Rare Congenital Heart Diseases

Rare congenital heart diseases encompass a varied array of conditions, including uncommon congenital heart and cardiovascular abnormalities. Our company is distinguished for its commitment to excellence and innovation in the realm of rare congenital heart disease therapeutic research, delivering preclinical research services aimed at developing drugs targeting these conditions.

Overview of Rare Congenital Heart Diseases

Congenital heart disease, a developmental anomaly, accounts for approximately 1% of all live births. The embryonic development of the heart and major vessels is a highly intricate sequence of events. Any disruption at any stage of this complex process can potentially lead to congenital heart disease. Some congenital cardiovascular diseases may manifest independently, while others may be associated with various genetic syndromes such as Down's syndrome, Marfan syndrome, and Turner syndrome, along with other concurrent disorders.

Rare congenital heart diseases are categorized into six groups:

• Abnormalities of the position and connection of the heart and vessels
• Shunts
• Complex congenital cardiovascular diseases
• Congenital cardiovascular diseases with concomitant organ dysfunction
• Grown-up congenital cardiovascular diseases
• Others

Fig.1 Manifestations and pathophysiological substrates of Ebstein's anomaly. (Pasqualin, G., et al., 2024)

Genetic Basis of Rare Congenital Heart Diseases

The causes of congenital heart disease are diverse and can result from a mix of genetic factors, environmental triggers, or a blend of both. Genetic mutations affecting crucial developmental pathways during embryonic development can lead to the formation of congenital heart defects. Uncommon missense mutations and premature termination mutations in genes like MYH6, MYH7 (which encode the α and β cardiac myosin heavy chains, respectively), and ACTC (cardiac actin) have been reported as rare factors underlying autosomal dominant atrial septal defects (ASDs) and Ebstein's anomaly.

Fig.2 Acquired cardiovascular risk factors in ACHD. (Brida, M., et al., 2023)

Therapeutics Development for Rare Congenital Heart Diseases

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

Equipped with a team of seasoned professionals and state-of-the-art technologies, we offer tailored preclinical research services designed to expedite the development of novel therapies for rare congenital heart diseases. Our comprehensive solutions include diagnostics, therapeutics, and disease model development services customized to address the specific needs of our clients.

Types of Rare Congenital Heart Diseases

Therapeutic and Animal Model Development Services

Therapeutic Development Services

• Small Molecule Drug Development
• Cell Therapy Development
• Gene Therapy Development
• Therapeutic Antibody Development
• Therapeutic Peptide Development
• Therapeutic Protein Development

Animal Model Development Services

• Chemical-induced Model
• Diet-induced Model
• Genetically Engineered Model
• Immunogenicity Model
• Surgical Model Development
• Transplant Model Development

Additionally, our company provides pharmacokinetic studies and drug safety evaluation services to bolster drug development endeavors. Our dedication to advancing scientific knowledge and our capacity to deliver top-tier services establish us as a reliable partner for clients aiming to make a meaningful impact in the therapeutic development of rare congenital heart diseases. If you are interested in our services, please feel free to contact us for more information.

References

• Brida, Margarita et al. "Acquired cardiovascular disease in adults with congenital heart disease." European heart journal 44.43 (2023): 4533-4548.
• 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.