Ventrilia Cardiovascular Test

Ventrilia is applicable for:

• Symptomatic patients with an unidentified cardiovascular genetic disorder
• Pre-symptomatic patients with family history of inherited cardiovascular disease or sudden cardiac death
• Patients experiencing fainting or unexplained seizures
• Patients suspected of having a cardiovascular-associated genetic condition due to clinical symptoms (shortness of breath, excessive sweating, heart pain, weakness)
• Patients with clinical diagnosis of channelopathies (irregular heart rhythm)
• Asymptomatic patients in high-risk groups (e.g., high cholesterol) with non-specific phenotype

Genetic testing may:

• Identify a genetic cause of inherited cardiovascular disorders
• Support diagnosis when interpreted alongside clinical features
• Clarify familial risk for relatives who may also be affected
• Guide condition-appropriate monitoring in accordance with clinical practice guidelines
• Facilitate faster identification of complex cardiovascular conditions
• Accurately detect multiple cardiovascular-related genetic mutations
• Enable early identification of disease in asymptomatic individuals
• Improve prognostic assessment and assist in clinical management decisions
• Prevent potential complications, such as sudden cardiac arrest, through prophylactic measures

Clinically significant variant detected
A pathogenic or likely pathogenic variant has been identified in a gene associated with a cardiovascular disease.

No clinically significant variant detected
No disease-causing genetic variant has been identified.

Variant of uncertain significance (VUS)
A genetic change has been detected, but it is currently unknown whether that change is associated with a genetic disorder.

Carrier status will not be reported for recessive conditions.

Variant re-evaluation can be requested by healthcare providers at defined timeframes.

Ventrilia can detect cardiovascular disease-causing mutations in symptomatic, pre-symptomatic and asymptomatic individuals. This will help to:

• Provide the most optimal clinical management plan to reduce the patient’s risk of sudden cardiovascular events
• Recommend appropriate examinations at key time intervals for high-risk, asymptomatic patients identified with a cardiovascular genetic mutation
• Recommend testing and genetic counselling to family members, if applicable

Genetic counselling is a specialied, patient-centered, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

• World Health Organization (Cardiovascular Diseases fact sheets and World Heart Federation (2017)
• Elliott, A. M., & Friedman, J. M. (2018). The importance of genetic counselling in genome-wide sequencing. Nature reviews. Genetics, 19(12), 735–736.
• Yang, M., & Kim, J. W. (2018). Principles of Genetic Counseling in the Era of Next-Generation Sequencing. Annals of laboratory medicine, 38(4), 291–295.