Congenital Heart Disease Flashcards
What are the stages of human heart embryology?
- Cardiac crescent
- Linear heart tube
- Looping heart
- Chamber formation
By ___, two cardiac cords form and become canalized
3 weeks
What is the cardiac tube slouch?
- Fetal development
- Cardiac tube elongates and loops as an “S”
- Bulboventricular portion moves right
- Atrium and sinus venosus move posterior to ventricle
What is the primitive atrium first divided by?
Septum primum membrane
In fetal development, left and right ventricles develop:
Side by side
How does the bulbocordis divide?
- Subaortic portion (as muscular conus resorbs)
- Subpulmonary section (elongation of its muscular conus)
What does the spiral division of the common truncus arteriosus rotate and align?
- Aortic valve posterior over LV outflow tract
- Pulm valve anterior over RV outflow tract
How does the AV canal form?
- Endocardial cushions develop in dorsal and ventral walls of the heart in the AV canal region
- Grow toward each other and fuse, dividing AV canal into R and L orifices
In fetal development, how are the venous systems initially?
- Bilateral and symmetric
- Enter 2 horns of sinus venosus
Truncus arteriosus and aortic sac initially develop:
6 paired symmetric arches which curve posteriorly and become paired dorsal aortae
How and when do vascular rings and slings present?
- Infancy
- Stridor, wheeze, croupy cough
- Usually worse in supine position
- More severe with double aortic arch
What do vascular rings arise from?
- Double aortic arch
- Right aortic arch w/left ligamentum arteriosum
- Patent ductus arteriosus
What is a vascular sling?
Left PA branches off right PA
How are vascular rings and slings diagnosed?
Barium swallow (showing esophageal compression)
How are vascular rings and slings treated?
Surgically corrected
What are the types of simple adult congenital heart disease?
- Native disease
- Repaired conditions
What are the main examples of intermediate complexity adult congenital heart disease?
- ASD
- AV canal defects
- Coarctation of aorta
- Patent ductus arteriosus
What are the main examples of complex adult congenital heart disease?
- Tetralogy of Fallot
- Transposition of great arteries
- Truncus arteriosus
What is the Still’s murmur and what congenital disease does it indicate?
- Vibratory, left midsternal border
- VSD, subaortic stenosis, subpulmonic stenosis
What is a venous hum and what congenital disease does it indicate?
- Continuous murmur at neck and under clavicles
- Loudest when sitting
- PDA, coronary AV malformation
What are the types of ASD?
- Sinus venosus
- Ostium primum
- Ostium secundum
What is a sinus venosus ASD?
- High in atrial septum near SVC
- A/w anomalous PV connection from R lung to SVC or RA
What is ostium primum ASD?
- Adjacent to AV valves which may be deformed/regurgitant
- Common in Down syndrome
What is ostium secundum ASD?
-Involves fossa ovalis and is midseptal (as opposed to PFO)
How does ASD affect heart physiology in adults?
- L to R shunt
- Creates diastolic overloading of RV, increased pulm blood flow
What determines the magnitude of L-R shunt in adult ASD?
- ASD size
- Ventricular diastolic properties
- Impedance in pulm and systemic circulations
What are the S/S of ASD in adults?
- Usually asymp in early life
- Past the 4th decade of life: atrial arrhythmias, PA HTN, bidirectional and then RL shunt of blood, R heart failure
What does ASD show on physical exam?
- Prominent RV impulse and palpable PA pulsation
- S1 normal or split
- S2 widely split and relatively fixed
- Mid diastolic rumbling murmur
What does an ostium secundum ASD show on EKG?
- R axis deviation
- rSr’ pattern in right precordial leads
How does an ASD look on CXR?
- Enlarged RA, RV, PA
- Increased pulm vascular markings of LR shunt
What is the surgical treatment of ASD?
- Patch of pericardium or prosthetic material
- Percutaneous transcatheter device closure
What is the medical management of ASD?
- Prompt tx of resp. tract infections
- Antiarrhythmics for AF or SVT
- Tx of HTN, CAD, CHF
What is the MC of all cardiac birth defects?
Ventricular septal defect (VSD) either as an isolated defect or component of a combo of anomalies
How does VSD present in adults?
- Depends on size and status of pulm vascular bed
- Only small to moderate size are first seen in adults
- Most w/isolated large VSD come to medical attention early in life
When is spontaneous closure of a VSD more common?
In patients born with a small VSD
What determines the clinical manifestations and feasibility of repair in VSD?
Status of pulmonary vascular bed
What is Eisenmenger’s syndrome?
- Large communication b/w 2 circulations at aortopulm, ventricular, or atrial levels
- Bidirectional or RL shunts bc of high resistance and obstructive pulm HTN
When should large VSDs be corrected?
Early in life when pulm vascular disease is still reversible or not yet developed
What are the symptoms in adults with Eisenmenger’s syndrome?
- DOE
- Chest pain
- Syncope
- Hemoptysis
What predicts a good surgical outcome in Eisenmenger syndrome?
Pulm vasc resistance less than 1/3 of systemic
How does a resolving VSD present on physical exam?
Asymp murmur may not develop until 1st few months of life as VSD constricts and then disappears
How does a restrictive VSD present on physical exam?
Holosystolic murmur with normal S2
How does a muscular VSD present on physical exam?
Short systolic not extending to S2 (small defect closes as muscle contracts)
Surgery is NOT recommended for which patients with VSD?
Normal PA pressures with small shunts
*Pulm to systemic flow ratios of less than 1.5:1 to 2:1
Surgery is indicated in VSD with pulm to systemic flow ratios of:
greater than 1.5:1 or 2:1
Which congenital heart defect is pregnancy not recommended?
VSD - puts both mother and fetus at risk
Why are oral contraceptives often contraindicated in cyanotic women with VSD?
Enhanced risk of vascular thrombosis
Describe patent ductus arteriosus
- Ductus arteriosus is a vessel leading from bifur of PA to aorta
- Normally it is open in fetus but closes immediately after birth
- PDA is when it remains open
How does PDA present in most adults?
- Pulm pressures normal
- A gradient and shunt from aorta to PA persists through cardiac cycle
- Characteristic thrill and continuous “machinery” murmur
What are the leading causes of death in adults with PDA?
- Cardiac failure
- Infective endocarditis
- Pulm vascular obstruction
When is closure recommended for adults with PDA?
Without severe pulm vascular disease and RL shunt
Describe congenital aneurysm of aortic sinus of Valsalva with fistula
- Separation or lack of fusion b/w media of aorta and annulus of aortic valve
- Rupture usually occurs 3-4th decades of life
What is the MC fistula rupture in congenital aneurysm of aortic sinus of Valsalva?
Fistula between R coronary cusp and R ventricle
What is a coronary ateriovenous fistula?
- Communication between a coronary artery and another cardiac chamber
- Shunt is usually small and myocardial BF NOT compromised
What commonly occurs within the first year of anomalous origin of LCA from PA?
MI and fibrosis leading to death
How is an anomalous origin of LCA from PA corrected surgically?
CABG
How do bicuspid aortic valves present?
- Not always detectable
- Harsh systolic murmur
- Males
- Stenosis or regurge with time
- Dilation of ascending aorta over time
What is supravalvular aortic stenosis?
- Narrowing of ascending aorta just above level of coronaries
- Coronary arteries subjected to elevated systolic pressures
How is a supravalvular aortic stenosis caused?
-Most have genetic defect (chromosome 7)
What is Williams-Beuren syndrome?
- A/w supravalvular aortic stenosis
- “Elfin” facies, low nasal bridge
- Mental retardation w/retained language skills
What is coarctation of aorta?
- Narrowing of aortic lumen, MC distal to origin of L subclavian artery
- MC males
- Turner’s syndrome pts
What is the main determinant of clinical course and symptoms in pulmonary stenosis?
Severity of obstructing lesion (NOT site)
Describe Tetralogy of Fallot
- Malaligned VSD
- RV outflow obstruction
- Overriding aortic (over VSD)
- RVH
What determines the clinical presentation of Tetralogy of Fallot?
Severity of RV outflow obstruction
What is a Tet Spell?
Children with Tetralogy of Fallot exhibit bluish skin during episodes of crying or feeding
How do you treat a Tet Spell?
- Increase SVR
- Increase R filling pressure
- Reduce catecholamine release
- Supplemental O2
What shows on CXR with Tetralogy of Fallot?
“Boot shaped” heart due to RV hypertrophy
What is the MC cause of reoperation in adults with Tetralogy of Fallot?
Severe pulm regurge
Describe complete transposition of great arteries
- Dextro-transposition
- Aorta rises R anteriorly from RV
- PA emerges L posteriorly from LV
- MC in males
What does complete transposition of arteries result in?
2 separate parallel circulations
How is the clinical course determined in complete transposition of great arteries?
- Degree of tissue hypoxemia
- Ability of each ventricle to sustain an increased workload w/reduced coronary arterial oxygenation
- Associated CV anomalies
- Status of pulm vasc bed
How is intra-atrial switch repaired?
Mustard operation (rearranging venous returns)
What is the Mustard operation?
- Intra-atrial switch
- Rearranging venous returns
What is the Jantene procedure?
- Arterial switch
- Transpose both coronaries to PA
- Transect, contrapose, anastomose aorta and PA
What is the Rastelli procedure?
- VSD w/severely obstructed LV outflow tract
- PA is replaced
What is total anomalous venous return?
Oxygenated blood returning from lungs is routed back into SVC rather than LA
*ASD must be present for this to happen
What must be present for a total anomalous venous return to occur?
ASD
What is tricuspid atresia and its associated lesions?
- Absence of tricuspid valve
- Interatrial communication
- Hypoplasia of RV and PA
What is the Fontan procedure?
- To treat tricuspid atresia
- Direct RA to PA anastomosis
What is Ebstein’s anomaly?
- Downward displacement of tricuspid valve into RV
- Anomalous attachment of tricuspid leaflets
- Tricuspid regurge
- RV often hypoplastic
What is situs inversus totalis?
Reversal of organs (CXR looks backwards)
What is Kartagener’s syndrome?
- Autosomal recessive
- Abnormal ciliary motion
- Impaired clearance
- Situs inversus
How does Kartagener’s syndrome present?
- Complete situs inversus
- Chronic sinusitis
- Bronchiectasis
- Telecanthus (widened interpupillary distance)
What is dextrocardia?
Cardiac apex positioned to R side of chest
What is mesocardia?
Cardiac apex positioned in midline of chest
What is isolated levocardia?
Cardiac apex positioned on L side of chest but abnormal position of viscera
What is ectopia cordis?
- Rare congenital defect
- Herniation of the heart through sternal, pericardial and/or abdoinal defect
- Most don’t survive
What is Pentalogy of Cantrell?
- Defects in diaphragm
- Midline supra-umbilical abdominal wall defect
- Pericardium hear
- Lower sternum
- Congenital intracardiac abnormalities
* A/w ectopia cordis
What is the only surgical repair of a congenital defect that doesn’t usually leave behind some abnormality?
Ligation of an uncomplicated PDA
What do cardiac operations involving the atria typically cause later in life?
Sinus or AV node dysfunction Atrial arrhythmias (esp. A flutter)
