A B C D E F G H I J K L M N O P Q R S T U V W X Y Z A |
Abdomen :
The portion of the body from just below the ribs to just above the hip bones.
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Allele :
One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics such as hair color or blood type. One form of the allele (the dominant one) may be expressed more than
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Amblyopia :
An imbalance of vision between the eyes.
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Amino Acid :
A building block of proteins. There are 20 different kinds of naturally occurring amino acids in the human body.
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Aneurysm :
An enlargement of an artery. In the case of the Marfan syndrome, an aneurysm often involves the tissue around the aortic valve.
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Antibiotic :
A class of substances that destroy or inhibit the growth of other microorganisms.
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Antibody :
A protein of the immune system, produced in response to an antigen (a foreign substance that often causes disease)
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Anticoagulant :
Drug used to thin the blood and prevent blood clots from forming.
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Aorta :
The large artery that carries blood from the heart to the rest of the body.
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Aortic dilation :
The expansion of the aorta which causes weakening of the blood vessel.
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Aortic dissection :
As the aorta widens, a tear can develop in the inner wall and rapidly extend into the weakened middle layer. Once the tear develops, the force of pumping blood can cause the middle layer to separate, forming an abnormal second channel through which blood
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Aortic insufficiency :
Abnormal function of the aortic valve in the heart that results in the abnormal back flow of blood in the aorta and into the left ventricle of the heart.
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| B | |
Beta-blockers :
A class of drugs widely prescribed to regulate blood pressure and heart rhythm.
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Candidate Gene :
A gene located in a chromosome region suspected of being involved in a disease.
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Cardiologist :
A medical doctor who specializes in the heart.
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Carrier :
An individual who has one copy of a mutant allele that causes disease only when two copies are present. Although carriers are not affected by the disease, two carriers can produce a child who has the disease.
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Cell :
The basic subunit of any living organism; the simplest unit that can exist as an independent living system.
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Chromosome :
A structure found in the cell nucleus that contains the genes; chromosomes are composed of DNA and proteins. Each parent contributes one chromosome to each pair, so every child gets half of his/her chromosomes from the mother and half from the father.
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Composite Graft :
a mechanical valve sewn into one end of a woven cloth tube (often made of Dacron, a synthetic) which is used to replace the damaged aorta and valve.
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Congenital :
Any trait or condition that exists from birth.
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Connective Tissue :
It is the glue and scaffolding of the body that includes the substances between cells (extracellular matrix) consisting of collagen and elastic fibers.
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Deoxyribonucleic Acid (DNA) :
The substance of heredity; a large molecule that carries the genetic information necessary for all cellular functions, including the building of proteins. DNA is composed of the sugar deoxyribose, phosphate, and the bases adenine, thymine, guanine and cyt
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Diagnosis :
Determination of the nature of a disease.
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Dissection :
see Aortic Dissection
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Dominant :
A gene that almost always results in a specific physical characteristic even though the patient's genetic make-up includes only one copy. With a dominant gene, the chance of passing on the gene, which may cause a condition or disease, to children is 50-50
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Dural ectasia :
The central nervous system — the brain and the spinal cord — are surrounded by fluid contained by a membrane called the dura, which is primarily connective tissue. The enlargement of this membrane is referred to as dural ectasia.
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| E | |
Echocardiogram :
A test that uses high frequency sound waves to examine and take pictures of the heart and surrounding tissues.
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Ectopia lentis :
A dislocated or off-center lens of the eye. This occurs in about 60-70 percent of people with the Marfan syndrome.
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Endocarditis :
Inflammation of the lining of the heart cavity and valves.
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Endocarditis prophylaxis :
The prevention of endocarditis by taking antibiotics prior to any procedures that may trigger it.
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Exotropia :
An outward turning of the eye.
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| G | |
Gene :
The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.
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Genetic code (ATGC) :
The language in which DNA's instructions are written. It consists of triplets of nucleotides, with each triplet corresponding to one amino acid in a protein's structure or to a signal to start or stop protein production.
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Geneticist :
A medical doctor with special knowledge about inherited diseases.
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Genome :
All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria.
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Genotype :
The genetic identity of an individual that does not show as outward characteristics.
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Heritable :
Capable of being transmitted from parent to child.
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Heterozygous :
Possessing two different forms of a particular gene, one inherited from each parent.
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Homograft :
Human or pig tissue used to replace a damaged aorta and valve.
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Homozygous :
Possessing two identical forms of a particular gene, one inherited from each parent.
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Hormone :
A "messenger" molecule of the body that helps coordinate the actions of various tissues; it is made in one part of the body and transported, via the bloodstream, to other parts, where it has a specific effect on cells.
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Hypertension :
High blood pressure.
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| I | |
Inherited :
Transmitted through genes from parents to offspring.
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| J | |
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| K | |
Knockout :
Inactivation of specific genes. Knockouts are often created in laboratory organisms such as yeast or mice so that scientists can study the knockout organism as a model for a particular disease.
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| L | |
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| M | |
Magnetic Resonance Imaging (MRI) :
A special imaging technique used to examine and take pictures of internal structures of the body.
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Malocclusion :
Poor positioning or inappropriate contact between the teeth when the mouth is closed.
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Microfibril :
Tiny microscopic rod-like structures composed of proteins including fibrillin-1 that form the framework of the elastic fibers in the extracellular matrix or connective tissue.
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Mitral regurgitation :
The back flow of blood from the left ventricle to the left atrium of the heart through a defective mitral valve. Also known as mitral incompetence.
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Mutation :
A permanent structural change in DNA. DNA changes can have either no effect, be beneficial, or cause disease.
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Myopic :
Near sighted.
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| N | |
Nucleotide :
One of the structural components, or building blocks, of DNA and RNA. A nucleotide consists of a base (one of four chemicals: adenine, thymine, guanine, and cytosine) plus a molecule of sugar and one of phosphoric acid.
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| O | |
Orthopedist :
a doctor who specializes in the skeletal system.
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Pectus carinatum :
Protrusion of the chest over the breastbone sometimes noted as a pigeon breast.
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Pectus excavatum :
Caved-in, sunken or indented chest sometimes noted as funnel chest.
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Pedigree :
A diagrammatic record of genes within families.
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Pes planus :
A condition where the arch of the foot has flattened out so that the entire sole of the foot rests on the ground. Also known as flat feet.
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Phenotype :
The observable traits or characteristics of an organism, for example, hair color, weight or the presence or absence of a disease.
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Pneumothorax :
Spontaneous collapse of the lung. This occurs in about 1 of 20 people with the Marfan syndrome.
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Polymorphism :
A common variation in the sequence of DNA among individuals.
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Prophylactic :
Preventive measure.
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Protein :
A molecule made up of a number of amino acids arranged in a specific order determined by the genetic code. Proteins are essential for all life processes.
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Protrusio acetabulae :
Severe deepening of the hip socket.
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| R | |
Recessive :
A genetic condition that appears only in individuals who have received two copies of a mutant gene, one from each parent.
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Retinal detachment :
Tear or separation of the lining of the back of the eye.
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Ribonucleic Acid (RNA) :
A single-stranded molecule that carries genetic information. RNA is composed of the sugar ribose, phosphate, and the bases adenine, uracil, guanine, and cytosine.
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Scoliosis :
Curvature of the spine.
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Sex Chromosome :
One of the two chromosomes that specify an organism's genetic sex. Humans have two kinds of sex chromosomes, one called X and the other Y.
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Single Nucleotide Polymorphism :
Common but minute variations that occur in human DNA at a frequency of one every 1,000 bases. These variations can be used to track inheritance in families. SNP is pronounced "snip".
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Skeleton :
Bone structure of the body used for support.
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Spontaneous Mutation :
A new permanent structural change in DNA that was not passed down from parent to child.
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Sternum :
Breastbone
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Strabismus :
Deviation or misalignment of the eyes. Many people with the Marfan syndrome have an outward deviation or turning of the eye (exotropia).
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Syndrome :
A group of physical characteristics that occur together.
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Thoracic :
Pertaining to or affecting the chest.
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| V | |
Valve-sparing :
Preservation of a person’s own aortic valve while changing the aortic vessel with a woven tube (usually made of Dacron, a synthetic).
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Variable expression :
A range of features of any hereditary condition and of the severity of the condition.
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| X | |
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| Y | |
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