Cause:Congenital malformations
Pathophys:
Primum: AV canal defects including low ASD, high VSD, cleft mitral and/or tricuspid valves or even a common AV valve
Secundum:mid or upper ASD allows left-to-right shunt; many are functional patent foramen ovales, ie, only open if sudden incr in right-sided pressures
Primum: 1-2% of all CHD; most common type of CHD in Down Syndrome (25%)
Secundum: 10-15% of all CHD; associated w anomalous pulmonary venous return
Sx:
Primum: dyspnea, fatigue, pulmonary infections, and CHF in infancy in complete form, later in incomplete types
Secundum: rarely any in infancy or childhood; later dyspnea w CHF and pulmonary HT, palpitations if arrhythmias
Si:
Primum: cyanosis mild or absent. Harsh systolic murmur, apical, pansystolic from MR (33%), TI or VSD (75%). P2 increased; splitting present; CHF; RVH
Secundum: mild systolic murmur (pulmonic) at upper left sternal border; mid-diastolic rumble at lower left sternal border from high flow. S2 wide and fixed; RVH
Primum: complete types cause CHF in infancy and death in q1-2yr if not repaired; incomplete types get sx later, but survive less well than secundum types
Secundum: occasionally CHF sx in 2nd-3rd decade; or may be asx throughout adult life, but overall decr in life expectancy
Primum: CHF, pulmonary hypertension, supraventricular arrhythmias (Aflut or Afib) especially if surgically closed after age 40 yr (Nejm 1999;340:839), SBE rarely, increased incidence of rheumatic fever; r/o partial anomalous pulmonary venous return
Secundum: CHF and pulmonary HT late; strokes, multiple in patent foramen oval pts, esp if divers (Ann IM 2001;134:21)
Lab: Noninv:Primum: EKG: left axis, pRBBB, R and LVH, counterclockwise rotation
Secundum: EKG axis normal or RAD, partial and full RBBB, RVH and strain; clockwise rotation.
Echo:diagnostically abnormal in 90% (Ann IM 1976;84:246) w doppler, in 100% w TEE
Xray:
Primum: chest shows small aortic knob; RVH and increased pulmonary flow. If MR, then large LA and LV. Angiography shows "Gooseneck deformity" of LV outflow tract; serated mitral valve leaf; rest depends on particular variant
Secundum: chest shows small aortic knob; RHV + increased pulmonary flow; no LA enlargement unlike patent ductus or VSD.
Rx:
Primum: surgical early if sx; can't if fixed pulmonary hypertension. Open repair or pulmonary artery banding in infants with severe sx. Operative mortality: 40% if complete, 15% if partial. Do it at age 5+ yr ideally; cmplc: complete heart block.
Secundum: open repair with bypass at age 5+ yr if shunt >1.5 ratio, 95+% 10-yr survival even in adults >40-yr age (Nejm 1995;333:469); can't if significant right-to-left shunt. Operative mortality = 1-5%, 50% if right-to-left shunt, 15-20% if CHF or pulmonary HT; cmplc: return of shunt, and can never be sure it isn't anomalous pulmonary veins or sinus venosum. In adults w small patent foramen ovale, warfarin may be a reasonable alternative to surgery
of patent foramen ovale: after stroke, anticoagulate w ASA or warfarin, and cath or surgically close only if recurs on that therapy (Nejm 2005;353:2361); repair, if asx may incr stroke risk? (Jama 2009;302:290)