congenital defects

Question 1

What are the physical exam findings that are consistent with a VSD? What about the historical features?

Answer 1

History: may be asymptomatic if small. If larger, pt will have frequent respiratory infections, dyspnea, FTT, potential heart failure symptoms
Physical: pansystolic murmur at left lower sternal border, loud pulmonic S2 (extra flow to the right heart), systolic thrill

Question 2

treatment for VSD

Answer 2

small defect: follow
large defect: ACE-I and diuretics to address fluid vol and vascular resistance; repair large defects before development of eisenmenger syndrome

Question 3

What are the physical exam findings of an ASD? History findings?

Answer 3

History: might be asymtomatic. large defects can cause cyanosis, heart failure, dyspnea, fatigue, FTT
Physical: strong impulse at lower left sternal border, wide fixed split S2, systolic ejection murmur at upper left sternal border

Question 4

What is the treatment for an ASD?

Answer 4

small defects- no repair but do need abx prophylaxis before surgery or dental work. most less than 7 mm close on their own
close surgically for symptomatic infants or when pulm blood flow is 2X that of systemic blood flow

Question 5

what are risk factors for PDA

Answer 5

-prematurity (most significant), high altituide, maternal rubella, maternal prostaglandin administration; females > males

Question 6

What are the s/sx of PDA?

Answer 6

may be asymptomatic. this is a left to right shunt. may have sx of heart failure, dyspnea, wide pulse pressure, machine murmur at second left intercostal space, loud S2, bounding pulses

Question 7

transposition of the great vessels: describe the physiology

Answer 7

2 separate circuits: aorta connected to right heart and pulmonary circulation connected to the left heart. this is a shunt dependent lesion- without at PDA or VSD, it is incompatible with life

Question 8

What are the main risk factors for transposition of the great vessels?

Answer 8

-Apert syndrome (FGF2 mutation that leads to craniosynestosis and syndactyly), trisomy 21, 13, 18, cri-du-chat syndrome (maternal diabetes?)

Question 9

H/P for transposition of the great vessels

Answer 9

cyanosis after birth that worsens after PDA closure, loud S2

Question 10

How is transposition of the great vessels treated?

Answer 10

-keep PDA open, balloon atrial septostomy to widen VSD, surgery

Question 11

what is the clinical presentation for persistent truncus arteriosus?

Answer 11

cyanosis, dyspnea, fatigue, FTT, fast development of heart failure. loud S1 and S2, bounding pulses. may see boot shaped heart, no pulmonary artery, large aorta arching to right side

Question 12

endocardial cushion defect

Answer 12

malformation of AV valves, atrial septum, and/or ventricular septum causes valvular and septal defects

Question 13

complete vs incomplete endocardial cushion defect

Answer 13

• complete defect: ASD, VSD, and single AV canal

- incomplete defect: ASD and minor AV valve abnormalities

Question 14

Major risk factor for endocardial cushion defect

Answer 14

Trisomy 21 (20% of pts)

Question 15

tetrology of fallot risk factors; presentation

Answer 15

trisomy 21, 13,18, cri du chat
presentation: early cyanosis, dyspnea, fatigue, kids squat for relief during hypoxemic episodes, systolic ejection murmur at left sternal border, RV lift, single S2

Question 16

tx of tetrology of fallot

Answer 16

prostaglandin E, O2, propranolol, IV fluids, morphine, surgery

Question 17

What is still’s murmur?

Answer 17

inferior left lower sternal border, systolic, vibratory/musical quality

Question 18

What is a venous hum?

Answer 18

infraclavicular throughout the cardiac cycle; diminishes with head turn or jugular vein palpation

Question 19

pulmonary flow murmur/ peripheral pulmonic stenosis

Answer 19

benign positional murmur, high pitched, heard at left upper sternal border, often radiates to the back in infants