Truncus Arteriosus

Truncus arteriosus is an unusual form of congenital cyanotic heart disease with a ventricular septal defect (VSD), a single truncal valve, and a common ventricular outflow tract. Protheragen is one of the top research service companies focusing on one-stop services for drug discovery and development for rare cardiovascular diseases such as truncus arteriosus. Our goal is to drive the opportunity for discoveries to gain traction by delivering comprehensive solutions that meet the unmet needs of these complicated diseases.

Introduction to Truncus Arteriosus

Truncus arteriosus is a rare cyanotic congenital heart disease with the characteristic feature of a single large arterial trunk with a single semilunar valve overriding a ventricular septal defect. Pulmonary blood flow is determined by pulmonary vascular resistance because the pulmonary arteries originate directly from the truncus. Truncus arteriosus occurs in 7 per 100,000 live births each year. Though it represents <1% of all congenital heart defects, truncus arteriosus makes up about 4% of individuals with critical congenital heart disease.

Fig.1 Truncus arteriosus and interrupted aortic arch (IAA) repair. (Naimo, P. S., and Konstantinov, I. E., 2021)

Pathogenesis of Truncus Arteriosus

Truncus arteriosus occurs when the embryologic development is incomplete or interrupted and there is failure to develop a septal wall dividing the single truncal root into the aortic and pulmonic outflow tracts. This prevents the development of distinct aortic and pulmonary valves and instead leads to a single truncal valve. Genetic studies in humans have shown that truncus arteriosus occurs commonly with 22q11.2 deletion syndrome. Other congenital malformation syndrome and variants involved genes encoding TBX, GATA, and NKX transcription factors and some signaling proteins have also been shown to be its cause.

Therapeutics Development for Truncus Arteriosus

Surgical repair is the therapeutic of choice for truncus arteriosus and is usually done in the first few weeks of life. Although surgery is definitive, medical therapy is critical before and after the surgery.

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

Protheragen's full-service offering spans the entire chain of drug development with services from preclinical development to close to the market. We offer state-of-the-art diagnostic and therapeutic research, and disease model development resources, vital for understanding the pathology of disease and its therapeutic. With cutting-edge facilities, we can perform extensive pharmacokinetic studies and drug safety analyses so that your drug candidates are of the maximum efficacy and safe performance levels.

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 Truncus Arteriosus

Investigation of truncus arteriosus in the animal model is important for elucidating the developmental history involved in this malformation and for a therapeutic approach. Our customized animal model development services can help speed your research on truncus arteriosus and other rare cardiovascular diseases.

Genetically Engineered Models

Genetically modified models, including knockout and transgenic animals, are tailored to your specific gene targets and research objectives.

• Hnrnpa1 mutant mouse model
• Fgf8/Isl1Cre mutant mouse model
• Tbx1 Knockout model
• Other models

Induced Animal Models

Performs environmental interventions (e.g., teratogen exposures) to develop models that mimic human cardiac defects.

• Nimustine hydrochloride (ACNU)-induced model
• Retinoic acid-induced model
• Other models

Working with Protheragen with a dedicated team of exceptional people and customized solutions. We combine cutting-edge technologies with deep scientific expertise to streamline your drug development process, reducing time. If our services interest you, please do get in touch.

References

• Naimo, Phillip S, and Igor E Konstantinov. "Surgery for Truncus Arteriosus: Contemporary Practice." The Annals of thoracic surgery 111.5 (2021): 1442-1450.
• Poaty, Henriette et al. "Truncus arteriosus communis: report of three cases and review of literature." African health sciences 18.1 (2018): 147-156.