For up to date information regarding COVID-19 and Genetic Aortic Conditions, visit https://www.marfan.org/about-us/news

LDS Vocabulary

Learn the jargon! Download our Vocabulary Sheet today, developed by the Loeys-Dietz Syndrome Foundation.

Jump to:

Medical Specialists

Allergist/Immunologist: doctor who specializes in allergies and/or the immune system

Audiologist: healthcare professional who performs a variety of hearing exams

Cardiologist: doctor who specializes in the structure and function of the heart

Cardiothoracic Surgeon: surgeon who performs operations to repair the heart and the aorta

Dietitian: (also dietician) expert in food and nutrition who helps promote healthy eating habits, supervises food preparation and develops specific diets to meet one’s special medical needs

ENT: Ear Nose and Throat Specialist (see otolaryngology)

Gastroenterologist: doctor who specializes in the digestive tract

Geneticist: doctor who diagnoses genetic conditions

Genetic Counselor: genetics expert who supports families through education, advocacy, resources and health management

Neurosurgeon: doctor who specializes in surgery of the brain and spinal cord

Nutritionist: professional who has knowledge about nutrition and diets

Occupational Therapist (O.T.): professional who works with individuals with disabilities to maximize daily living skills

Ophthalmologist: doctor who specialized in diseases of the eye and ocular nerve

Optometrist: health care professional that provides ocular exams and manages certain eye diseases

Orthotist: individual who creates orthotics, or devices such as foot and back braces to support orthopedic problems

Otolaryngologist: surgeon who specializes in the ears, nose and throat regions (commonly an ENT)

Orthopedic Surgeon: surgeon who treats bone-related conditions and uses x-rays, orthotics and/or surgical intervention to follow or correct bone abnormalities

Physician Assistant (P.A.): advanced licensed practitioner, who practices medicine under the supervision of a licensed physician

Physical Therapist (P.T.): professional who works with individuals with disabilities to maximize movement and functional abilities

Speech Therapist/Speech-Language Pathologist: professional who works with individuals who have a variety of speech, language, or swallowing problems

Vascular Surgeon: surgeon who operates on arteries outside of the aorta (not commonly arteries of the brain)

Cardiovascular (Heart & Circulatory System)

Aneurysm: widening or dilation of the aorta or other artery

Angiotensin: substance produced by the kidney to constrict the arterioles and drive up blood pressure

Aorta: largest artery of the body that sends blood from the heart to the rest of the body

Aortic Root: base portion of the aorta as it leaves the heart

Aortic Valve: heart valve between the left ventricle and the aorta; comprised of three flaps called cusps

Arrhythmia (or Dysrhythmia): abnormal rhythm of the heart

Arterial Tortuousity: twisting or spiraled arteries (In LDS, this most often occurs in the vessels of the neck)

Arterial Tree: all the arteries in the body

Arterioles: small, muscular branches of arteries

Artery: type of blood vessel that carries blood from the heart to the all the parts of the body

Atria (singular--atrium): heart’s two upper chambers, right and left

Bacterial Endocarditis: infection of the heart lining or valves

Bicuspid Aortic Valve (BAV): aortic valve that only has two flaps instead of the normal three

Bradycardia: slow heart rate (less than 60 beats per minute)

Carotid Artery: major artery in the neck that carries blood from the heart to the brain

Cerebral Hemorrhage: bleeding into the tissue of the brain from a ruptured blood vessel

Cerebral Thrombosis: blood clot in the brain tissue that blocks the flow of blood

Cerebrovascular: circulatory system of the brain

Cerebrovascular Accident (CVA): stroke or other injury to the brain, which is the result of blocked blood flow

Congenital: condition existing at birth (birth defect)

Congestive Heart Failure: heart failure in which the heart is unable to circulate blood to the body

Coronary Arteries: two arteries, right and left, that rise off the aorta and curve down over the top of the heart; provide the heart muscle with oxygenated blood

Dissection: tear or rupture in the lining of the aorta or other artery that can affect blood flow to parts of the body 

Heart Murmur: abnormal sound in the heart caused by floppy heart valves or holes in the heart walls

Mitral Valve: heart valve between the left atrium and ventricle

Myocardium: muscular wall of the heart; contracts to pump blood out of the heart and then relaxes as the heart refills with returning blood

Pericardium: membrane that surrounds the heart

Pericarditis: inflammation of the pericardium

Prophylactic Antibiotics: antibotics taken before dental or other invasive procedures to avoid contamination of the bloodstream

Regurgitation: leaking of blood through a floppy heart valve

Septum: muscular wall that divides the right and let sides of the heart

Supraventricular Tachycardia (SVT): rapid rhythm of the heart that arises from the electrical system of the atria

Ventricle: lower chambers of the heart; right ventricle pumps blood to the lungs while left ventricle pumps blood to the rest of the body

Ventricular Tachycardia: rapid rhythm of the heart that arises from the electrical system of the ventricles

Vertebral Artery: major artery in the neck that carries blood from the heart to the brain

Heart Defects

Atrial Septal Defect (ASD): hole between the atria (upper chambers) of the heart that allows blood to pump back to the lungs instead of the rest of the body

Mitral Valve Prolapse (MVP): floppy valve between the left atrium and ventricle

Patent Ductus Arteriosus (PDA): continued opening between the aorta and pulmonary artery which causes oxygenated and un-oxygenated blood to mix; may be seen at birth, but should close in infancy

Patent Foramen Ovale (PFO): opening into the right atrium that allows veins to bring blood to the heart (skipping the lungs) when the baby is in the womb; it normally closes after birth, but can remain open

Ventricular Septal Defect (VSD): hole between the ventricles (lower chambers) of the heart that allows blood in the ventricles to mix and not get pumped efficiently to the rest of the body

Craniofacial (Head & Face)

Bifid Uvula/Broad Uvula: split or broadness in the tissue that hangs in the back of the throat

Blue Sclera: blue tinge to the whites of the eyes

Cleft Palate: opening or gap in the roof of the mouth; can be covered by a mucous membrane called submucous cleft

Craniosynostosis: early fusion of the skull bones

Hypertelorism: widely spaced eyes

Malar Hypoplasia: flat cheek bones

Micrognathia: small chin

Retrognathia: receding chin

Palpebral Fissures: slanting of the eye openings

Genetics

Chromosome: singular strand of DNA that contains thousands of genes; humans have 46 chromosomes

Deoxyribonucleic Acid (DNA): hereditary material that is packaged to make genes that tell our body how to grow and develop

Gene: specific sequence of DNA located on a chromosome that creates a protein to perform a specific function in the body

Genotype: genetic information of a person

Phenotype: outward, observable characteristics of a person

TGFBR1: transforming growth factor beta receptor 1

TGFBR2: transforming growth factor beta receptor 2

Autosomal Dominant: inheritance pattern where one gene of a gene pair has a mutation which causes the disorder

Autosomal Recessive: inheritance pattern where both genes of gene pair requires a mutation to cause the disorder

Mutation: change in a gene that negatively impacts its stucture or function

Medications

Blood Pressure Medications: medication that reduces blood pressure and stress on aorta and other arteries

Angiotensin II Receptor Blocker (ARB): medications that block the action of a chemical angiotensin II, which normally causes blood vessels to narrow; a chemical ARB block the AT1 receptor pathway; example: Losartan, Irbesartan

Beta-Blockers: medications that reduce nerve impulses to the heart and blood vessels; makes the heart beat slower and with less force, lowering blood pressure; example: Atenolol, Propanolol

Ace Inhibitors (Angiotensin Coverting Enzymes): medications that prevent the formation of a chemical called angiotensin II, which normally causes blood vessels to narrow; block the ATI and ATII receptor pathways; cause the vessels to relax and blood pressure to go down; example: Enalopril, Lisinopril

Calcium Channel Blockers: medications that keep calcium from entering the muscle cells of the heart and blood vessels; causes the blood vessels to relax and blood pressure to go down; example: Verapamil

Neurological

Arnold Chiari Malformation: downward displacement of a portion of the brain (cerebellum) into the spinal cord area

Dural Ectasia: bulging or widening to the sac that contains the spinal cord

Hydrocephalus: fluid collection in the brain

Skeletal

Arachnodactyly: long, thin fingers

Cervical Spine Instability: instability in the vertebrae directly below the skull

Clubfoot/Talipes Equinovarus: congenital deformity of the foot causing the heel to point downward and the forefoot to turn inward

Congenital Hip Dysplasia: abnormally developed hip that leaves the hip joint unstable with the possibility of hip dislocation

Contracture: tightening of muscle, tendons, ligaments or skin that prevents normal movement

Halo: piece of equipment that encircles the neck, and attaches to the cervical spine with metal pins to allow for stabilization of the spine after surgery

Kyphosis: outward curvature of the spine

Lordosis: inward curvature of the spine

Osteoporosis: poor mineralization of bones leading to decreased bone mass and fragile bones

Pectus Carinatum: protruding chest wall

Pectus Excavatum: chest wall that sinks in

Scoliosis: s-like curvature of the spine

Spinal Fusion: surgical procedure to stabilize vertebrae by fusing them together

Spine: back bones

Spondylolisthesis: spinal condition where one vertebrae slips forward or backward in relation to the next vertebrae; symptoms can include low back pain, pain and or muscle spasms in the thighs and lower leg, muscle weakness, and or tightness in the hamstring muscle of the leg; diagnosis is made from x-ray; can be congenital or develop over time

Sternum: chest or breast bone

Vertebrae: bones of the spine

Cervical Spine: bones in the neck area

Thoracic Spine: upper spine

Skin

Translucent Skin: when veins are easily visible under skin

Hernia: protrusion of an organ or body part through a hole in skin or connective tissue

Striae: stretch marks of the skin

Special Monitoring

Holter Monitor: machine continuously records heart rhythms

Cardiac Catheterization: insertion of tubes into a blood vessel and threaded to heart to monitor blood flow

Cardiac Computed Tomography (CT), Computerized Axial Tomographic (CAT) Scan: X-ray imaging with or without contrast dye to examine internal organs, bone, soft tissue and blood vessels

Echocardiogram: ultrasound of the heart

Electrocardiogram (ECG or EKG): recording of the electrical activity of the heart over time

Electroencephalogram (EEG): recording of the electrical activity of the brain over time

Heart-Lung Machine: bypass machine; piece of equipment that oxygenates and circulates blood for the person while the heart is opened for repair

Intubation: when a tube is inserted down the throat for breathing purposes

Magnetic Resonance Angiogram (MRA): imaging with contrast that uses a magnet and radio wave pulses to produce pictures of the arteries in the body

Magnetic Resonance Imaging (MRI): imaging without contrast that uses a magnet and radio wave pulses to produce pictures of the organs and soft tissue of the body 

File: 
PDF icon loeys-dietz-syndrome-glossary.pdf