Structural / Congenital Heart Disease Flashcards
List of Congenital Heart Defects
• Atrial septal defect (ASD)
• Ventricular septal defect (VSD)
• Atrio-ventricular septal defect (AVSD)
• Tetralogy of Fallot (TOF)
- Bicuspid aortic valve (BAV)
- Coarctation of the aorta (COA)
- Pulmonary stenosis (PS)
- Ebstein’s anomaly (EA)
- Transposition of the great arteries (TGA)
What is the most common congenital defect in babies?
VSD
What is the pathology of an atrial septal defect?
Pathology is due to left to right shunting from higher pressure left atrium and volume loading.
- Patent foramen ovale
- Failure of the septum secundum to grow properly
What can you hear on auscultation in cases of an atrial septal defect?
Ejection systolic murmur
What complications can an atrial septal defect cause?
- Failure to thrive in children
- Right heart failure
- Arrhythmias such as atrial flutter
- Embolic events
- Pulmonary hypertension
Treatment is closure.
Atrial septal defects may commonly be seen in which patients?
Down syndrome patients
Fetal alcohol syndrome
What is a major risk for people with an atrial septal defect?
DVT can cause a stroke.
- paradoxical embolism
What is the effect of having a VSD?
Pathology is due to left to right shunting from higher pressure systemic ventricle. This causes volume loading of the left ventricle.
What can be heard on auscultation in cases of VSD?
Loud/harsh pansystolic murmur
What can a VSD cause?
- Failure to thrive in children
- Left heart failure
- Endocarditis
- Pulmonary hypertension
- Treatment is closure
Eisenmenger syndrome
Eisenmenger syndrome refers to any untreated congenital cardiac defect with intracardiac communication that leads to pulmonary hypertension, reversal of flow, and cyanosis.
Bloods starts shutnting from right to left.
AVSD are common in whom?
Down syndrome babies
What can be heard on auscultation in cases of AVSD?
Pansystolic murmur from the left AV valve regurgitation.
What can an AVSD cause?
- Failure to thrive in children
- Arrhythmias
- Heart failure
- Surgical treatment needed.
Bicuspid aortic valve is linked to what gene?
NOTCH-1 gene
BAV is associated with what other condition?
Coarctation of the aorta.
Coarctation of the aorta.
Aortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts.
- left ventricle has to work harder.
In BAV what is the pathology dependant upon?
Whether the valve is stenotic or regurgitative.
What is it common to hear on auscultation of an BAV?
Common to hear an ejection click on auscultation.
Coarctation of the aorta (COA) commonly occurs where?
Occurs around the area of the ductus arteriosus.
What is the classic sign of a COA?
Reduced femoral pulses
How does COA present in children and in adults?
- If severe in the neonatal period presents with cardiogenic shock or failure to thrive.
- Adults present with hypertension.
What is the treatment for COA?
Treatment is surgical in neonates/small children or stenting in adults.
- Often follow up treatment for blood pressure is needed.
How do infants present with COA?
Lower extremity cyanosis.
In infants COA is closely linked with what?
Patent ductus arteriosus.
What is the embryological remnant of the ductus arteriosus?
Ligamentus arteriosum.
What is the function of the ductus arteriosus?
It allows most of the blood from the right ventricle to bypass the fetus’s fluid-filled non-functioning lungs.
What is the function of the ductus venosus?
The ductus venosus shunts a portion of umbilical vein blood flow directly to the inferior vena cava. Thus, it allowsoxygenated blood from the placenta to bypass the liver.
After birth what causes closure of ductus venosus?
Decrease in prostaglandins.
What are the symptoms of COA in adults?
Increased BP in the upper extremities and the head.
- The increased cerebral blood flow increases risk of berry aneurysms.
Aorta and aortic valve dilates increasing risk of aortic dissection.
Decreased BP in lower extremities - presents as a weak pulse and claudication. Can also lead to decreased perfusion to the kidneys leading to RAAS overactivation.
How does pulmonary stenosis present?
Often asymptomatic, can present in childhood if severe enough with failure to thrive, or in adults as exercise intolerance.
Ebstein anomaly
Ebstein anomaly is a rare heart defect in which the tricuspid valve the valve between the right atrium and the right ventricle of the heart isn’t formed properly. As a result, blood leaks back through the valve and into the right atrium.
How does Ebstein’s anomaly present?
- Failure to thrive
- Arrhythmias due to accessory pathway
- Right heart failure
Tetralogy of Fallot
Tetralogy of Fallot is a combination of four congenital abnormalities:
VSD
Pulmonary valve stenosis
Misplaced aorta
Right ventricular hypertrophy
How does Tetralogy of Fallot present?
Cyanosis - especially of lips and fingers.
Clubbing occurs a few months after birth.
Failure to thrive.
What is meant by failure to thrive?
Feeding difficulty
Failure to gain weight
Failure to develop normally.
How is TOF treated and diagnosed?
Diagnosis: Echocardiography
Treatment : Surgery within first year of life.
Transposition of the great arteries (TOA)
Transposition of the great arteries is a condition where the pulmonary artery and the aorta are swapped over.
The problems associated with TGA occur in the middle of these weeks, when the aorta and the pulmonary artery each attach to the incorrect heart chamber.
What are the symptoms of TGA?
- Cyanosis
- Shortness of breath.
- Lack of appetite.
- Poor weight gain.
What is the treatment for TGA?
Babies might be given prostaglandin E, which keeps the ductus arteriosus open; however, this is typically only a short-term solution, and ultimately the baby’s going to need surgical repair.
How do stenotic lesions manifest?
Stenotic lesions- increase pressure in the chamber preceeding them and leads to dilatation/hypertrophy to absorb the pressure. Leads to a lower end diastolic pressure in the chamber after.
How do atrioventricular valve defects present?
- Arrhythmias- atrial. The atria are sensitive to stretch.
- High pressure to venous system preceeding it.
- High venous pressure leads to fluid build up.
- If it is a regurgitant lesion volume loading to the ventricle and eventually ventricular dilatation and failure.
How do ventricular arterial defects manifest?
- If stenotic-ventricular hypertension
- If stenotic-reduced outflow on exertion
- If regurgitant-ventricular volume loading/dilatation
- If regurgitant- increased flow to vessel downstream leading to vessel hypertension
- If regurgitant-volume loading of the atria
In cases of a patent foramen ovale there is a higher pressure than normal in which chamber of the heart?
Right atrium
What are the four types of ASD?
The most common is the secundum ASD (75%).
Others are primum (20%)
Sinus venosus (4%)
Coronary sinus (<1%) ASD.
What adult symptoms may be seen in ASD?
In adulthood, symptoms are often subtle. You may have decreased exercise tolerance, shortness of breath, increased fatigue, irregular heartbeats, palpitations and/or fainting. If left untreated, you might be at increased risk for stroke, heart failure and/or increased pressure in the lungs, known as pulmonary hypertension (PH).
What complications can arise due to ASD malformations?
An enlarged right heart, which can cause right heart failure
Irregular and rapid heartbeats, such as atrial fibrillation, particularly in the atria
Stroke
Damage to the lung arteries, causing PH
Eisenmenger syndrome
Leaking tricuspid and mitral valves
What is a thrill?
The rumble of blood felt by putting a hand on your chest. This is called a thrill.
How does VSD result in pulmonary hypertension?
If the hole between the two sides is too big, blood will go from the left side of the heart into the right side. This means that extra blood is pumped to the lungs, making the heart and lungs work harder. This can cause high blood pressure in the lungs, which over time may lead to permanent damage in the lung’s blood vessels. Increased blood flow in the heart may also lead to heart failure.
Marfan’s syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. It is an autosomal dominant disorder.
How can Marfan’s syndrome affect the heart?
Some people with Marfan syndrome also have mitral valve prolapse, a billowing of the heart valve that may be associated with irregular or rapid heart beats and shortness of breath. It may require surgery.
Summary of TOF
Tetralogy of Fallot (ToF) is a complex heart defect. If you have ToF, you are born with four different heart problems:
A hole in the wall between your heart’s main pumping chambers (ventricular septal defect or VSD)
A valve between your heart and lungs that is too narrow (pulmonary stenosis or PS)
A right heart chamber with walls that are too thick (right ventricular hypertrophy)
A major blood vessel (aorta) that is misplaced or moved (overriding aorta)
Prophylaxis
Treatment given or action taken to prevent disease.
How is prophylaxis used to prevent endocarditis?
– Avoidance of anything that breaks the skin barrier- unnecessary venflons etc.
– Antibiotics pre-procedure- seems to be most important for pulmonary valve replacements
– Decolonisation of MRSA or MSSA prior to procedures
Blood shunts in which direction in VSD and how does this change over time?
Blood starts off shunting from left to right shunting.
Eventually due to Eisenmenger’s syndrome blood shunts from right to left, which can cause right ventricular heart failure.
Eisenmenger syndrome pertains to what congenital heart defect?
VSD
Summary of Eisenmenger syndrome.
