Congenital heart conditions Flashcards
What is the most common congenital heart defeat overall?
Bicuspid aortic valve (BAV). Prevalence: 1-2% of the general population (most common congenital heart defect at birth). BAV is often asymptomatic in childhood and early adulthood. It is usually incidentally discovered during echocardiography for other reasons (e.g., murmur evaluation). Many cases remain undiagnosed until complications develop later in life (e.g., early-onset aortic stenosis, thoracic aneurysms, or aortic regurgitation in the 40s-50s). BAV is a typical finding in Turner syndrome and Noonan syndrome.
Bicuspid aortic valve (BAV) is known to be paired with what other cardiac conditions?
Bicuspid aortic valve can occur in isolation or in association with other congenital cardiovascular abnormalities, including coarctation of the aorta, sub- or supravalvular aortic stenosis, ventricular septal defect, and sinus of Valsalva aneurysm.
Bicuspid aortic valve (BAV) is known to cause what dangerous condition?
Bicuspid aortic valve increases the risk for aortic dilation (thoracic aneurysms), with a reported prevalence of 20%-80%. Progressive aortic dilation can occur in the aortic sinuses, aortic root, or ascending aorta, leading to aortic aneurysms formation and risk for aortic dissection. Patients with BAV should have a thorough evaluation with echocardiogram, CT, or MRI imaging to assess the aortic root and ascending aorta for dilation.
What is the first thing done to distinguish between an underlying heart condition and pulmonary condition when neonates present with central cyanosis shortly after delivery?
Provide O2 to determine improvement.
If a newborn has central cyanosis, a blue discoloration involving mucous membranes and/or any part of the skin, there is excessive deoxygenated hemoglobin, and initial management includes 100% oxygen administration to attempt to improve oxygen saturation and help identify the underlying cause. In primary pulmonary disorders (eg, meconium aspiration, focal pneumonia), the administration of 100% oxygen typically results in substantially increased (ie, ≥10%) oxygen saturation and improved cyanosis. These patients typically also have respiratory distress or abnormal pulmonary findings (eg, crackles). In contrast, in cyanotic congenital heart disease oxygen administration does not significantly increase oxygenation because of anatomic right-to-left shunting.
Fill in the blank: Ebstein anomaly is characterized by _______ of the right ventricle due to a malformed tricuspid valve.
atrialization
What is Ebstein anomaly characterized by?
Atrialization of the right ventricle due to a malformed tricuspid valve
Severely affected newborns present with tricuspid regurgitation and cyanosis
What are the symptoms of severely affected newborns with Ebstein anomaly?
Tricuspid regurgitation and cyanosis
Some infants may have mild symptoms
What medication increases the risk for developing Ebstein anomaly?
Lithium
Is Ebstein anomaly likely in a patient with a normal second-trimester ultrasound?
No
This diagnosis is unlikely in patients with normal ultrasounds
How is Ebstein anomaly
How is Ebstein anomaly diagnosed?
TTE.
What is the definative treatement for Ebstein anomaly?
Surgical repair.
What does hypoplastic left ventricle cause circulation to be dependant on?
Hypoplastic left heart syndrome will require the right ventricle to deliver both pulmonary and systemic circulation.
It is an embryologic malformation that occurs early in the first trimester
When is hypoplastic left heart usually discovered?
usually recognized on second-trimester ultrasound
What condition is hypoplastic left ventricle associated with in mothers?
Pregestational diabetes
hypoplastic left ventricle will presents with
cyanosis and is often respiratory distress with decreased peripheral pulses.
hypoplastic left ventricle will require immediate treatment with
Alprostadil and transcatheter septoplasty to maintain shunting followed by surgical repair.
hypoplastic left ventricle will be best diagnosed with … ?
TTE
What is coarctation of the aorta typically associated with?
Turner syndrome
What are the symptoms of neonates with severe coarctation of the aorta?
Weak femoral pulses and decreased postductal oxygen saturation
Aortic arch indentation (3 sign) is seen on radiography
What condition is congenital pulmonary valve stenosis typically associated with?
Noonan syndrome
Right ventricular outflow tract obstruction may result in cyanosis if right-to-left shunting occurs
Infants born to mothers with diabetes and poor glycemic control are at increased risk for what condition?
Transient hypertrophic cardiomyopathy
This is due to excess glycogen deposition in the fetal myocardium
What may be early signs of congestive heart failure in infants with hypertrophic cardiomyopathy?
Tachypnea and respiratory distress.
These signs may indicate heart failure
True or False: Hypoplastic left ventricle is often recognized on second-trimester ultrasound.
True
What congenital anomaly causes a narrowing (that usually just distal to the left subclavian artery) of the largest artery?
coarctation of the aorta
What is coarctation of the aorta?
A narrowing of the descending aorta, typically just distal to the left subclavian artery origin.
What component of the aorta is thickened to cause coarctation of the aorta?
Tunica media of the aortic arch.
How does coarctation of the aorta present in newborns?
Tachypnea and respiratory distress. This usually occurs after closure of the ductus arteriosus, which is days after birth.
What is a major complication observed in neonates with severe coarctation of the aorta?
Weak femoral pulses. Neonates with severe coarctation are at risk for life-threatening heart failure (HF) and shock following patent ductus arteriosus closure. However, milder narrowing of the aorta is often asymptomatic and diagnosed later, such as during childhood.
This indicates compromised blood flow
What are the risk factors or associations for coarctation of the aorta?
Generally idiopathic and congenital. It is associated with bicuspid aortic valves and Turner syndrome or acquired with Takayasu arteritis.
What are the clinical features of coarctation of the aorta?
Upper-lower body blood pressure differential, brachial-femoral pulse delay, upper body hypertension (headaches, epistaxis).
What murmur is associated with coarctation of the aorta?
Cardiac examination may reveal a continuous murmur due to blood flow through collateral circulation, a systolic murmur at the left sternal border (eg, interscapular area from turbulent flow across the narrowed aorta, or no murmur if no other cardiac defects (eg, bicuspid aortic valve) are present, however an interscapular murmur due to collateral circulation is common.
What are the chest X-ray findings in coarctation of the aorta?
Chest X-ray may show rib notching caused by arterial collaterals. This is a later finding and a characteristic rib notching from collateral vessels and a figure “3” sign at the site of aortic narrowing.
What are the symptoms seen in children who may have been born with a mild form of coarctation of the aorta and present at a later time in life?
- Claudication in the lower extremities during play.
- Weaker femoral pulses.
- Hypertension in the upper extremities or epistaxis.
What are the ECG findings in coarctation of the aorta?
ECG may show left ventricular hypertrophy (LVH).
When does this occur secondary to aortic coarctation?
Rib notching typically occurs in long-standing, untreated coarctation of the aorta, usually after the age of 4–5 years. Intercostal arteries (enlarged due to increased flow from the internal thoracic/mammary arteries) to assist with the perfusion beyond the coarctation.
How is coarctation of the aorta managed?
In patients with significant stenosis causing elevated pressure gradient, surgical correction or balloon angioplasty is indicated.
What congenital anomaly of the aortic arch results in the compression of the trachea or esophagus.
vascular rings
What is the underlying anomaly in vascular rings?
Congenital anomaly causing a double formation of the aortic arch causing compression of nearby structures. The right and left pharyngeal arch arteries persist postnatally forming of a vascular ring (double aortic arch) that leads to the constriction of the trachea and esophagus.
What are the risk factors or associations for vascular rings?
Idiopathic, but can be associated with CHARGE syndrome, Down syndrome, and DiGeorge syndrome.
What are the clinical features of vascular rings?
Respiratory distress, tachypnea, cyanosis. Symptoms may include difficulty breathing, eating, or swallowing.
How can symptoms of vascular rings be temporarily relieved?
Arching back and extending the head can temporarily relieve obstruction by reducing compression.
What is the management of vascular rings?
Surgical correction is the definitive treatment.
What congenital abnormality that usually closes shortly after birth but eventually becomes a left-to-right shunt ?
This is a Patent Ductus Arteriosus (PDA) is a communicating vessel between the aorta and pulmonary artery that remains open in utero due to low oxygen levels and elevated prostaglandin E2 (PGE2) levels. Normally, it closes shortly after birth when oxygen tension levels increase. If it remains patent, a left-to-right shunt occurs.
What are the risk factors for Patent Ductus Arteriosus (PDA)?
Risk factors for PDA include prematurity and maternal rubella infection during pregnancy.
What are the clinical features of PDA?
Clinical features range from asymptomatic presentation to heart failure. Neonates can have grunting and retractions. Persistent large shunts can lead to shunt reversal and Eisenmenger syndrome. Other features include continuous ‘machinery murmur,’ that can be described as holosystolic, wide pulse pressure, and bounding pulses. Patients may also have a differential cyanosis with lower oxygen tension in the lower extremities (cyanosis involving the lower extremities but not the upper extremities).
What is the characteristic murmur associated with PDA?
A continuous ‘machinery murmur,’ best heard at the left infraclavicular region, is characteristic of PDA. This can be described as holosystolic.
How can persistent pulmonary hypertension of the newborn (PPHN) lead to PDA?
Postnatal right-to-left shunting through the ductus arteriosus occurs only with an abnormality that causes pulmonary arterial pressure to be greater than systemic arterial pressure. One potential cause is persistent pulmonary hypertension of the newborn (PPHN), in which pulmonary vascular resistance fails to decline immediately after birth. Persistent pulmonary hypertension of the newborn is often triggered by a pulmonary disorder (eg, lung hypoplasia, meconium aspiration, pneumonia), which can cause respiratory distress (eg, subcostal retractions, grunting) and can also contribute to hypoxemia and cyanosis. Flow of deoxygenated blood from the pulmonary artery to the aorta through the ductus arteriosus results in decreased postductal oxygen saturation (eg, in the lower extremities) relative to preductal oxygen saturation (eg, in the upper extremities). With most right-to-left shunts, the pressure gradient across the shunt is low; therefore, the shunt itself rarely creates a murmur (in contrast to the continuous murmur heard with left-to-right shunting through a PDA). The classic murmur of PPHN is a murmur of tricuspid regurgitation resulting from the elevated pulmonary pressure causing tricuspid valve insufficiency (ie, holosystolic murmur at the left lower sternal border). Strong femoral pulses are also consistent with PPHN (other causes of right-to-left shunting through the ductus arteriosus [eg, critical aortic coarctation] are associated with diminished femoral pulses).
What shunting occurs with PDA?
Right-to-left shunting of deoxygenated blood at a location distal to the branch point of the arteries supplying the head and upper extremities (ie, distal to the left subclavian artery), as can occur with shunting through the ductus arteriosus.
Where is the step up in oxygen due to a PDA?
at the right ventricle due to aortic-pulmonary vessel connection.
How is PDA managed in preterm infants?
Management in preterm infants involves pharmacologic closure using indomethacin or ibuprofen, which inhibit prostaglandin synthesis. Surgery is considered if pharmacologic treatment fails.
What complications can arise from untreated PDA?
Complications of untreated PDA include pulmonary hypertension, Eisenmenger syndrome, heart failure, and increased risk of infective endocarditis.
What is the mechanism of action of indomethacin/ibuprofen in PDA closure?
Indomethacin and ibuprofen inhibit cyclooxygenase (COX), reducing prostaglandin E2 levels, which promotes closure of the ductus arteriosus. Contraindications relate to treatment that will make closure of the PDA worse.
How is PDA managed in term infants and older children?
Management in term infants and older children typically involves surgical closure of the PDA.
How is PDA diagnosed?
ECHO
Can having a PDA be an advantage?
Cyanotic heart condition may require a PDA. If this is the cause, patients will get prostaglandin E1 infusion to keep the ductus arteriosus patent until definitive treatment can be performed.
What is the most common congenital heart defect in adults?
ASD. Many patients remain asymptomatic until adulthood. Those with significant shunt flow may have decreased exercise tolerance (ie, dyspnea and fatigue) and other complications such as pulmonary hypertension, right heart failure, stroke due to paradoxical embolization, and atrial arrhythmias (atrial fibrillation or flutter).
What is an Atrial Septal Defect (ASD) and its types?
ASD is a congenital defect of the atrial septum. It is classified into two main types: Secundum, due to arrested growth of the septum secundum or excessive septum primum absorption, and Primum, caused by the failure of the septum primum to fuse with the endocardial cushions, often associated with atrioventricular canal defects.
What is the difference between secundum and primum ASD?
Secundum ASD results from abnormal development of the septum secundum or excess absorption of the septum primum. Primum ASD, associated with endocardial cushion defects, is commonly linked to Down syndrome.
What autosomal dominant disorder characterized by congenital cardiac septal defects (e.g., secundum atrial septal defect) and upper limb defects (e.g., deformity of the carpal bones).
Holt-Oram syndrome, the heart condition associated is Ventricular septum defect and deformity of the wrist, most commonly caused by a mutation in the TBX5 gene.
What is the association between Down syndrome and ASD?
Primum-type ASD is strongly associated with Down syndrome due to defects in endocardial cushion development.
What are the clinical features of ASD?
ASD is asymptomatic until middle age, when it can present with dyspnea, fatigue, and exercise intolerance. Long-standing left-to-right shunting can lead to right heart overload, atrial arrhythmias, and stroke due to paradoxical embolism.
Cardiac auscultation in patients with ASD (with large left-to-right shunt and normal pulmonary artery pressure) typically reveals a characteristic wide and fixed splitting of the second heart sound.
What type of murmur is characteristic of ASD?
ASD is associated with a systolic ejection murmur at the pulmonary area (due to increased pulmonary blood flow), a fixed split second heart sound (S2), and a diastolic flow rumble murmur across the tricuspid area (due to increased right atrial blood flow).
Why does an ASD cause a widely fixed split S2?
The left-to-right shunt increases right ventricular volume, delaying pulmonary valve closure, which does not vary with respiration.
What additional murmur may be heard in ASD?
Diastolic flow murmur across the tricuspid valve due to increased right ventricular preload.
What are the clinical manifestations of an ASD?
Usually asymptomatic until adulthood, when fatigue, exercise intolerance, and right ventricular overload develop.
How are ASDs diagnosed?
Echocardiography with bubble study to assess for right-to-left shunting in cases of paradoxical embolism. Transthoracic echocardiogram can show the abrupt discontinuity of the interatrial septum, with right atrial and ventricular dilation (from volume overload due to left-to-right shunt).
What is the general management of an ASD?
Monitor small asymptomatic ASDs. Large symptomatic ASDs require percutaneous or surgical closure.
How is ASD managed in children?
In children, small and asymptomatic ASDs can be monitored. Large or symptomatic ASDs are managed surgically or percutaneously closed.
How is ASD managed in adults?
In adults, ASD closure is indicated if symptomatic, associated with right ventricular overload, or after an embolic stroke. Closure can be surgical or percutaneous.
What are complications of untreated ASD?
Severe pulmonary arterial hypertension and Eisenmenger syndrome.
Why is surgical closure of ASD contraindicated in patients with severe pulmonary arterial hypertension (PAH)?
Surgical closure is contraindicated in patients with severe PAH as the reversal of the shunt (Eisenmenger syndrome) makes closure ineffective and could worsen symptoms.
Why is a patent foramen ovale (PFO) not considered an ASD?
A PFO is a failure of septal fusion that can be functionally closed, whereas an ASD represents a true deficiency in atrial septal tissue.
What is the most common congenital heart defect?
Ventricular septal defect. An abnormal communication between the left and right ventricle that results in left-to-right shunting of blood flow. Manifests as a loud, harsh holosystolic murmur best appreciated at the left sternal border.
What conditions increase the risk for developing VSD?
Often idiopathic, associated with TORCH infections, maternal diabetes, Down syndrome and fetal alcohol syndrome.
What is the typical murmur of a VSD?
A harsh, holosystolic murmur at the left sternal border, often with a palpable thrill.
What additional murmur may be heard in large VSDs?
A diastolic rumble due to increased mitral valve flow.
Why do smaller VSDs have louder murmurs?
Smaller defects create higher velocity jets, producing a louder murmur, while larger defects have less turbulence and produce a softer murmur.
When do symptoms of VSD typically present?
1-2 months after birth, when pulmonary vascular resistance drops, leading to increased left-to-right shunting and symptoms such as failure to thrive.
What are common syndromes associated with VSD?
Down syndrome and fetal alcohol syndrome.
What are the indications for surgical closure of a VSD?
Large symptomatic VSDs causing failure to thrive, pulmonary overcirculation, or Eisenmenger syndrome (pulmonary hypertension with right-to-left shunting). In about 50% of patients the VSD will close spontaneously.
What is supravalvular aortic stenosis?
A rare form of aortic stenosis due to thickening of the ascending aorta, causing a fixed obstruction to left ventricular outflow.
What genetic syndrome is associated with supravalvular aortic stenosis?
Williams Syndrome (7q11.23 microdeletion).
What is the inheritance pattern of Williams Syndrome?
Most cases are sporadic, but it follows an autosomal dominant inheritance pattern if inherited.
What are the clinical features of Williams Syndrome?
Elfin facies, intellectual disability, hypercalcemia, supravalvular aortic stenosis, friendly personality, and connective tissue abnormalities.
What is the murmur of supravalvular aortic stenosis?
Crescendo-decrescendo systolic murmur similar to valvular aortic stenosis.
How is supravalvular aortic stenosis managed?
Surgical repair is required for high-grade stenosis to prevent complications such as heart failure and myocardial ischemia.
What is the most common cyanotic congenital heart defect to present in the neonatal period?
Transposition of the Great Vessels.
What is the most common cyanotic congenital heart defect beyond the neonatal period?
Tetralogy of Fallot (TOF).
What is the difference in presentation between TOF and transposition of the great vessels?
- Transposition of the great vessels presents with severe cyanosis and respiratory distress at birth.
- TOF presents with progressive cyanosis after the neonatal period.
What affects symptoms to the greatest degree in TOF?
- The degree of right ventricular outflow (RVOF) obstruction.
- The greater the obstruction, the more the right-to-left shunting, causing more cyanosis.
What are the four key defects of Tetralogy of Fallot?
Right ventricular outflow tract (RVOT) obstruction is the primary abnormality in Tetralogy of Fallot. It leads to right ventricular hypertrophy and contributes to right-to-left shunting across the ventricular septal defect (VSD), allowing deoxygenated blood to enter systemic circulation via an overriding aorta. The severity of RVOT obstruction determines the degree of cyanosis.
What is the accompanying murmur with TOF?
Harsh systolic ejection murmur at LUSB (due to RVOT obstruction) that sounds like a systolic crescendo-decrescendo murmur best heard along the left upper sternal border. additionally there is a soft/absent pulmonic component of S2.
What is the hallmark murmur of TOF?
Harsh systolic ejection murmur at the left upper sternal border due to pulmonary stenosis. Crescendo-decrescendo systolic murmur at the left upper sternal border, often with a soft single S2.
How does mild right ventricular outflow obstruction in TOF present?
Minimal cyanosis, but potential heart failure later in childhood due to left-to-right shunting through the large VSD.
What is the major determinant of symptom severity in TOF?
The degree of right ventricular outflow tract obstruction.
Why does cyanosis worsen with crying or feeding in TOF?
Increased sympathetic activity leads to worsening right ventricular outflow obstruction and right-to-left shunting.
During cyanotic events, what occurs to the RV pressure, pulmonary arterial pressure, and LV pressure?
- RV pressure increases
- Pulmonary arterial pressure decreases
- LV pressure decreases
What tends to occur with the right side of the heart in patients with TOF?
Concentric right ventricular hypertrophy.
What is a ‘tet spell’ and how do patients relieve it?
Hypercyanotic episodes due to increased right-to-left shunting, relieved by squatting or knee-chest positioning to increase systemic vascular resistance and reduce shunting.
Why does squatting relieve cyanotic spells in TOF?
Increases systemic vascular resistance, decreasing right-to-left shunting through the VSD and increasing pulmonary blood flow.
How is TOF diagnosed?
Transthoracic echocardiography (TTE) is the gold standard.
What is the classic chest X-ray finding in TOF?
Boot-shaped heart due to right ventricular hypertrophy.
What is the acute management of a ‘tet spell’?
Knee-chest position, oxygen, beta-blockers (propranolol), IV fluids, and morphine.
What is the definitive treatment for TOF?
Surgical repair, usually performed between 3-6 months of age.
What medication is used in neonates with severe cyanosis to maintain ductal patency?
Alprostadil (prostaglandin E1) to keep the ductus arteriosus open and improve pulmonary blood flow.
What is the long-term prognosis after TOF repair?
Good with surgical correction, but patients require lifelong cardiology follow-up due to risks of arrhythmias and pulmonary regurgitation.
What are potential complications after TOF surgical repair?
Pulmonary regurgitation, right ventricular dysfunction, and arrhythmias such as ventricular tachycardia.
What is the most common cyanotic congenital heart defect that presents in the neonatal period?
Transposition of the Great Vessels (TGV).
What is the anatomical defect in TGV?
The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle, resulting in two parallel circulations.
What congenital heart defects are required for survival in TGV?
VSD, ASD, PFO, or PDA to allow mixing of oxygenated and deoxygenated blood.
Oxygen administration fails to improve hypoxemia because of the parallel circuitry; the oxygenated blood that is delivered to the left side of the heart is pumped back to the pulmonary circulation rather than to the aorta and systemic circulation. A mixing shunt (eg, ventricular septal defect, patent ductus arteriosus) is needed to supply oxygenated blood to the systemic circulation and allow for infant viability, but flow through the shunt is typically insufficient to cause a murmur.
What is the most significant maternal risk factor for TGV?
Maternal diabetes.
How does TGV present?
Severe cyanosis and respiratory distress within hours of birth.
How is TGV diagnosed?
Transthoracic echocardiogram (gold standard).
What is the characteristic chest X-ray finding in TGV?
Egg-on-a-string sign with a narrow mediastinum.
What is the initial medical management for TGV?
Prostaglandin E1 (Alprostadil) to maintain ductal patency.
What is the definitive treatment for TGV?
Arterial switch operation.
What is the prognosis for TGV after surgical correction?
Good with timely intervention, but lifelong cardiac monitoring is needed.
What is truncus arteriosus?
A single arterial trunk gives rise to both the aorta and pulmonary arteries, often associated with a VSD.
What genetic syndrome is associated with truncus arteriosus?
DiGeorge syndrome (22q11.2 deletion).
How does truncus arteriosus present?
Cyanosis, heart failure, and respiratory distress within the first few weeks of life.
How is truncus arteriosus diagnosed?
Transthoracic echocardiogram.
What is the treatment for truncus arteriosus?
Surgical repair within the first few weeks of life.
What is the prognosis for truncus arteriosus after surgical repair?
Good with early correction, but long-term follow-up for valve and pulmonary artery complications is needed.
What is tricuspid atresia?
Absence of the tricuspid valve, preventing direct connection between the right atrium and right ventricle.
What additional cardiac defects are present in nearly all cases of tricuspid atresia?
ASD and right ventricular hypoplasia; may also have PDA or VSD.
What is the ECG finding in tricuspid atresia?
Peaked P waves and left axis deviation due to right-sided hypoplasia.
What is the characteristic chest X-ray finding in tricuspid atresia?
Minimal pulmonary vascular markings.
How does tricuspid atresia present?
Cyanosis and a murmur within the first few days of life.
What is the medical management for tricuspid atresia?
Prostaglandin E1 to maintain ductal patency.
What is the definitive treatment for tricuspid atresia?
Surgical correction (staged procedures).
What is the prognosis for tricuspid atresia after surgical intervention?
Good with early repair but requires lifelong cardiac monitoring.
What is total anomalous pulmonary venous return (TAPVR)?
All four pulmonary veins fail to connect to the left atrium and instead drain into systemic venous circulation, mixing oxygenated and deoxygenated blood.
What are the two clinical presentations of TAPVR?
Acute (severe cyanosis in neonates) and subacute (progressive cyanosis).
How is TAPVR diagnosed?
Transthoracic echocardiogram.
What is the characteristic chest X-ray finding in TAPVR?
Snowman sign due to enlarged supracardiac veins.
What is the treatment for TAPVR?
Surgical correction.
What is the prognosis for TAPVR after surgical repair?
Good with early intervention, but requires long-term cardiac monitoring.
