Introduction: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.
Objectives: The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.
Data Sources: PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.
Study Selection: Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.
Data Extraction: Data were extracted by HA, FTJ and LF using a predefined protocol.
Results: A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n ≥ 10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45 years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.
Conclusion: The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ijcard.2015.06.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exploring the therapeutic potential of PACAP in Hunner-type Interstitial Cystitis.
World J Urol
January 2025
Department of Urology, Peking University People's Hospital, Beijing, 100044, China.
Purpose: This study aims to elucidate the role of pituitary adenylate cyclase-activating polypeptide (PACAP) in Hunner-type Interstitial Cystitis (HIC) and evaluate its potential as a therapeutic target.
Methods: Bladder tissue samples were obtained from HIC patients and normal bladder tissue from bladder cancer patients. PACAP expression was assessed through immunohistochemistry.
The ratio of COL2A1:COL1A1 in dartos tissue patients with hypospadias.
BMC Urol
January 2025
Urology Department HOGIP UCAD, Cheikh Anta Diop University, Dakar, Senegal.
Background: The inelasticity of dartos tissue and the regulation of collagen expression are significant factors in the pathophysiology of chordee associated with hypospadias. While the COL2A1:COL1A1 ratio is recognised as a measure of cell differentiation, there is yet to be a study specifically examining this ratio in hypospadias. The aim of this study was to determine the COL2A1:COL1A1 ratio.
View Article and Find Full Text PDFThe effect of supplementation with type I and type III collagen peptide and type II hydrolyzed collagen on pain, quality of life and physical function in patients with meniscopathy: a randomized, double-blind, placebo-controlled study.
BMC Musculoskelet Disord
January 2025
Department of Orthopaedics and Traumatology, Faculty of Medicine, Dokuz Eylül University, İzmir, 35340, Turkey.
Background: Menisci, one of the most important anatomical structures of the knee joint, plays a role in load transfer, stability, shock absorption, prevention of articular cartilage degeneration, and proprioception. Type I collagen, the main component of the meniscus, and type II collagen fibers play an important role in the stability of the knee joint. This study aimed to evaluate the effects of Naturagen® 4 Joint product containing type I, II, and III collagen on pain, quality of life, and physical functions in patients with meniscopathy.
View Article and Find Full Text PDFCharacterization and film-forming properties of collagen from three species of sea cucumber from the South China Sea: Emphasizing the effect of transglutaminase.
Int J Biol Macromol
January 2025
College of Food Science and Technology, Guangdong Ocean University, Zhanjiang 524088, China; Shenzhen Institute of Guangdong Ocean University, Shenzhen 518108, China; National Research and Development Branch Center for Shellfish Processing (Zhanjiang), Zhanjiang 524088, China; Guangdong Provincial Key Laboratory of Aquatic Products Processing and Safety, Guangdong Provincial Engineering Technology Research Center of Seafood, Zhanjiang 524088, China. Electronic address:
This study aimed to investigate the structural characteristics of Stichopus horrens collagen (SHC), Holothuria scabra collagen (HSC), and Holothuria leucospilota collagen (HLC) and to assess the effect of transglutaminase (TGase) on their film-forming properties. The results indicated that the collagens from three species of sea cucumbers were type I collagen with a complete triple helical structure. The thermal denaturation temperature of HLC (34.
View Article and Find Full Text PDFRole of COL5A1 in lung squamous cell Carcinoma: Prognostic Implications and therapeutic potential.
Int Immunopharmacol
January 2025
Department of Molecular Pathology, The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, Henan, China; Henan Key Laboratory of Molecular Pathology, Zhengzhou, Henan, China. Electronic address:
Background: Lung squamous cell carcinoma (LUSC) is a significant health concern, characterized by a lack of specific therapies and limited treatment options for patients in advanced stages. This study aims to identify key molecules of prognostic importance in LUSC and provide an experimental foundation for their potential therapeutic applications.
Methods: Immune-related transcriptome expression analysis was performed on LUSC samples using the NanoString digital gene analysis system to develop a prognostic transcriptomic signature.
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!