Endocardial Fibroelastosis
Endocardial fibroelastosis is an uncommon condition of the heart, featuring disproportionate thickening of the endocardium due to fibroblastic tissue, which often appears in young children. Protheragen is a focused research service provider interested in rare cardiovascular illnesses such as endocardial fibroelastosis. With our expertise and technology, our customers will enjoy the highest levels of quality and services which will help accelerate research in endocardial fibroelastosis.
Overview of Endocardial Fibroelastosis
Endocardial fibroelastosis is a pathological condition most commonly seen in infants and young children. It is characterized by an abnormal deposition of collagen and elastin within the heart's endocardium. Endocardial fibroelastosis tends to occur both as a primary condition or secondary to other conditions and often results in poor prognoses and outcomes. While endocardial fibroelastosis can occur in isolation, it is estimated that 25% to 50% of the cases are associated with other conditions such as hypoplastic left heart syndrome, viral endocarditis, aortic stenosis, and atresia.
Fig.1 Examination results of individuals. (Xie, Y. Y., et al., 2023)Pathogenesis of Endocardial Fibroelastosis
Despite the hints of primary endocardial fibroelastosis being idiopathic, some reports suggest that there could be some form of genetic predisposition, particularly of the X-linked recessive type.
The TAZ gene (also known as EFE2) encodes a protein called Tafazzin, located at Xq28 on the chromosome. Mutations of this gene have been associated with fibroelastosis. Some also consider some mutations of NEX which encodes nexilin, a new Z-disk protein associated with the development of endocardial fibroelastosis. Other researchers have also proposed infectious and viral causes and potential autoimmune influences.
Fig.2 Disease model of endocardial fibroelastosis. (Oh, N. A., et al., 2021)
Therapeutics Development for Endocardial Fibroelastosis
| Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|
| losartan | Prevent endothelial-to-mesenchymal transitions and reduce the progression of endocardial fibroelastosis. | AT1R | Approved |
| Carvedilol | Lower plasma levels of BNP, prevent ventricle remodeling and greatly restore cardiac function in pediatric individuals. | ADRA1 | Approved |
| Recombinant BMP7 | Endothelial-to-mesenchymal transition and experimental fibroelastosis of the endocardium in rats are markedly improved. | / | Preclinical |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a therapy plan recommendation. For guidance on therapy options, please visit a regular hospital.
Our Services
An integrated suite of services spans every phase of the drug development process, and we provide advanced diagnostic development, conducting innovative therapeutic research, and developing disease models within one comprehensive suite of services. Our approach offers clients a streamlined process spanning from target identification to drug discovery and development, laying the groundwork for crafting effective therapeutics.
Therapeutic Development Services
Animal Model Development for Endocardial Fibroelastosis
Animal models are crucial in translating basic research into practice as they shorten development times and improve the chances of success during trials. We provide cutting-edge animal model development services to precisely replicate the phenotypes of endocardial fibroelastosis so that the mechanisms of the disease can be understood and new strategies for therapy can be tested.
The specific transplant model for endocardial fibroelastosis includes the placement of a donor's heart, for instance, an immature heart, onto a recipient animal such that the changes observed align with endocardial fibroelastosis.
Optional models:
- Heterotopic heart transplant model
- Other models
Moreover, our preclinical capabilities include conducting studies on a drug's pharmacokinetics as well as assessing its safety. With our unique and customized services, Protheragen partners with you to simplify the rare cardiovascular disease research intricacies and develop transformative therapies. Should you wish to learn more about our services, please reach out to us.
References
- Xie, Yao-Ying et al. "Pediatric acute heart failure caused by endocardial fibroelastosis mimicking dilated cardiomyopathy: A case report." World journal of clinical cases 11.8 (2023): 1771-1781.
- Oh, Nicholas A et al. "Abnormal Flow Conditions Promote Endocardial Fibroelastosis Via Endothelial-to-Mesenchymal Transition, Which Is Responsive to Losartan Treatment." JACC. Basic to translational science 6.12 (2021): 984-999.
For research use only, not for clinical use.