[Music] congenital heart disease is a group of conditions present at birth that are characterized by structural abnormalities disturbing normal function of the heart and are the most common form of birth defects there are quite a few of them so to make them easier to remember you can divide them into three main types those causing movement of blood from the left to the the right side of the heart so left to right shunting also termed acyanotic as deoxygenated blood does not cross to the left side and those that cause right to left shunting called cyanotic because this time deoxygenated blood does move to the left causing high amounts of deoxygenated hemoglobin in the arterial blood and therefore a blue discoloration to the skin and mucous membranes obstructive defects are the third type in normal circumstances we know that blood travels from the superior and inferior venne Cava to the right side of the heart through the right atrium then right ventricle into the pulmonary artery and vasculature within the lungs for oxygenation before being returned via the pulmonary veins to the left atrium then left ventricle before being pumped into the aorta and around the body the pressure on the right side is typically much lower than the pressure on the left and this becomes important because if there is a defect that connects both sides blood will flow from high pressure to lower pressure left to right shunting means blood moving from the left to the right side of the heart and so more blood flow into the pulmonary vasculature the vasculature then responds by increasing the pulmonary vascular resistance giving pulmon mon Ary hypertension over time this leads to remodeling of the pulmonary vasculature and becomes permanent which combined with the increased blood volume in the right ventricle eventually leads to failure of the right ventricle The increased pressure in the pulmonary circulation can mean the pressure on the right side is higher than the left which then causes the shunt to reverse directions and go from right to left this is known as Eis and manga syndrome and can occur with all congenital heart diseases causing left to right shunting it can cause central cyanosis sew a blue discoloration to the mucous membranes such as the lips as well as an elevated red blood cell count termed erthrocytes which occurs in response to Chronic hypoxemia other features of Eisen MERS include dispnea on exertion fatigue Syncopy and as we mentioned can lead to heart failure the most common of the congenital heart diseases is ventricular septal defect where there is a hole present in the ventricular septum allowing blood to flow between the left and the right ventricles they represent around 20% of congenital heart disease there are several different positions of this hole examples being Outlet when it's located below the level of the semi Luna valves which to the aortic and Pulmonary valves Inlet when it is located below the atrioventricular valves perimembranous if located close to the membranous septum that is the portion of the ventricular septum closer to the superior posterior portion of the right ventricle and muscular if located in the muscular portion of the septum note that these are not always congenital for example a complication of Mi can be development of of a vssd these allow blood to move from the left to the right side of the heart most cases of small vsss will be asymptomatic but larger ones can lead to symptoms of excessive pressure in the pulmonary vasculature including tnea and tachicardia poor feeding and growth Pala and recurrent respiratory infections a physical exam can detect the vssd murmur best heard between the second and fourth intercostal spaces at the left sternal border as a pan systolic murmur with loud second heart sound if pulmonary hypertension is present Echo is the gold standard as it identifies the sight volume and gives an indication of function in larger defects a chest x-ray may show cardiomegaly and prominent pulmonary mark ings while ECG may show ventricular hypertrophy smaller vsds may not require closure while larger defects or those that also have additional defects will likely require diuretics additional feeding and eventually closure which may be done with a trans catheter device or through surgery an atrial sepal defect is similar but instead occurs in the septum between the Atria it makes up around 10% of congenital heart disease and is seen twice as commonly in females as in males similarly to vssd there are four types sinus vosis osteum primum osteum secum and unroofed coronary sinus overall these allow for blood to move from the left atrium to the right atrium small ASDS are typically asymptomatic and not found until adulthood with symptoms such as dispnea on exertion atrial arrhythmias and development of pulmonary vasculature obstructive disease larger ones can present in heart failure failure to thrive and recurrent infections of the lung significant ASDS generate a systolic murmur best heard at the left upper cernal border and will also typically have a fixed splitting of S2 due to the left to right shunting increasing the prel mode of the right ventricle definitive evaluation is done with echocardiography in some cases ASDS will close spontaneously While others will require closure such as with percutaneous transvenous catheters or through open surgery an important point to realize when there is a connection between the left and the right sides of the hearts directly is that blood clots or emol can cross them for example this means a DVT that normally poses the risk of an Ulus traveling up the Venus system and into the lungs generating a pulmonary embolism could instead end up going through the defect and into the arterial circulation generating arterial embolic events like stroke Mi limb and organis schia similarly emboli typically on the left such as those from atrial fibrillation may end up Crossing and generating a pulmonary embolism the ductus arteriosis is a normal part of the cardiovascular system in utero there is the presence of the placenta that provides maternal blood through the umbilical vein largely directly into the inferior vena cava and removes metabolic waste through the umbilical artery blood coming from the superior venne caver is deoxygenated and when mixed with the o oxygenated maternal blood forms partially oxygenated blood that passes into the right atrium blood bypasses the lungs in fetal circulation which is achieved by the presence of the F noal that allows blood to move from the right atrium to the left atrium and then into the left ventricle and aorta this is because in the fetus there is a high pulmonary pressure and so the right side of the heart actually has a higher pressure than the left some blood makes it to the right ventricle and is pumped into the pulmonary artery but the ductus arteriosis connects the pulmonary artery and the aorta so any blood that does get pumped into the pulmonary artery is able to pass into the aorta following birth however things normally change quickly the first breath introduces oxygen into the lungs and results in the pulmonary vascular resistance dropping so blood is able to be pumped into the lungs also with the closure of the umbilical cord the systemic vascular resistance increases causing pressure in the left atrium to increase above that of the right atrium and so this causes closure of the fan ovali the presence of oxygenated blood in the ductus arteriosis causes increased calcium channel activity giving muscle contraction and closure of the ductus arteriosis is typically within 2 to 3 weeks a patent ductus arteriosis is one that doesn't close after birth with rates in at term births being 1 in 5,000 but becomes much more common in prematurity they make up between 9 and 12% of congenital heart disease this causes blood to move from the aorta into the pulmonary artery and increases pulmon monary blood flow leading to pulmonary hypertension and right heart strain as to the other left to right shunts instead of producing a typical Eisen manga syndrome in this case the deoxygenated blood mixes with oxygenated blood more disty than in an ASD or vsd leading to cyanosis affecting the lower half of the body they may be asymptomatic but in more severe cases there is poor growth recurrent infections and dispnea PDA is an example of a cause for a continuous murmur described as having a Machinery character best heard at the left upper sternal border or infraclavicular region prostaglandins are involved in keeping the patent ductor arteriosis open therefore a treatment option in smaller cases and non-steroidal anti-inflammatories like ibuprofen or indomethacin that inhibit prostag gland in activity while surgery including the use of coils are other options in more severe or older cases the pulmonary veins normally connect to the left atrium bringing oxygenated blood back from the lungs but sometimes they can connect to other places in partial cases there are at least one pulmonary vein that is correctly connected while the others could be connected to the right atrium or systemic veins including the inferior vena cava which is part of simitar syndrome if all of the pulmonary veins are abnormal termed total anomalous pulmonary Venus connection connecting to the right atrium or systemic veins this means that oxygenated blood coming from the lungs does not make it to the aorta and so this is in Inc compatible with Life if there is no connection such as an ASD altogether these defects make up less than 1% of congenital heart disease one abnormal vein connection is usually asymptomatic otherwise the presentation is similar to ASD those that are complete with large atrial connections will typically have mild cyanosis and increased pulmonary flow while if the pulmonary veins are obstructed the newborn can present with respiratory distress due to pulmonary edema Eko may not be able to diagnose partial abnormal Venus connections therefore CT or MRI are options in cases where there is right-sided volume overload surgery is required now let's look at the right to left shunts also known as cyanotic shuns the tetrology of phow makes up around 4 to 8% of all all congenital heart disease and as the name suggests it has four main abnormalities there is an outlet vsd pulmonary stenosis or right ventricular outflow tract obstruction right ventricular hypertrophy and an overriding aorta the typical presentation is Progressive cyanosis after birth and development of exertional diser as a child poor growth is also typical as is erythrocytosis due to the chronic hypoxemia there are episodes of worsening features known as tet spells where there is agitation increased cyanosis and Rapid shallow breathing these are often triggered by exertion as carbon dioxide is generated and causes vasod dilation which means blood is more likely to pass into the aorta then into the pulmonary vasculature giving hypoxemia in older children these episodes feature squatting in an attempt to increase the systemic vascular resistance and improve the hypoxemia untreated they can lead to seizures and death the typical murmur is best heard at the left upper sternal border during syy often with radiation to both aill chest x-ray May feature a boot-shaped silhouette due to the upturned Apex from the right ventricular hypertrophy in contrast to PDA in severe cases prostaglandins may be given to try to maintain the ductus arteriosis and therefore increase pulmonary blood flow although surgical repair is the only definitive treatment in some cases the aorta can arise from the right ventricle while the pulmonary artery arises from the left ventricle this is known as transposition of the great arteries and makes up 4% of all congenital heart defects this effectively generates two completely separate circulations and is not compatible with Life without some form of connection between the two such as through an ASD vssd or PDA these usually develop cyanosis in the first hours of life and is an emergency those who do not are likely to develop features of heart failure in the first weeks of Life diagnosis is suspected clinically but often other than sosis the physical exam is unremarkable chest x-ray may show an egg on a string appearance but echocardiography is generally used to confirm the diagnosis prostag gland in E1 is also used here to maintain the PDA But ultimately surgery will be needed this is often an atrial switch done normally in the first weeks of Life Epstein's anomaly is rare and is a malformation of the tricuspid valve it typically features severe tricuspid regurgitation and typically also an ASD the malformation sets the tricuspid valve more inferior than usual making the right atrium larger and the right ventricle smaller it has been linked with maternal use of lithium the right atrial pressures can exceed that of the left leading to the right to left shunting some cases can actually be asymptomatic and may lead normal lives While others can present with heart failure cyanosis or poor growth and feeding as a newborn while the presentation can include exertional dispar and atrial arrhythmias in adults there is often a split S1 sound due to delayed closure is also usually a systolic murmur due to the regurgitation there may also be a galloping character due to the additional S3 and S4 [Music] sounds and an x-ray tends to show cardiio megal with right-sided prominence and this is reflected on an ECG with tall p waves and wolf Parkinson White being associated in 15% of cases Echo is again the first line choice for assessment severe cases can benefit from prostag glandon E1 to keep the ductor arteriosis open and promote more pulmonary blood flow until the resistance Falls but surgery is the only definitive treatment aortic coarctation is a narrowing in the aortic Arch typically just proximal to the ductus arteriosis and makes up around 5% of congenital heart disease 70% of patients will also have a bicuspid aortic valve and it is more common in males than in females but is often associated with turner syndrome in females the narrowing means that there is less blood flow and blood pressure distal to the narrowing while the pressure is higher proximal to it the aortic Arch features three main branches the brachio falic trunk left common cored artery and the left subclavian AR Tre the narrowing can occur between these three branches therefore taking blood pressure from all four limbs will give an idea as to where the narrowing lies mild cases may not appear until adulthood typically presenting with hypertension while in severe cases the ductus arteriosis is the major contributor to blood flow below the coact which means that after birth and after this closes the newborn develops metabolic acid dois shock and possibly death a murmur may be heard in the left infraclavicular region but the CT is generally used to confirm the diagnosis treatment may involve medical management initially such as beta blockers in hypertensive adults but in more severe or young cases surgical correction and balloon dilation are options