Glossary of Terms
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- Glossary of Terms
Abdominal aortic aneurysm
An aortic aneurysm that happens in the part of the aorta that runs through the belly. Not usually caused by genetic variants.
Aorta
The largest artery in the body. It carries blood from the heart to the rest of the body.
Aortic aneurysm
A bulge or ballooning in the wall of the aorta that can be dangerous if it bursts.
Aortic arch
The curved part of the aorta that connects the ascending aorta to the descending aorta. Blood flows through it to supply the head, neck, and arms.
Aortic dilation
When the aorta becomes wider or stretches more than normal.
Aortic dissection
Also called an aortic rupture. A tear in the wall of the aorta (burst aneurysm) which can be life-threatening.
Aortic root
The beginning part of the aorta, where it comes out of the heart. It includes the aortic valve and the openings for the coronary arteries.
Aortic size index (ASI)
A measurement that adjusts aortic size based on body size to help assess risk.
Ascending aorta
The part of the aorta that goes upward from the heart and aortic root through the chest before it curves.
Autosomal dominant inheritance
A pattern of inheritance where one copy of a gene variant from a parent can cause disease.
Autosomal recessive inheritance
A pattern of inheritance where two copies of a gene variant (one from each parent) are needed to cause disease.
Benign or likely benign variant
A genetic variant that does not cause disease.
Bicuspid aortic valve
A valve in the heart with two leaflets (flaps) instead of the normal three.
Cascade testing
Testing offered to family members of someone with a known genetic condition.
Case report
A detailed story about one person’s medical history, treatment, and outcomes. Doctors use case reports to share unusual or important medical information with other healthcare professionals.
Case series
A study that looks at a group of people who have the same condition to describe what happened to them, how they were treated, and the outcomes.
Contrast (imaging)
A dye used during scans to make blood vessels and structures easier to see.
CT scan (Computed Tomography)
A special type of X-ray that takes detailed pictures of the body, including blood vessels and the aorta.
Data sharing
The practice of making research data available to advance scientific knowledge.
De novo genetic variant
A change in a gene that happens for the first time in a person and was not inherited from either parent.
De-identified data (anonymous)
Information that has had all personal details removed (like name, address, or health card number) so the data cannot be traced back to a person.
Descending aorta
The part of the aorta that goes downward through the chest, carrying blood to the lower part of the body.
DNA
The molecule in your cells that carries your genetic instructions, like a blueprint for your body.
Echocardiogram (Echo)
A test that uses sound waves to take moving pictures of the heart to see how it’s working. An ultrasound of the heart.
Evidence-based guidelines
Recommendations for care based on scientific research and clinical evidence. Typically written by a professional organization such as the American Heart Association.
Gene
A piece of DNA that tells your body how to make a specific protein or control a trait.
Gene panel testing
Testing that looks at a group of genes associated with a specific condition.
Genetic counselling
Trained professionals help individuals or families understand and adapt to the medical, psychological, and familial implications of genetic conditions, including interpreting test results, assessing risk, and supporting informed decision-making.
Genetic testing
Testing used to identify changes (or variations) in genes that may cause or increase the risk of disease.
Genetic variant
A difference in your DNA that makes you unique. Some variants can affect health.
Genetic variant of unknown clinical significance (VUS)
A difference in DNA that we don’t yet know if it causes disease or not.
Genotype
The unique genetic makeup a person has in their DNA, which can influence the risk for disease.
Genotype–phenotype correlation
The relationship between a genetic variant and the physical traits or disease it causes.
Ghent criteria
A standardized set of physical exam and diagnostic imaging findings used to diagnose Marfan syndrome, based on a combination of features, aortic measurements, eye findings, and genetic testing.
Heritable thoracic aortic disease (HTAD)
A group of genetic conditions that increase the risk of aneurysm and dissection in the chest (thoracic) aorta.
Incidental finding
A genetic variant or diagnostic imaging finding discovered unexpectedly during a test done for another reason.
Longitudinal study
A research study that follows the same group of people over a long period of time to see how their health changes.
Mitral valve prolapse
A condition where the mitral valve in the heart doesn’t close properly. This can cause blood to leak backward into the heart and sometimes lead to heart murmurs or other symptoms.
Modifier genes
Genes that influence how another gene affects the body or disease severity.
MRI (Magnetic Resonance Imaging)
A scan that uses magnets and radio waves to make very detailed pictures of the body and blood vessels without using X-rays.
Multifactorial inheritance
A pattern of inheritance where many genes and environmental factors together increase or decrease the risk of developing a disease.
Natural history study
The way a disease develops and changes over time. It shows what usually happens from the start to the end of the disease.
Non-syndromic aortic disease
Aortic disease that only affects the cardiovascular system. It occurs without other visible features of a genetic syndrome/connective tissue disorder.
Pathogenic or likely pathogenic variant
A genetic variant that can cause disease. Formerly called a mutation.
Penetrance
The likelihood that a person with a genetic variant will develop signs or symptoms of a condition.
Phenotype
The physical traits or characteristics a person shows, like tall height, eye color, or a heart condition.
Prospective research study
A study that follows people forward in time to see what happens.
Registry study
A study that collects information from many people with a specific condition to learn more about the disease over time.
Retrospective research study
A study that looks at past health problems to find patterns or outcomes.
Segregation analysis
Tracking a genetic variant in family members. Usually, to see if the variant is present in those that have disease and absent in those that do not have disease.
Surveillance
Regular monitoring of a condition using imaging or medical check-ups.
Syndromic aortic disease
Aortic disease that occurs as part of a broader genetic condition affecting other body systems such as the eyes and/or bones.
Thoracic aneurysm
A bulge or ballooning in the wall of the aorta that happens in the chest area (root, ascending, arch, descending aorta). ~20-30% are caused by genetic variants.
Tricuspid aortic valve
A normal aortic valve with three leaflets (flaps) that open and close to control blood flow.
Type A aortic dissection
A tear in the part of the aorta that starts near the heart (the aortic root or ascending aorta). This is a medical emergency, requiring surgery.
Type B aortic dissection
A tear in the part of the aorta that starts farther from the heart (the descending aorta). Surgery may or may not be needed depending on symptoms.
Variable expressivity
Differences in how a genetic condition appears among individuals, even within the same family.
Whole exome sequencing (WES)
Testing that examines the parts of genes that code for proteins, called exons. Exons make up 1-2% of our genetic material. Most disease-causing variants occur in exons.
Whole genome sequencing (WGS)
Testing that analyzes the entire genetic code.
Z-score (aortic measurement)
A measurement that compares a person’s aortic size to what is normal for their age and body size.