Flashcards in Cardio - Path (Part 1: Congenital Heart Disease) Deck (58):
What is the hallmark of right-to-left shunts versus left-to-right shunts?
RIGHT-TO-LEFT SHUNTS: Early cyanosis ("blue babies"); LEFT-TO-RIGHT SHUNTS: Late cyanosis ("blue kids")
What are 5 prime examples of right-to-left shunts?
(1) Tetralogy of Fallot (2) Transposition of great vessels (3) Persistent truncus arteriosus (4) Tricuspid atresia (5) Total anomalous pulmonary venous return (TAPVR); Think: "5 T's: Tetralogy, Transposition, Truncus, Tricuspid, TAPVR"
What is the most common cause of early cyanosis?
Tetralogy of Fallot
What is a persistent truncus arteriosus? What other defect usually accompanies it?
Failure of truncus arteriosus to divide into pulmonary trunk and aorta; Most patients have accompanying VSD
What characterizes Tricuspid atresia? What is required for it to be viable?
Characterized by absence of tricuspid valve & hypoplastic RV; Requires both ASD and VSD for viability
What is TAPVR?
Total anomalous pulmonary venous return (TAPVR) = pulmonary veins drain into right heart circulation (SVC, coronary sinus, etc.)
With what is TAPVR associated? What is the basis of this association?
Associated with ASD and sometimes PDA to allow for right-to-left shunting to maintain CO
What are prime examples of left-to-right shunts? Where applicable, list them in order of decreasing frequency.
VSD > ASD > PDA; Also Eisenmenger syndrome
What is the most common congenital cardiac anomaly?
What is an ASD? What are the heart sounds associated with it?
Defect in interatrial septum; Loud S1; wide, fixed S2
What drug is used to close a PDA?
What is Eisenmenger's syndrome? Include its etiology and progression.
Uncorrected VSD, ASD, or PDA causes compensatory pulmonary vascular hypertrophy, which results in progressive pulmonary hypertension. As pulmonary resistance increases, the shunt REVERSES from left-to-right TO RIGHT-TO-LaTE
What are the signs/symptoms associated with Eisenmenger's syndrome?
(1) Cyanosis (2) Clubbing (3) Polycythemia
What is the primary cause of Tetralogy of Fallot? What are its 4 classic features?
Anterosuperior displacement of the infundibular septum. (1) Pulmonary infundibular stenosis (2) Right ventricular hypertrophy (3) Overriding aorta (3) VSD
What is the most important determinant for prognosis of Tetralogy of Fallot?
Pulmonary infundibular stenosis
To which other classic feature of Tetralogy of Fallot does overriding aorta relate, and how?
Overriding aorta overrides the VSD
What are "tet spells"? What causes them?
Early cyanosis seen in Tetralogy of Fallot, caused by pulmonary stenosis forcing right-to-left flow across VSD
How does the VSD in Tetralogy of Fallot differ from isolated VSDs?
Isolated VSDs usually flow left to right (acyanotic). In tetralogy, pulmonary stenosis forces right-to-left (cyanotic) flow & causes RVH (on x-ray, boot-shaped heart)
What is seen on X-ray in Tetralogy of Fallot?
RVH --> boot-shaped heart
What have older Tetralogy of Fallot patients historically learned to do, and why?
Older patients historically learned to squat to relieve cyanotic symptoms; Squatting reduced blood flow to legs, increased systemic vascular resistance (SVR), and thus decreased the cyanotic right-to-left shunt across the VSD. Improves cyanosis.
What is the preferred treatment for Tetralogy of Fallot?
Early, primary surgical correction
What defines D-transposition of the great vessels?
Aorta leaves RV (anterior) and pulmonary trunk leaves LV (posterior) --> separation of systemic and pulmonary circulations.
What is important to know about the vitality of D-transposition of the great vessels?
Not compatible with life unless a shunt is present to allow adequate mixing of blood (e.g., VSD, PDA, or patent foramen ovale)
What causes D-transposition of the great vessels?
Due to failure of aorticopulmonary septum to spiral
What is the recommended intervention for D-transposition of the great vessels? What happens without this intervention?
Surgical correction; Without surgical correction, most infants die within first few months of life
What are the different types of coarctation of the aorta? Name and define them.
(1) Infantile type: aortic narrowing proximal to insertion of ductus arteriosus (preductal) (2) Adult type: aortic narrowing distal to ligamentum arteriosum (postductal); Think: "Infantile = In close to the heart, aDult = Distal to Ductus"
With what is the infantile type of coarctation of the aorta associated?
Associated with Turner syndrome
With what 3 effects is the adult type of coarctation of the aorta associated?
Associated with notching of the ribs (due to collateral circulation), hypertension in upper extremities, & weak, delayed pulses in lower extremities (radiofemoral delay)
What is the normal shunt for ductus arteriosus during fetal period? What happens to the shunt during neonatal period, and why? What effects does this have?
Right to left; Lung resistance decreases & shunt becomes left to right, with subsequent RVH &/or LVH and failure (abnormal)
With what kind of heart sound is patent ductus arteriosus associated?
Associated with a continuous, "machine-like" murmur
What maintains patency of ductus arteriosus?
PGE synthesis & low O2 tension
What result can uncorrected PDA eventually have?
Late cyanosis in lower extremities (differential cyanosis)
What closes PDA? What keeps PDA open? What is a good way to remember this?
Indomethacin; PGE; ENDomethacin ENDs patency of PDA & pgE kEEps it open
In what situation might PGE be necessary to sustain life, and why?
E.g., Transposition of the great vessels; Keeps PDA open
When is PDA normal? When does it close?
Normal in utero; Closes only after birth
Explain the 2 key pathological states of PDA, including there etiologies and effects.
(1) In the neonatal period, lung resistance decreases and shunt becomes left-to-right. If untreated, shunt may lead to RVH, LVH, and rarely heart failure (2) Uncorrected PDA with chronic overload of pulmonary vasculature can eventually result in pulmonary hypertension and shunt reversal (Eisenmenger syndrome), manifesting as cyanosis and clubbing in lower extremities (differential cyanosis)
With what congenital cardiac defects are 22q11 syndromes associated?
Truncus arteriosus, Tetralogy of Fallot
With what congenital cardiac defects is Down syndrome associated?
ASD, VSD, AV septal defect (endocardial cushion defect)
With what congenital cardiac defects is Congenital rubella associated?
Septal defects, PDA, pulmonary artery stenosis
With what congenital cardiac defects is Turner syndrome associated?
Bicuspid aortic valve, Coarctation of the aorta (preductal)
With what congenital cardiac defects is Marfan's syndrome associated?
MVP, Thoracic aortic aneursym and dissection, Aortic regurgitation
What congenital cardiac defect(s) would you be concerned about for the infant of a diabetic mother?
Transposition of great vessels
What disorder(s) is/are associated with the following congenital cardiac defects: Truncus arteriosus, tetralogy of Fallot?
What disorder(s) is/are associated with the following congenital cardiac defects: ASD, VSD, AV septal defect (endocardial cushion defect)?
What disorder(s) is/are associated with the following congenital cardiac defects: Septal defects, PDA, pulmonary artery stenosis?
With what disorder(s) are bicuspid aortic valve and coarctation of aorta (preductal) associated?
Turner syndrome (XO)
With what disorder(s) are MVP, thoracic aortic aneurysm and dissection, and aortic regurgitation associated?
With what disorder(s) is transposition of the great vessels associated?
Infant of a diabetic mother
When are right-to-left shunts often diagnosed?
Often diagnosed prenatally or become evident immediately after birth
What intervention(s) is (are) usually required for right-to-left shunts?
Usually require urgent surgical correction and/or maintenance of a PDA
Which congenital heart disease is associated with right ventricular hypertrophy? How does this appear on CXR?
Tetralogy of Fallot - (1) Pulmonary infundibular stenosis (2) RVH (3) Overriding aorta (4) VSD; RVH - boot-shaped hear on CXR
Describe the most common presentation of ventricular septal defect.
Asymptomatic at birth, may manifest weeks later or remain asymptomatic throughout life.
What is the most common outcome of a VSD? What are possible complications, and in what context do they occur?
Most self resolve; larger lesions may lead to LV overload and heart failure
With what clinical context are septum primum versus secondum defects associated?
ASD usually occurs in septum secundum; Septum primum defects usually occur with other anomalies
What is the range of symptoms in patients with ASD?
Symptoms range from none to heart failure
How is ASD distinct from patent foramen ovale?
Distinct from patent foramen ovale in that septa are missing tissue rather than unfused
With what heart defect(s) is (are) coarctation of the aorta associated?
Associated with bicuspid aortic valve, other heart defects