Timing for medical, surgical, and interventional therapy of unrepaired complete AV canal defects with Eisenmenger physiology
Complete AV canal defects have both atrial and ventricular septal defects. Characterized by a primum ASD that is contiguous with a posterior VSD and a common AV valve.
Surgical: Heart and lung transplantation or lung transplantation with intracardiac repair are treatment options in Eisenmenger patients. Transplantation should be reserved for severely symptomatic patients, since overall survival with medical management is usually quite good even in patients with severe pulmonary arterial disease
Williams Syndrome
Childlike facies, peripheral pulmonary stenosis, hypercalcemia, familial dyslipidemias
Mutation in the elastin gene
Cardiac associations : supravalvular stenosis, coarctation of the thoracic or abdominal aorta and renal artery stenosis
Holt-Oram Syndrome
Heart and hand syndrome
Autosomal dominant mutation in TBX5
- Conduction system abnormalities
- Association with Secundum ASD
Secundum ASD
- Absence of tissue in the fossa ovalis
- RA and RV enlargement
- RV heave, Ejection murmur in the PA, Fixed split 2nd sound, may get tricuspid diastolic flow rumble
Pulse oximetry with ASD
Measure at rest and exercise to evaluate unrepaired ASD to determine direction and magnitude of shunt.
Closure of ASD
RA and RV Enlargement w symptoms (Class 1) without symptoms (Class 2)
- As long as no evidence of pulmonary vascular disease. (PASP <50% systemic, PVR <1/3 SVR; no R to L shunt on pulse ox)
- Sinus or Primum ASD needs surgical closure
Sinus Venosus ASD
- Posterior to the fossa ovalis
- Usually associated with anomalous right upper pulmonary vein
- Right sided enlargement
RV volume overload and no ASD think?
Anomalous pulmonary veins. Get MRI or TEE to identify the shunt.
Primum ASD (Partial A-V canal defect)
Inferior portion of the septum
- Mitral valve is usually cleft
- Often associated with Down’s Syndrome
Noonan’s Syndrome
Short stature, webbed neck, wide spaced eyes
- Autosomal Dominant
- Associated with pulmonary stenosis
Turner Syndrome
Web neck, wide spaced eyes, low set ears
- Association with coarctation of the aorta
Ebstein’s Anomaly
Inferior displacement of the tricuspid valve
- 50% have secundum ASD or PFO
- 25% have accessory pathway
Differential Cyanosis
- Pink fingers and blue toes seen with PDA
Erythrocytosis with Eisenmenger’s
Inf Hb <= 20 or Hct <= 65, no phlebotomy
Pulmonary valve replacement in TOF
- Mild or greater RV or LV dysfunction
- Severe RV dilation: RVEDVi >=160 ml/m2; RVESVi >= 80 ml/m2
- RVEDV >= 2x LVEDV
- RVSP >= 2/3 systemic pressure
- Progressive decrease in exercise capacity
Tetralogy of Fallot
- Pulmonic stenosis
- VSD
- Stenotic RVOT
- Associated with DiGeorge Syndrome
DiGeorge Syndrome
- Truncus arteriosus/ conotruncal defects/ TOF, hypoparathyroidism, Thymus dysfunction, Cleft palate, small low-set ears, short width of eye openings, hooded eyes, long fase
- 22q 11 deletion
- Autosomal dominant
- Associated with TOF
Glenn Shunt
SVC to R Pulmonary artery
Bidirectional Glenn: SVC into both PAs
Blalock-Taussig Shunt
Subclavian vein connected to pulmonary artery.
Work up for neurological deficiency in patient with shunt
Scan head and rule out iron deficiency
Transposition D vs L
D-loop: RV on R
L-loop: RV on L
Aorta follows the loop
d-TGA - aorta anterior and to the R
L-TGA - aorta anterior and to the L
D-transposition after Mustard: think RV failure and tricuspid regurgitation
L-transposition: Monitor for heart block, systemic AV regurgitation (TR) and heart failure
Marfan Syndrome
FBN1 mutation
- Connective tissue protein fibrillin-1
- Aortic root dilation, lens dislocation, wrist/ thumb sign
Complete AV septal defects
- Cleft in the anterior leaflet of the left AV valve
- Lateral rotation fo LV papillary muscles
- Attachment of the left and right AV valves at the same level at the cardiac crux
- Due to the absence of the AV septum, the LV inflow is shortened and the LV outflow is elongated (“goose-neck deformity”) creating a ratio of LV inlet to LV outlet <1.
- Due to the presence of a common AV valve, the aortic valve is no longer “wedged” between the tricuspid and mitral valves and is pushed anteriorly (“sprung”)
Most common acquired characteristic from a sub pulmonary (supracristal) VSD?
Aortic insufficiency
