Cardiology Genetic, Developmental Flashcards
Arteriovenous Malformation (AVM)
An abnormal tangle of blood vessels connecting arteries and veins, which disrupts normal blood flow and oxygen circulation. Arteries are responsible for taking oxygen-rich blood from the heart to the brain. Veins carry the oxygen-depleted blood back to the lungs and heart.
SYMPTOMS: Seizures.
Headache or pain in one area of the head.
Muscle weakness or numbness in one part of the body.
CAUSE: AVMs result from development of abnormal direct connections between arteries and veins, but experts don’t understand why this happens. Certain genetic changes might play a role, but most types are not usually inherited.
Coarctation of the Aorta
A birth defect in which a part of the aorta is narrower than usual. If the narrowing is severe enough and if it is not diagnosed, the baby may have serious problems and may need surgery or other procedures soon after birth.
SYMPTOMS: Chest pain.
Headaches.
High blood pressure.
Leg cramps or cold feet.
Muscle weakness.
Nosebleeds.
CAUSE: The cause of coarctation of the aorta is unclear. The condition is generally a heart problem present at birth (congenital heart defect). Rarely, coarctation of the aorta develops later in life
Patent Ductus Arteriosus (PDA)
A persistent opening between the two major blood vessels leading from the heart. The opening (ductus arteriosus) is a normal part of a baby’s circulatory system in the womb that usually closes shortly after birth. If it remains open, it’s called a patent ductus arteriosus.
A small patent ductus arteriosus often doesn’t cause problems and might never need treatment. However, a large patent ductus arteriosus left untreated can allow poorly oxygenated blood to flow in the wrong direction, weakening the heart muscle and causing heart failure and other complications.
SYMPTOMS: Poor eating, which leads to poor growth
Sweating with crying or eating
Persistent fast breathing or breathlessness
Easy tiring
Rapid heart rate
CAUSE: Congenital heart defects arise from problems early in the heart’s development — but there’s often no clear cause. Genetic factors might play a role.
Before birth, an opening that connects two major blood vessels leading from the heart — the aorta and pulmonary artery — is necessary for a baby’s blood circulation. The connection diverts blood from a baby’s lungs while they develop, and the baby receives oxygen from the mother’s circulation.
After birth, the ductus arteriosus normally closes within two or three days. In premature infants, the opening often takes longer to close. If the connection remains open, it’s referred to as a patent ductus arteriosus.
The abnormal opening causes too much blood to flow to the baby’s lungs and heart. Untreated, the blood pressure in the baby’s lungs might increase (pulmonary hypertension) and the baby’s heart might enlarge and weaken.
Atrial Septal Defect
A birth defect of the heart in which there is a hole in the wall (septum) that divides the upper chambers (atria) of the heart. A hole can vary in size and may close on its own or may require surgery.
SYMPTOMS: Shortness of breath, especially when exercising.
Fatigue.
Swelling of legs, feet or belly (abdomen)
Irregular heartbeats (arrhythmias)
Sensation of a rapid, pounding heartbeat (palpitations) or skipped beats.
Whooshing sound that can be heard through a stethoscope (heart murmur)
CAUSE: The cause of atrial septal defect is unclear. Atrial septal defect is a structure problem that occurs during heart development while a baby is still in the womb. Genetics, certain medical conditions, use of certain medications, and environmental or lifestyle factors, such as smoking or alcohol misuse, may play a role
Tetralogy of Fallot
A combination of four congenital heart defects. The four defects are a ventricular septal defect (VSD), pulmonary stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). They usually result in a lack of oxygen-rich blood reaching the body.
SYMPTOMS: A bluish coloration of the skin caused by low blood oxygen levels (cyanosis)
Shortness of breath and rapid breathing, especially during feeding or exercise.
Poor weight gain.
Tiring easily during play or exercise.
Irritability.
Prolonged crying.
Heart murmur.
Fainting.
CAUSE: While the exact cause of tetralogy of Fallot is unknown, some things might increase the risk of a baby being born with this condition. Risk factors for tetralogy of Fallot include: A viral illness during pregnancy, such as rubella (German measles) Drinking alcohol during pregnancy.
