Congenital heart conditions Flashcards
Congenital heart condition associated with single gene mutations
Tetralogy of Fallot
Congenital heart defect associated with down syndrome
Common AV canal –> large primum ASD, VSD, and common AV valve
Congenital heart defects associated with Turner syndrome
Bicuspid aortic valve
Coarctation of the aorta
Congenital heart defect associated with Williams syndrome
Supravalvular AS
Congenital heart defects associated with DiGeorge syndrome
Congenital abnormalities of the cardiac outflow tract –> tetralogy of Fallot, truncus arteriosus
Characteristics of Williams syndrome
Mental retardation
Hypercalcemia
Short stature
Facial abnormalities
HTN
Features of DiGeorge syndrome
Cardiac abnormalities
Abnormal facial appearance
Thymic aplasia
Cleft palate
Hypocalcemia
Pathogenesis of DiGeorge syndrome
Deletion in chromosome 22 affecting TBX1 transcriptional factor causes abnormal development of 4th pharyngeal arch, and 3rd-4th pharyngeal pouches
Congenital heart defects associated with poorly controlled GDM
Transposition of great vessels
VSD
Congenital heart defects associated with alcohol intake in pregnancy
PV stenosis
VSD
Congenital heart defects associated with maternal rubella infection during gestation
PDA
PV stenosis
Congenital heart defect associated with maternal lithium use
Ebstein anomaly
Complications of L to R shunts
Volume overload in R heart
Pulmonary HTN
LV hypertrophy
Shunt reversal
Types of R to L shunts
Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia
Persistent truncus arteriosus
Total anomalous pulmonary venous return
Clinical signs of R to L shunt
Hypoxemia
Cyanosis
Hypertrophic osteoarthropathy
Polycythemia
Complications of R to L shunt
Secondary polycythemia
Digital clubbing
Increased risk of infective endocarditis before or after corrective surgery
Metastatic abscesses
Cyanosis
Most common ASD in down syndrome
Of ostium primum
Most common type of ASD
Of septum secundum
Clinical findings in adults with ASD
RV heave
Widened, fixed S2
Systolic murmur at upper-left sternal border
Decreased stamina and palpitations due to atrial tachyarrhythmias resulting from RA enlargement
Conditions when PFO becomes clinically significant
Pulmonary HTN
RHF
Risk factor with PFO
Paradoxical embolism
Congenital diseases associated with VSD
Cri du chat syndrome
Fetal alcohol syndrome
Early symptoms of HF in infants with large VSD
Tachypnea
Poor feeding
Failure to thrive
Frequent lower respiratory infections
Harsh holosystolic murmur best heard at the L sternal border. Mid-diastolic rumbling murmur can be heard at the apex.
VSD
Reasons for closure of ductus arteriosus after birth
Increased arterial oxygenation
Decreased pulmonary vascular resistance
Declining levels of prostaglandin E2
Reasons for delayed or absent closure of ductus arteriosus
Hypoxia - respiratory distress or heart disease
When associated with other congenital defects
Medication used to close PDA
Indomethacin
Adult remnant of ductus arteriosus
Ligamentum arteriosum
Eisenmenger syndrome
Reversal of a L to R shunt
Results from anterosuperior displacement of the infundibular septum
Tetralogy of Fallot
Four cardinal features of Tetralogy of Fallot
Pulmonary infundibular stenosis
RV hypertrophy
Overriding aorta
VSD
Reason for RV hypertrophy in tetralogy of Fallot
Due to high pressure load placed on RV by pulmonary stenosis
Manifestations of Tet spells
Irritability
Cyanosis
Hyperventilation
Occasionally syncope or convulsions
Reason for Tet spells
Systemic vasodilation results in an increased R to L shunt in tetralogy of Fallot
S2 in tetralogy of Fallot
Single, no split
Murmur in tetralogy of Fallot
Systolic ejection murmur heard best at the upper L sternal border
CXR findings in tetralogy of Fallot
Prominent RV and decreased size of main pulmonary A segment –> boot shaped heart
ECG findings in tetralogy of Fallot
RV hypertrophy with R axis deviation
Surgical treatment of transposition of great vessels
Creation of interatrial communication using balloon catheter
Common trunk for aorta, pulmonary A, and coronary arteries. Associated with VSD.
Persistent truncus arteriosus
Downward displacement of an abnormal tricuspid valve into an underdeveloped RV. Divides RV into atrialized dilated portion and functional reduced portion.
Ebstein anomaly
Tubular hypoplasia of the aortic arch proximal to PDA
Infantile form of coarctation of the aorta
Discrete ridge-like infolding of the aorta just opposite to the ligamentum arteriosum distal to the arch vessels
Adult form of coarctation of the aorta
Compensatory alterations in uncorrected coarctation of the aorta
LV hypertrophy
Dilation of collaterals from intercostal arteries
When will systolic BP in the R arm is greater than the L arm
Coarctation of aorta proximal to branching of L subclavian A
Murmur of aortic coarctation
Midsystolic ejection murmur, may be audible over chest and/or back
CXR findings in aortic coarctation
Notching of inferior surface of ribs
Possible complications proximal to aortic coarctation
Increased UE SBP
Dilation of aortic root and dissection
Increased risk for developing berry aneurysms –> increased cerebral blood flow
Possible complications distal to aortic coarctation
Decreased in SBP and pulse amplitude in LE
Leg claudication
HTN –> activation of RAAS
Collateral circulation
Group of heart defects characterized by involvement of the atrial septum, ventricular septum, and 1 or both of the AV valves
Endocardial cushion defects
