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Questions and Answers
What is the most common structural defect in congenital heart disease?
What is the most common structural defect in congenital heart disease?
Which of the following congenital heart defects is characterized by a connection between the aorta and pulmonary artery that allows blood to bypass the lungs?
Which of the following congenital heart defects is characterized by a connection between the aorta and pulmonary artery that allows blood to bypass the lungs?
At what rate do congenital heart defects occur among live births?
At what rate do congenital heart defects occur among live births?
Which structure in fetal circulation diverts blood from the umbilical vein to the inferior vena cava?
Which structure in fetal circulation diverts blood from the umbilical vein to the inferior vena cava?
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What is a common presentation of infants and children with congenital heart disease?
What is a common presentation of infants and children with congenital heart disease?
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Which congenital heart defect involves abnormalities in the structure of the heart leading to a combination of four heart defects?
Which congenital heart defect involves abnormalities in the structure of the heart leading to a combination of four heart defects?
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What happens to fetal circulation immediately after birth?
What happens to fetal circulation immediately after birth?
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Which of the following congenital heart defects is associated with a narrowing of the aorta?
Which of the following congenital heart defects is associated with a narrowing of the aorta?
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Which of the following conditions is NOT classified as a cyanotic heart defect?
Which of the following conditions is NOT classified as a cyanotic heart defect?
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What is a common consequence of a left-to-right shunt?
What is a common consequence of a left-to-right shunt?
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Which mnemonic helps remember the components of acyanotic heart defects?
Which mnemonic helps remember the components of acyanotic heart defects?
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What physiological change occurs in Eisenmenger syndrome?
What physiological change occurs in Eisenmenger syndrome?
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Which heart defect is characterized by an abnormal pressure gradient causing right-to-left shunt?
Which heart defect is characterized by an abnormal pressure gradient causing right-to-left shunt?
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Which symptom is often associated with congenital heart defects leading to congestive heart failure in pediatrics?
Which symptom is often associated with congenital heart defects leading to congestive heart failure in pediatrics?
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What defines differential cyanosis?
What defines differential cyanosis?
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During newborn screening for critical congenital heart defects, which site should the screening start?
During newborn screening for critical congenital heart defects, which site should the screening start?
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Which of the following heart defects is characterized by left-to-right shunting?
Which of the following heart defects is characterized by left-to-right shunting?
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Which heart defect is associated with the potential for pulmonary hypertension due to an abnormal shunt?
Which heart defect is associated with the potential for pulmonary hypertension due to an abnormal shunt?
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What are the signs of congestive heart failure in older children?
What are the signs of congestive heart failure in older children?
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Under what circumstances does the left-to-right shunt worsen?
Under what circumstances does the left-to-right shunt worsen?
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In what way does pulmonary arterial hypertension (PAH) primarily affect the endothelium?
In what way does pulmonary arterial hypertension (PAH) primarily affect the endothelium?
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What is the most common type of Ventricular Septal Defect?
What is the most common type of Ventricular Septal Defect?
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Which characteristic murmur is associated with Atrial Septal Defect?
Which characteristic murmur is associated with Atrial Septal Defect?
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Which option describes the physiological consequence of a large Ventricular Septal Defect?
Which option describes the physiological consequence of a large Ventricular Septal Defect?
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What does the presence of rib notching on a chest X-ray indicate in Coarctation of the Aorta?
What does the presence of rib notching on a chest X-ray indicate in Coarctation of the Aorta?
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What is the typical management strategy for a small Ventricular Septal Defect?
What is the typical management strategy for a small Ventricular Septal Defect?
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What symptom is least likely in a patient with Atrial Septal Defect?
What symptom is least likely in a patient with Atrial Septal Defect?
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Which medication is used as a prostaglandin inhibitor for managing Patent Ductus Arteriosus?
Which medication is used as a prostaglandin inhibitor for managing Patent Ductus Arteriosus?
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In the presence of a large Ventricular Septal Defect, what might the murmur status be regardless of CHF symptoms?
In the presence of a large Ventricular Septal Defect, what might the murmur status be regardless of CHF symptoms?
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What is the primary complication associated with Atrial Septal Defect?
What is the primary complication associated with Atrial Septal Defect?
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In a newborn with Coarctation of the Aorta, what is the initial management if the condition is severe?
In a newborn with Coarctation of the Aorta, what is the initial management if the condition is severe?
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What is the characteristic physical examination finding associated with Tetralogy of Fallot?
What is the characteristic physical examination finding associated with Tetralogy of Fallot?
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Which condition requires mixing of blood for survival due to the switched positions of the aorta and pulmonary artery?
Which condition requires mixing of blood for survival due to the switched positions of the aorta and pulmonary artery?
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What is a potential treatment intervention to manage a hypercyanotic spell in Tetralogy of Fallot?
What is a potential treatment intervention to manage a hypercyanotic spell in Tetralogy of Fallot?
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Which diagnostic imaging finding is commonly associated with Transposition of the Great Arteries?
Which diagnostic imaging finding is commonly associated with Transposition of the Great Arteries?
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What is the typical timing of cyanosis presentation in newborns with Transposition of the Great Arteries?
What is the typical timing of cyanosis presentation in newborns with Transposition of the Great Arteries?
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Which medical intervention is used to maintain patency of the ductus arteriosus in Transposition of the Great Arteries?
Which medical intervention is used to maintain patency of the ductus arteriosus in Transposition of the Great Arteries?
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What underlying anatomical defect is primarily responsible for the manifestations of Tetralogy of Fallot?
What underlying anatomical defect is primarily responsible for the manifestations of Tetralogy of Fallot?
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Which medication can be used to manage heart rate during a hypercyanotic spell in Tetralogy of Fallot?
Which medication can be used to manage heart rate during a hypercyanotic spell in Tetralogy of Fallot?
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What is the typical clinical presentation of an infant with Aortic Coarctation?
What is the typical clinical presentation of an infant with Aortic Coarctation?
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Which congenital heart defect is characterized by high-pressure left to right shunting that can lead to Eisenmenger syndrome?
Which congenital heart defect is characterized by high-pressure left to right shunting that can lead to Eisenmenger syndrome?
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What distinguishes the presentations of infantile versus adult Aortic Coarctation?
What distinguishes the presentations of infantile versus adult Aortic Coarctation?
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What is a significant complication associated with untreated Tetralogy of Fallot?
What is a significant complication associated with untreated Tetralogy of Fallot?
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Which defect is most likely to be asymptomatic until adulthood?
Which defect is most likely to be asymptomatic until adulthood?
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Study Notes
Congenital Heart Disease (CHD)
- Most common birth defect, occurring in ~9 per 1000 live births.
- Caused primarily by faulty embryogenesis, with ~15% having known etiologies.
- Presentation ranges from life-threatening conditions to those that go unnoticed throughout life.
- Adult CHD is an expanding medical field.
- Twelve malformations account for 85% of CHD: VSD, ASD, Tetralogy of Fallot, coarctation of aorta, pulmonary stenosis, PDA, transposition of great arteries, atrioventricular canal defect, aortic stenosis, tricuspid atresia, total anomalous pulmonary venous return, hypoplastic left heart syndrome, truncus arteriosus.
Fetal Circulation
- Oxygenation occurs in the placenta, with blood traveling to the right heart via umbilical vein and shunting through:
- Ductus venosus: bypasses fetal liver.
- Foramen ovale: shunts blood from right atrium to left atrium, bypassing lungs.
- Ductus arteriosus: connects pulmonary artery to aorta.
- Post-birth changes include closure of foramen ovale and ductus arteriosus, as pulmonary vascular pressure decreases.
Presentation of CHD in Children
- Newborns: Central cyanosis, shock, signs of congestive heart failure, failed CCHD pulse oximetry screening.
- Infants/Children: Difficulty growing, tachypnea, sweating during feeds, heart failure signs, weak lower extremity pulses, exercise intolerance.
Classification of Congenital Heart Disease
- Acyanotic (left-to-right shunts): Includes VSD, ASD, PDA, and obstructive lesions like coarctation and aortic/pulmonary stenosis.
- Cyanotic (right-to-left shunts): Includes Tetralogy of Fallot, transposition of great arteries, tricuspid atresia, mixing lesions like truncus arteriosus and TAPVR.
Acyanotic Heart Defects Mnemonic
- Mnemonic: "Very Active People Can Always Play"
- V: VSD
- A: ASD
- P: PDA
- C: Coarctation of aorta
- A: Aortic stenosis
- P: Pulmonary stenosis
Cyanotic Heart Defects Mnemonic
- Mnemonic: "The Tough Tigers Tackle Tiny Hares"
- T: Tetralogy of Fallot
- T: Transposition of great arteries
- T: Tricuspid atresia
- T: Truncus arteriosus
- T: Total anomalous pulmonary venous return
- H: Hypoplastic left heart
Congestive Heart Failure in Pediatrics
- Commonly due to left-to-right shunts, resulting in pulmonary congestion and left heart dilation.
- Symptoms: tachypnea, respiratory distress, hepatomegaly, poor weight gain, fatigue with exertion.
- Eisenmenger Syndrome: Occurs when left-to-right shunts reverse direction, leading to systemic distribution of deoxygenated blood.
Newborn Screening for Critical CHD
- CCHD screening introduced in 2018 as routine newborn screening.
- Screening 24 hours post-birth reduces false positives.
- Perform in right hand (pre-ductal) and foot (post-ductal) to monitor for mixing of blood.
Ventricular Septal Defect (VSD)
- Most common CHD (~40-50% of cases), perimembranous type prevalent.
- Presents as holosystolic murmur at left lower sternal border; significant defects may lack a murmur.
- Diagnosis via chest X-ray and echocardiogram.
- Management includes observation, diuretics, or surgical closure for significant cases.
Atrial Septal Defect (ASD)
- Accounts for ~10% of CHD; ostium secundum is most common type.
- Characterized by a left-to-right shunt, leading to right heart dilation.
- Presentation: systolic murmur at left upper sternal border; fixed split S2.
- Managed with regular monitoring and surgical closure for significant cases.
Patent Ductus Arteriosus (PDA)
- More common in premature infants; associated with congenital rubella.
- Continuous “machine-like” murmur; presents with poor perfusion and CHF symptoms.
- Diagnosis through echocardiogram; management may require ibuprofen and surgical closure.
Coarctation of the Aorta
- Represents 5-8% of CHD, often associated with Turner’s syndrome and bicuspid aortic valve.
- Presents with differential cyanosis, upper extremity hypertension, and weak femoral pulses in severe cases.
- Diagnosis via chest X-ray (showing rib notching) and echocardiogram; treatment includes prostaglandin infusion, surgical repair, or balloon angioplasty.
Tetralogy of Fallot
- Accounts for approximately 10% of congenital heart disease (CHD) and is the most prevalent cyanotic heart defect.
- Associated conditions include DiGeorge syndrome (22q11) and CHARGE syndrome.
Anatomy/Physiology
- Characterized by anterior malalignment of the interventricular septum, leading to:
- Ventricular septal defect (VSD)
- Aorta overrides the VSD
- Narrowing of the pulmonary outflow tract, causing right ventricular hypertrophy.
Presentation
- Harsh systolic ejection murmur indicative of pulmonic stenosis.
- Hypercyanotic spells ("Tet spells") can be triggered by stressors like agitation or fever.
- Severity of symptoms correlates with the degree of pulmonary stenosis (PS).
Diagnosis
- Chest X-ray reveals a “boot-shaped heart.”
- Echocardiogram confirms the diagnosis.
Management
- “Tet spells” treated with:
- Heart rate regulation and manipulation of vascular resistance.
- Calming techniques and knee-chest positioning to increase systemic vascular resistance (SVR).
- Oxygen delivery, IV fluid bolus, metoprolol, and phenylephrine.
- Surgical options include palliative procedures (modified Blalock-Taussig-Thomas shunt) and complete repair with VSD closure and removal of RV outflow obstruction.
Transposition of the Great Arteries
- Second most common cyanotic CHD, constituting 2-5% of overall CHD cases.
- Strongly linked to maternal diabetes.
Anatomy/Physiology
- Aorta is connected to the right ventricle, while the pulmonary artery connects to the left ventricle, necessitating blood mixing for survival.
Presentation
- Newborns exhibit cyanosis within the first 12 hours and show little response to oxygen therapies.
- Symptoms of congestive heart failure may appear, and a VSD can delay the presentation.
Diagnosis
- Chest X-ray indicates an “egg on a string” appearance.
- Confirmatory echocardiogram is used.
Management
- Use of prostaglandins to maintain patent ductus arteriosus (PDA) to facilitate blood mixing.
- Balloon atrial septostomy may enlarge the atrial septum to improve oxygenation before surgical intervention.
- Arterial switch procedure typically performed within two weeks of life.
Key Differences in Shunts
- Cyanotic conditions involve right-to-left shunting, bypassing pulmonary circulation (e.g., Tetralogy of Fallot & Transposition of Great Arteries).
- Acyanotic conditions feature left-to-right shunting causing pulmonary hypertension (e.g., atrial septal defects, ventricular septal defects, patent ductus arteriosus).
Other Conditions
Atrial Septal Defects
- Usually asymptomatic until adulthood.
- Left to right shunt, generally well tolerated unless exceeding 1 cm in diameter.
- Can result in pulmonary hypertension.
Ventricular Septal Defects
- Small defects may be asymptomatic, with about half closing spontaneously.
- Larger defects lead to significant left to right shunting and pulmonary hypertension.
Patent Ductus Arteriosus
- Presents a high-pressure left to right shunt with noticeable "machinery-like" murmurs.
- Minor cases are not significant, but larger defects risk developing Eisenmenger syndrome with cyanosis and CHF, along with an increased endocarditis risk.
Aortic Coarctation
- Infantile form presents early in life with bilateral lower body cyanosis and requires surgical correction to prevent death.
- Adult form may be asymptomatic, leading to upper body hypertension and lower body claudication or coldness.
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Description
Test your knowledge on Congenital Heart Disease (CHD) and the complexities of fetal circulation. This quiz covers common malformations, their presentations, and the unique aspects of fetal oxygenation. Understand the transition from fetal to postnatal life and the implications for adult CHD.
