For children diagnosed with complex heart conditions like hypertrophic cardiomyopathy (HCM), the diagnosis can be frightening for families and challenging for healthcare providers since the trajectory of the condition is often uncertain. As a leading cause of sudden...
Allele: A genetic variant that could be referring to an entire gene, a region of one gene or a single base pair.
Angioplasty: A non-surgical procedure with a balloon-tipped catheter to enlarge a narrowing in a coronary artery.
Anticoagulant: A drug used to reduce blood clotting.
Arrhythmia: Common condition whereby the heart beats too fast, too slow, or irregularly.
Atherosclerosis: The buildup of fatty materials (plaque) within the wall of your arteries, causing them to narrow.
Atrium: The two upper or holding chambers of the heart (referred as atria together).
Bioengineering: Biological or medical application of engineering principles or engineering equipment (ex. construction of artificial organs).
Biomarker: A distinctive biologically derived substance — that we can measure — that indicates the presence of a process, event, or disease.
Biomaterials: A natural or synthetic material (polymer or metal) suitable for introduction into living tissue, especially as part of a medical device (ex. artificial heart valve).
Cardiac amyloidosis: A disorder caused by abnormal protein (amyloid) in the heart tissue, which makes it hard for the heart to work properly (a.ka. “stiff heart syndrome”).
Cardiomyocyte: Muscle cells (myocytes) that make up the cardiac muscle.
Cardiomyopathy: A disease of the heart muscle that leads to the deterioration of the muscle and its pumping ability.
Cardiotoxicity: Having a toxic effect on the heart. The occurrence of heart electrophysiology dysfunction or muscle damage, caused by harmful chemicals.
Chromosome: Thread-like structures inside the nucleus of animal and plant cells, carrying the genetic information of a living organism.
Code (genetic): The “rules” that inform how DNA and RNA sequences translate into amino acid sequences that form proteins.
Comorbidity: The presence of co-existing or additional diseases linked back to an initial diagnosis.
Congenital: A heart disease that a baby is born with, caused by abnormalities of the heart or major blood vessels.
Congestive heart failure: A condition in which the heart cannot pump out all of the blood that enters it, leading to an accumulation of blood in the vessels and fluids in the body tissues.
Coronary artery disease: A narrowing of the arteries that supply blood to the heart, resulting from a buildup of plaque, putting one at risk of a heart attack.
Coronary thrombosis: The formation of a clot in one of the arteries that carries blood to the heart, triggering a heart attack.
DNA: “Deoxyribonucleic acid” carries the biological instructions, the genetic information, which makes a species unique. Most cells in a human body have the same DNA.
Echocardiography: A procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor. This produces a moving picture of the heart and heart valves.
Ejection fraction: Percentage of the blood pumped from the ventricles on each individual beat of the heart.
Electrocardiogram: A test that records the electrical activity of the heart, able to detect abnormal rhythms and heart muscle damage.
Embryonic stem cells: Grown from the cells of an early embryo, they are intended for therapeutic application. Most are donated to research by donors whose eggs have been fertilized in an in vitro clinic.
Endocarditis: A bacterial infection of the heart’s inner lining (endothelium).
Endothelial cells: The cells lining the inner walls of the blood vessels.
Epigenetics: The study of how genes produce their effect on an organism’s phenotype, by modifying the way a gene is expressed.
Ex-vivo: Outside an organism; in science, positioning a tissue or cell after removal from an organism.
Fibroblast: The body’s main connective tissue cell.
Gap junction: Connection point between adjacent cells, the channel through which they communicate, transfer substances, transmit electrical currents, etc.
Genetic counselling: Guidance provided by a medical professional typically to individuals with an increased risk of having offspring with a specific genetic disorder. This includes providing information and advice concerning the probability of producing offspring with the disorder, prenatal diagnostic tests, and available treatments.
Genome: The complete set of genes, between 30,000 to 40,000 in all in the human body.
Gene expression: Appearance of an inherited trait; for many genetic and environmental reasons, a gene may not be expressed at all.
Genomic imprinting: Genetic alteration of a gene or its expression that is inferred to take place after observing that certain genes are expressed differently depending on whether they are inherited from the mother or father.
Genotype: The entire genetic constitution of an individual, his or her unique genome revealed by personal genome sequencing.
Hypertrophy: Enlargement of tissues or organs because of increased workload.
Idiopathic: Arising spontaneously or from an obscure or unknown case.
Immunofluorescence: Using fluorescent dyes to label antibodies or antigens in order to study its presence in a tissue preparation.
In-vivo: In science, experiments that take place inside a living body.
Ischemia: Decreased flow of oxygenated blood to an organ due to a blocked artery.
Macrophage: A tissue cell of the immune system that functions in the destruction of foreign antigens (as bacteria and viruses).
Mitochondria: Cellular organelles found outside the nucleus that produce energy for the cell through cellular respiration.
Mitral valve: The structure that controls blood flow between the heart’s left atrium (upper chamber) and left ventricle (lower chamber).
Multipotent: Having the potential of becoming any of several mature cell types. Adult stem cells are generally multipotent.
Myocardium: The muscle wall of the heart.
Necrosis: The death of tissue within a certain area.
Nuclear medicine: A branch of medicine dealing with the use of radioactive materials in the diagnosis and treatment of disease.
Occluded artery: An artery in which the blood flow has been impaired by a blockage (plaque)
Perfusion: The act of pumping a fluid through an organ or tissue.
Pericardium: The outer fibrous sac that surrounds the heart.
Phenotype: The observable properties, characteristics and traits of an individual determined by genetic makeup and environment influences.
Pluripotent: Stem cells that are capable of differentiating into one of many cell types.
Proteomics: Large-scale analysis of proteins as expressed by genetic material.
Regenerative medicine: Research that blends tissue engineering, molecular biology and often the use of stem cells toward the goal of healing damaged organs and tissues.
Scaffold: A framework or structural element that holds cells or tissues together.
Scar tissue: Connective tissue forming a scar and composed chiefly of fibroblasts, replacing normal skin after injury.
Septum: The muscular wall dividing a chamber on the left side of the heart from the chamber on the right.
Sequencing (a genome): Decoding the order of genetic letters in a complete DNA sequence of an individual’s genome.
Smooth muscle cells: Found primarily in the heart, stomach, and digestive tract, these are non-striated cells controlled by autonomic nervous system and hormones.
Stem cells: A non-specialized, “blank” cell that can develop into any cell in the human body, like a skin, muscle, or nerve cell.
Stenosis: The narrowing or constriction of an opening, such as a blood vessel or a heart valve.
Stent: A device made of expandable, metal mesh that is placed (by using a balloon catheter) at the site of a narrowing artery. The stent is then expanded and left in place to keep the artery open.
Systemic circulation: The passage of arterial blood from the left atrium of the heart through the left ventricle, the systemic arteries, and the capillaries to the organs and tissues that receive much of its oxygen in exchange for carbon dioxide and the return of the carbon-dioxide carrying blood via the systemic veins to enter the right atrium of the heart and to participate in the pulmonary circulation.
Tetralogy of Fallot: A congenital abnormality of the heart characterized by pulmonary stenosis, an opening in the interventricular septum, malposition of the aorta over both ventricles, and hypertrophy of the right ventricle.
Thrombosis: A blood clot formed in a blood vessel or in the heart.
Tissue engineering: The manufacturing of functioning organs for implantation and use inside the body.
Translational research: Aims to translate results from basic science and apply them to medical practice to enhance human health and achieve better outcomes.
Transcription factor: Any of various proteins that bind to DNA and play a role in the regulation of gene expression by promoting transcription (first step of gene expression).
Tumor necrosis factor (TNF): A protein that is produced chiefly by monocytes and macrophages in response especially to endotoxins, that mediates inflammation, and that induces the destruction of some tumor cells and the activation of white blood cells.
Vasodilator: A medication that dilates or widens the opening in a blood vessel.
Ventricle: One of the two lower chambers of the heart.
Ventricular assist device: A mechanical pump that helps the ventricles pump blood, easing the workload of the heart in patients with heart failure.