Congenital Heart Disease 3x PDF

Dr. Figen Akalın Congenital heart diseases are developmental structural abnormalities of the heart which causes abnormal hemodynamics and symptoms in the patients. 1. Genetic factors a) chromosome defects b) single gene mutation 2. Familial characteristics 3. Environment...

Dr. Figen Akalın Congenital heart diseases are developmental structural abnormalities of the heart which causes abnormal hemodynamics and symptoms in the patients. 1. Genetic factors a) chromosome defects b) single gene mutation 2. Familial characteristics 3. Environmental causes a) intrauterine exposures (maternal infections, maternal diabetes,drug exposure) b) general (altitude, season) 4. Multifactorial inheritance 1. Acyanotic congenital heart disease Which one of below is acyanotic, cyantoic heart disease ?? a) Defects causing left to right shunt (ASD, VSD, PDA, AV canal , AP window) b) Stenotic or obstructive defects (AS, PS, CoA ) 2. Cyanotic congenital heart disease (TGA,TOF, Tricuspid Atresia, Truncus arteriosus, Ebstein anomaly, DORV, TAPVR)  Which one the Types of VSD: below is not one the ventricukar 1. Perimembranous defects septal defects ? - inlet - outlet - trabecular -confluent. 2. Muscular defects -inlet -outlet -trabecular 3. Doubly committed juxtaarterial defects Ventricular Septal Defect (VSD) is a congenital heart defect characterized by an abnormal opening in the ventricular septum, the wall separating the left and right ventricles. VSDs can be classified based on their anatomical location and characteristics. Below are the types of VSDs along with their specific subcategories: 1. Perimembranous Defects These defects occur at the membranous septum, which is the fibrous part of the ventricular septum located near the aortic and tricuspid valves. Inlet VSD: Located near the inlet of the ventricles, just below the tricuspid valve. It typically involves the area near the valve and can affect the function of the tricuspid valve. Outlet VSD: Also referred to as conal or infundibular VSD. Located in the region leading to the pulmonary artery, near the outflow tract of the right ventricle. May be associated with pulmonary stenosis. Trabecular VSD: Located within the trabecular (muscular) part of the septum. These are often multiple defects occurring in the muscular septum, rather than in the membranous area. Confluent VSD: This term can refer to defects that communicate between multiple muscular VSDs, potentially leading to a larger defect due to the proximity of smaller muscular holes merging into a larger one. 2. Muscular Defects Muscular VSDs are located in the muscular part of the ventricular septum. Inlet Muscular VSD: Located in the inlet portion of the muscular septum, similar to inlet perimembranous defects but specifically within the muscular region. Outlet Muscular VSD: Located in the outlet region of the muscular septum, corresponding to the area that leads to the right ventricle and pulmonary artery. Trabecular Muscular VSD: Multiple small defects scattered throughout the muscular septum, often not limited to a single region, leading to a patchy appearance. 3. Doubly Committed Juxtaarterial Defects Doubly Committed Juxtaarterial VSD: This type of defect occurs near the aortic and pulmonary outflow tracts and is often associated with aortic and pulmonary valves. The defect is located just beneath the aortic and pulmonary valves, hence “doubly committed.” It allows shunting between both ventricles and can lead to complications such as volume overload of the right ventricle.  The magnitude of the left to right shunt depends on the size of the defect and the level of pulmonary vascular resistance (PVR). why do we not see symptomatic infents with vsd In neonates, PVR is high and gradually decreases. Even if If large not small vSD and trucncus artetiosis remain there is a large defect the patient may not have symptoms untreated we will see until PVR decreases and shunt increases at 6th or 8th esienmenger syndrome which is an irreversible weeks of age. change in in oulomnary arterioles. Leading to decrease in l to R shunt and increase in R to L If large VSD is left untreated irreversible changes take Shunt. place in pulmonary arterioles which causes Pulmonary vascular obstructive disease and Eisenmenger syndrome. Pulmonary Hypertension will be persistant, left to right shunt will disappear, bilateral shunt may cause cyanosis Small restrictive VSD Usually no clinical problem. Moderate or large VSD Significant shunt after 6-8 weeks Congestive heart failure Pulmonary hypertension Eisenmenger syndrome  Pansystolic murmur on 3. or 4. intercostal spaces (Tricuspid region) Large shunt Diastolic rumble at the apex Pulmonary hypertension 2nd heart sound is loud Large VSD we will hear 2nd heat sound. True Eisenmenger syndrome Shunt decreases intensity of the murmur decreases Second heart sound single and loud What is the characteristic sound you will here in eisenmneger syndrome ? ECG: Left ventricular hypertrophy Left atrial enlargement PH Right ventricular hypertrophy X-ray: Cardiac enlargement prominent pulmonary artery segment Increased pulmonary artery markings Eisenmenger syndrome Small cardiac silhouette prominent PA segment distal tapering of pulmonary arteries  What are the indications for surgery in Spontaneous closure 1/3 rd of defects VSD ? Patient with aortic regurgitation and heart failure have to be trated with surgery immediately. Indications for surgery: While in eisenmenger syndrome surgery is contraindicated Infancy: Intractable heart failure Growth retardation Recurrent respiratory tract infections Older children: Qp/Qs > 1.5 , PVR < 0.5 SVR Aortic regurgitation Eisenmenger syndrome Surgery contraindicated Transcatheter closure is possible in some types of defects. Types of Atrial septal defects: Secundum type Sinus venosus type. Coronary sinus type Ostium primum type (Partial AV canal defect) The magnitude of left to right shunt depends on the So in ASD we usually see left to size of the defect and the relative compliance of left right shunt in diastole due to higher right ventricular and right ventricles compliance Right ventricle is normally more compliant than left ventricle, this causes left to right shunt during diastole. Heart failure and pulmonary hypertension We see a strong S2 in VSD but we see wide S2 and fixed at 3.-4. decade splitting because timing of the vavlve closure is not delayed in VSD Frequent respiratory tract infections Arrhythmia Cerebral embolism Auscultation: Soft systolic murmur at 2nd left intercostal space S2 wide and fixed splitted X-ray: Enlarged right atrium, right ventricle and pulmonary artery Increased pulmonary vascular markings ECG: Right ventricular hypertrophy Right bundle branch block Spontaneous closure may occur in small defects in infancy. Qp/Qs > 1.5 Surgery or transcatheter closure indicated ASDs are normally closed between 3-5 years of age. Functional closure in 10-15 hours Anatomical closure in 2-3 weeks PDA is defined as the persistent patency of the ductus in infants older than 3 months. Pathophysiology is similar to VSD PDA is common in preterm babies. Auscultation: Continuous murmur in the left subclavian region Apical diastolic rumble PH Loud P2 In PDA you will hear a continuous murmur in left subclavian in apical ECG: Left atrial dilatation diastolic rumble unlike VSD diayolic murmur at apex Left ventricular hypertrophy X-ray: Marked cardiomegaly Increased pulmonary vascular markings Treatment of heart failure Surgical ligation of the duct Transcatheter closure Prophylaxis for endocarditis Preterm neonates- Prostaglandin inhibitors (Indomethacine, Ibubrufen, Paracetamole) 1. Pulmonary blood flow is dependent upon ductus Pulmonary atresia, Critical pulmonary stenosis, Severe TOF... 2. Systemic blood flow is dependent upon ductus Aortic atresia, Mitral atresia, Critical aortic stenosis, Coarctation of aorta or interrupted aortic arch Hypoplastic left heart syndrome 3. Ductus dependent mixing Transposition of great arteries  Which one of the sentances nelow is coreect about AV canacl defect ? Partial AV Canal- Primum ASD +Mitral cleft Complete AV canal- Primum ASD+ Inlet VSD+Common AV valve Common in children with Down Syndrome ECG Extreme left axis deviation X-RAY Cardiomegaly Increased pulmonary vascular markings TREATMENT- Surgery Bluish color of skin and mucous membranes Cyanosis becomes visible when reduced Hb level is 5 gr/100ml. In central cyanosis peripheral Oxigen peripheral cyanosis is founf in perioral saturation is decreasedarea or fingernails 1. Central cyanosis Desaturated Blood bypassing effective alveolar units Intracardiac right to left shunt (CHD) Intrapulmonary shunt Pulmonary hypertension Inadequate alveolar ventilation CNS depression Inadequate ventilatory drive Obstruction of the airways Pulmonary disease Weakness of respiratory muscles Peripheral cyanosis Circulatory failure, shock Congestive heart failure Acrocyanosis of newborn Abnormal Hemoglobin Methemoglobinemia Carbon monoxide poisoning 1. Obstructive lesions cause right to left shunting and reduced pulmonary blood flow TOF, Tricuspid atresia, Pulmonary atresia 2. Discordant ventriculoarterial connection TGA 3.Common mixing situations Atrial level (common atria, TAPVR) Ventricular level (univentricular heart) Arterial level (truncus arteriosus) Polycythemia Clubbing Hypoxic spells Squatting Growth failure CNS complications Bleeding disorders Scoliosis Hyperuricemia and gout VSD Right ventricular outflow tract obstruction Right ventricular hypertrophy Dextroposition of the aorta Auscultation: Systolic ejection murmur at the left 2nd and 3rd intercostal spaces P2 is low and often inaudible usually S2 is single ECG: Right axis deviation Right ventricular hypertrophy X-ray: Normal heart size boot shaped heart “coeur en sabot” Pulmonary vascularity is decreased. Surgery: Palliative (Blalock-Taussig shunt) Total correction 1.Knee-chest position Which one of below is a hypoxic spell treatment 2.Morphine sulphate (0.001-0.1 mg/kg sc or im ) 3.Nasal oxygen 4.Na HCO3 5.IV fluid 6.Propranolol 0.1 mg/kg iv (2mg/kg / day po to prevent spell) 7.Phenilephrine Pulmonary atresia + VSD Pulmonary atresia+intact ventricular septum Prostaglandin E1 Blalock-Taussig shunt Pulmonary valvotomi Unifocalisation of branch pulmonary arteries in VSD+PA Conduit between right ventricle and pulmonary artery Total cava-pulmonary connection (Fontan Op) in PA+IVSD if right ventricle is hypoplastic Concordant AV connection Discordant VA connection Auscultation: No murmur Single S2 X-ray: Cardiomegaly Increased pulmonary vascular markings ECG: Right ventricular hypertrophy Right axis deviation Palliative Balloon atrial septostomy Blalock Hanlon septectomy Corrective Arterial switch operations (Jatene ) Atrial switch operations (Senning, Mustard) TGA+VSD+PS Intracardiac tunnel+extracardiac conduit (Rastelli procedure) AV and VA discordance Physiologically corrected circulation  No connection between the right atrium and right ventricle. Clinical findings: Pulmonary blood flow cyanosis Pulmonary blood flow heart failure ECG: Left axis deviation left ventricular hypertrophy, right atrial enlargement. Treatment: Palliative- Balloon atrial septostomy Blalock Hanlon atrial septectomy Corrective-Fontan operation. Single great artery giving origin to systemic, pulmonary and coronary arteries A large VSD always present Clinical findings: Cyanosis- correlates pulmonary flow Congestive heart failure Early PVOD Surgery before 6 months or 1 years Downward displacement of tricuspid valve Auscultation: Multiple clicks Splitted first and second heart sounds ECG: Right atrial enlargement (himalayan P waves) Atrial fibrillation WPW syndrome common X-ray: Normal or extreme cardiomegaly Treatment: Clinical observation Treatment of arrhythmia Surgical intervention DOUBLE INLET VENTRICLE Univentricular AV connection Both left and right atria drains into the same ventricle. DOUBLE OUTLET VENTRICLE Both great arteries arises from the same ventricle ( DORV, DOLV) HYPOPLASTIC LEFT HEART SYNDROME Stenotic or obstructive Congenital Heart Diseases Coarctation of Aorta Aortic Stenosis Pulmonary Stenosis Mitral Stenosis Tricuspid Stenosis Narrowing of the aorta in the thoracic descending aorta 5-8 % of patients with congenital heart disease More common in males. Arterial pressure increases proximal to the coarctation. Afterload to the left ventricle increases Pressure difference between proximal and distal portions of the constriction (Hypertension in the upper extremities) Blood pressure in the legs is lower than the blood pressure in the arms The low blood pressure below the constriction may result in Hypoperfusion of the kidneys Hypertension Femoral pulses are weak or absent Older children absent or weak femoral pulses, upper limb hypertension, headache, nosebleeds, cold feet, calf pains on exercise ECG : Left ventricular hypertrophy. X-ray: Poststenotic dilation of the descending aorta distal to the coarctation (3 sign, E sign) Rib notching Coarctation of aorta is the commonest structural anomaly causing heart failure in the first week of life in an acyanotic neonate. Treatment: Prostaglandin infusion during neonatal period Surgery Rib notching Echo + Doppler E sign MRI More common in males Valvar, subaortic, supravalvular stenosis In the newborn ,Aortic stenosis presents as critical valvular aortic stenosis.The affected baby has congenital heart failure and low cardiac output.This is a duct dependent situation, PG infusion is necessary In children, patients may be asymptomatic or they may have exercise intolerance. Exertional chest pain, syncope or sudden death may occur with severe obstruction.  What are the physical ex ainations findigs Physical examination: of Aortic stenosis ? Narrow pulse pressure A systolic thrill on the suprasternal notch, on the carotid arteries or upper right sternal border A systolic ejection murmur (diamond type) at the 2nd right intercostal space or 3rd left intercostal space An ejection click with valvar aortic stenosis Paradoxical splitting of the 2nd heart sound ( severe AS) ECG: Left ventricular hypertrophy Left ventricular strain pattern Treatment: Surgery Balloon dilation of the aortic valve  What is the reason fro willams syndrome. Supraaortic stenosis, infantile hypercalcemia, multiple stenosis in peripheral pulmonary arteries and typical facies (Elphin face) 10 % of congenital heart defects Obstruction to blood flow from right ventricle into the pulmonary circulation Valvar, infundibular, peripheral (supravalvar) PS Pressure overload on the right ventricle right ventricular hypertrophy Clinical findings: Mild PS- completely asymptomatic Severe PS- exertional dispnea, chest pain, syncope, cyanosis sudden death What are clincal finsings of plumonary stenosis Auscultation : Systolic thrill and an ejection type systolic murmur at the 2nd left intercostal space Ejection click (valvar PS) Second heart sound is diminished in intensity. ECG: Right ventricular hypertrophy right atrial dilatation X-ray: Normal heart size Decreased pulmonary vascular markings Poststenotic dilatation of the main pulmonary artery Treatment: Balloon valvuloplasty (transcatheter) Surgery Infants with severe ( critical) PS are ductus dependent and PG E1 infusion is indicated. Other OtherCongenital Heart Diseases AV fistulas ( Systemic, Pulmonary, Coronary) Aortopulmonary window Anomalous origin of the left coronary artery from pulmonary artery Cor triatriatum Vascular ring or sling Cardiac position and localization: Levocardia Mezzocardia Dextrocardia Atrial morphology and atrial situs : Solitus Inversus Ambiguous AV connection : type- Concordant Discordant Ambiguous Double inlet ventricle mode- Valves Ventricular topology and morphology Ventriculoarterial connection Concordant Discordant Double outlet Single outlet Arterial relations Cross relation (normal) Parallel relation (TGA) Associated defects (ASD; VSD; PS)  Ventricular Topology and Morphology: Refers to the arrangement and Levocardia structure of the right and left ventricles, which may be normal or underdeveloped (normal left-sided heart), (e.g., in hypoplastic left heart syndrome). mesocardia (midline heart), Ventriculoarterial Connection: and dextrocardia (right- Concordant: Normal connection where the right ventricle is connected sided heart). to the pulmonary artery, and the left ventricle is connected to the aorta. Atrial Situs: Discordant: The right ventricle connects to the aorta, and the left Solitus (normal), ventricle connects to the pulmonary artery, as seen in TGA. inversus (mirror-image), Double Outlet: Both great arteries arise from one ventricle, often and ambiguous (uncertain requiring surgical correction. or mixed arrangement, seen Single Outlet: Only one great artery arises from the heart, such as in in heterotaxy). truncus arteriosus. AV Connection Arterial Relations: Types: Cross Relation (Normal): The aorta and pulmonary artery cross each Concordant other, which is normal. (normal), discordant (atria Parallel Relation (TGA): The arteries run parallel, leading to severe connected to the wrong circulatory problems. ventricles), ambiguous Associated Defects: (uncertain), and double inlet ASD, VSD, and Pulmonary Stenosis (PS) are common defects ventricle (both atria associated with these conditions, often exacerbating the abnormal physiology connected to one ventricle). and requiring surgical intervention.