LDS Vocabulary for
Patients and Families

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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 perform daily tasks at work, school, home, and leisure activities

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

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

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

Psychiatrist: a medical practitioner specializing in the diagnosis and treatment of mental illness

Psychologist: an expert or specialist in psychology

Psychotherapist: a person who treats mental disorders by psychological means such as talk therapy, rather than medical means.

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

Hereditary Thoracic Aortic Disease (HTAD): Group of genetic disorders where aortic dissections and aneurysms occur in the chest (thorax) 

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

Percentile: In medicine, a percentile compares one person’s physical measurement to a range of measurements from other people of the same age, sex, body size, etc. The range of measurements is split into 100 groups, each group is called a percentile, and the groups range from the 1st to 99th percentile. The greater the percentile, the greater the measurement is compared to others. In children, aneurysm size can be reported as an absolute size (in cm or mm), but this method can be difficult to use because the “normal range” of sizes is always changing as children grow and age. To account for their growth, physicians may use percentiles.

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

Type A aortic dissection takes place in the ascending aorta, the section of aorta between the heart and aortic arch, but can also extend to the arch or descending aorta. 

Type B aortic dissection occurs only in the descending aorta, located between the aortic arch and abdomen. 

Vascular system: also called the circulatory system, consists of vessels that transport lymph and blood throughout the body

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

Z-Score: In medicine, a Z-score compares a person’s physical measurement to the average measurement for their age or body size. The greater the Z-score, the further it is from the average. In children, aneurysm size can be reported as an absolute size (in cm or mm), but this method can be difficult to use because the “normal range” of sizes is always changing as children grow and age. To account for their growth, physicians may use Z-scores.

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

Ectopia lentis: Dislocation of the lens of the eye

Hypertelorism: widely spaced eyes

Malar Hypoplasia: flat cheek bones

Micrognathia: small chin

Retrognathia: receding chin

Palpebral Fissures: slanting of the eye openings


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

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

DNA Banking: long-term storage of an individual’s genetic material for future testing

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

Human genome: the complete set of DNA in a person, and is slightly different in each individual

Mosaicism: a condition where instead of having all cells with the same genetics, a person has two or more genetically different sets of cells 

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

Penetrance: likelihood of a gene or trait to be expressed clinically (produce signs and symptoms)

Phenotype: outward, observable characteristics of a person

Proband: the first family member to be tested for a specific genetic condition

Recurrence risk: when an individual has a genetic condition, the risk that other family members will also have the same condition 

TGFBR1: transforming growth factor beta receptor 1

TGFBR2: transforming growth factor beta receptor 2


Angiotensin II Receptor Blocker (ARB): a class of medication that blocks a chemical receptor called the AT1 receptor from receiving a chemical known as angiotensin II. Angiotensin II normally causes blood vessels to narrow and by preventing its normal function, ARBs help to lower blood pressure. Examples include: Losartan, Irbesartan, and Candesartan.

Ace Inhibitors (Angiotensin Coverting Enzymes): a class of medication that prevents the formation of a chemical called angiotensin II, which normally causes blood vessels to narrow. By preventing its formattion, the medication blocks the ATI and ATII receptor pathways and causes the vessels to relax and blood pressure to go down. Examples include: Enalopril, Lisinopril

Beta-Blockers: a class of medication that reduces nerve impulses to the heart and blood vessels. This causes the heart to beat slower and with less force and lowers blood pressure. Examples include: Atenolol, Propanolol, and Metoprolol.

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

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

Optimal Titration: a personalized dose of a medication that aims to maximize its beneficial effects and minimize its side effects.


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


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

Hypermobility: When joints can move beyond the normal range of motion

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


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

Computerized Tomography Angiogram (CTA): X-ray imaging with 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

Connective Tissue

Collagen: a structural protein found in blood vessels, tendons, ligaments, skin, cornea, cartilage, and other connective tissues

Connective tissue: a type of tissue that helps the body’s other tissues to connect, support, and bind

Connective tissue disorder: a condition that impairs bodily connections between structures

Elastin: Stretchy protein with rubber band-like properties that is a key component of ligaments and skin

Marfan syndrome: Genetic condition caused by a mutation (gene change) in the fibrillin-1 (FBN1) gene that affects connective tissue

Meester-Loeys syndrome (MRLS): Genetic disorder caused by a variant in the BGN gene that affects connective tissue, also known as BGN-Associated Aortic Aneurysm syndrome 

Shprintzen-Goldberg Syndrome (SGS):  A genetic disorder caused by a mutation in the SKI gene that affects connective tissue

Vascular Ehlers-Danlos Syndrome (vEDS): Genetic disorder caused by a mutation in the COL3a1 gene that affects connective tissue


Chronic Pain: the pain that continues for months or years and is usually defined as pain that lasts for three or four months

Endorphins: Substances in your body that can improve your mood and decrease your pain

Inflammatory pain: pain related to inflammation and tissue damage. This pain may occur after surgery, injury, diet, or daily repetitive movements (like walking and chopping food) that can cause overuse injuries. 

Mechanical pain: pain from stress on joints and muscles. This pain may be caused by hypermobility, joint instability, or improper posture.

Neuropathic pain: pain related to the nervous system.


Clinical diagnosis: diagnosis based on signs, symptoms, and laboratory findings

Differential diagnosis: the determination of which one of several conditions with similar presentations is the condition causing a patient’s signs and symptoms

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