Ebstein's Anomaly

Ebstein's anomaly is essentially an anatomic and pathophysiologic spectrum of malformation of the tricuspid valve and right ventricular myopathy producing a spectrum of anatomic and pathophysiologic findings resulting in variable situations. Protheragen is a specialized research service provider that provides one-stop solutions to drug discovery and drug development for rare cardiovascular diseases such as Ebstein's anomaly. Our process marries innovative therapeutics with cutting-edge diagnostics, in which every step from discovery to preclinical assessment stands with unparalleled diligence and integrity.

Introduction to Ebstein's Anomaly

Ebstein's anomaly is a tricuspid valve deformity combined with myopathy of the right ventricle and a rare congenital cardiac malformation that has a wide spectrum of anatomic and pathophysiologic features. The lesion is uncommon, occurring in about 1:20,000. This can manifest as atrioventricular tachycardia (AVRT), AVNRT, atrial arrhythmias, and rarely ventricular tachycardia.

Fig.1 The anatomy and physiological changes in Ebstein's anomaly. (Pasqualin, G., et al., 2024)

Pathogenesis of Ebstein's Anomaly

Ebstein's anomaly is a rare malformation (<1% of all congenital heart disease). The pathophysiology of Ebstein's anomaly is complex and is characterized by developmental derangements during cardiogenesis. It is the product of an incomplete delamination of the tricuspid valve from the RV endocardium between the 7th and 12th week of gestation. Genetic etiologies of this birth defect of the heart may be associated with mutations in MYH7 and NKX2.5, among others.

Fig.2 The principal signs of Ebstein's anomaly. (Pasqualin, G., et al., 2024)

Therapeutics Development for Ebstein's Anomaly

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen combines our deep scientific expertise with the most advanced technologies to offer a portfolio of scientifically and technologically advanced services ranging from the development of specific diagnostics to support the detection of challenging cardiovascular diseases, the innovation of therapeutics to guide the heterogeneity of pathologies to the design of complex disease models of pathologies that enhance the research and development in vivo.

Therapeutic Development Services

Diverse Platforms

• Small Molecule Drug Development
• Gene Therapy Development
• Therapeutic Peptide Development

• Cell Therapy Development
• Therapeutic Antibody Development
• Therapeutic Protein Development

Animal Model Development for Ebstein's Anomaly

In the context of investigation, animal models are crucial because they mimic certain aspects of the pathogenesis of the disease and support or test the safety and efficacy of the novel therapy before its application. Our company employs cutting-edge gene editing technologies to develop customized Ebstein's anomaly animal models designed to accommodate your preclinical research acceleration requirements.

Genetically Engineered Models

Genetic modification is performed to obtain animal models that can acquire genetic modification or structural malformation to construct an Ebstein's anomaly model.

• Lama3 knockout model

• Other models

In conjunction with R&D, Protheragen's complete preclinical services also include safety, pharmacokinetic, and pharmacodynamics, ensuring that safety and efficacy meet international standards. We are an interdisciplinary team working together to bridge the gap between cutting-edge science and meaningful therapies. Contact us if you have any questions about our services.

Reference

• Pasqualin, Giulia et al. "Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy." Heart (British Cardiac Society) 110.4 (2024): 235-244.