department of Nursing, Karnali Academy of Health Science, Jumla, Nepal.
Infectious aortitis is an uncommon but potentially fatal condition that can lead to aortic dissection or rupture. We describe a case of a 69-year-old female who developed a Stanford type B aortic dissection, presumptively caused by Salmonella, which was successfully managed with thoracic endovascular aneurysm repair (TEVAR) and long-term antibiotics. A literature review of 17 reported cases from 2000 to 2024 of aortic dissection secondary to infectious aortitis was conducted.
View Article and Find Full Text PDFOptimized contrast enhancement and homogeneity in aortic CT angiography: bolus tracking with personalized post-trigger delay.
Quant Imaging Med Surg
January 2025
Department of Radiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: The bolus tracking technique has been used for decades, yet still faces the challenging task of determining the optimal scanning time for individuals. Our study aimed to assess the feasibility of a novel bolus tracking method with a personalized post-trigger delay (PTD) to optimize scanning time and achieve optimized enhancement and contrast homogeneity in aortic computed tomography angiography (CTA).
Methods: Participants undergoing aortic CTA with bolus tracking were prospectively assigned to two different groups: Group A with a fixed 6-second PTD and Group B with a personalized PTD.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!