Pulmonary Atresia With

Ventricular Septal Defect

Dr. Luu Lam Thang Tai

Deparment of pediatrics, City children’s hospital
Orcid: 000-0003-1062-2463
Contents

• Definition
• Incidence and factors associated with PA-VSD
• Pulmonary arteries and MAPCAs embryology → Classification
• Clinical presentation
• Diagnosis
• Overview management + Complications + Prognosis
Definition
• Tetralogy of Fallot is a congenital cardiac malformation characterized
by underdevelopment of the right ventricular infundibulum, with
anterior and leftward displacement of the infundibular (conal, outlet)
septum and its parietal extension
• Tetralogy of Fallot with absent pulmonary valve is a subset of
Tetralogy of Fallot in which the pathologic and clinical states are
determined largely by the vestigial, severely hypoplastic,
nonfunctioning pulmonary valve cusps at the RV–pulmonary trunk
junction.
Incidence
• 0.7 per 10,000 live births
• 20% TOF cases
(Baltimore-Washington Infant Study 1981 – 1989)

Egbe, A., Uppu, S., Lee, S., Ho, D., & Srivastava, S. (2014). Changing Prevalence of Severe Congenital Heart Disease: A Population-Based Study.
Pediatric Cardiology, 35(7), 1232–1238. doi:10.1007/s00246-014-0921-7
Factors associated with TOF/PA
• Environmental factors: Maternal diabetes, maternal phenylketonuria
(PKU), and maternal exposure to retinoic acids.
• Genetics:
+ 22q11.2 loci (10-33%) – Deletions of chromosome 22q11.2 are
associated with conotruncal defects including TOF/PA due to
involvement of three genes identified in this locus: TBX1, CRKL, and
ERK2.
+ 1q21.1 duplications (1%).
+ Duplication of 9p13 and deletion of 9q34.3.
+ Interstitial deletion of 16q21-q22.1.
Embryology
• Normal embryology
Embryology
Embryology
• MAPCAs characteristics:
(a) Vessel of origin
(b) Communication with
pulmonary arteries
(c) Size and impact of
stenosis.
Pulmonary arteries development
• McGoon: 1.2, 1.5
• Nakata index:
150mm2/m2,
330±30mm2/m2
• Total neopulmonary
index: 100
Classification
Clinical presentation
• Is it always true ?
Clinical presentation
• The range of symptoms and clinical manifestations vary and are
dependent on the ratio of pulmonary blood flow to systemic blood
flow (Qp to Qs ratio).
• Depend on pulmonary blood flow: Cyanosis → Heart failure
Diagnosis
• Fetal diagnosis: 18-22 weeks gestation
(can be reasonably assessed as early as 10 weeks of gestation, but is much better after 12+3 weeks,
some fetal cardiac conditions may not be detected until 18 to 22 weeks of gestation).
Diagnosis
• Diagnosis: Echocardiography ± CTA ± Angiography
• Echocardiography:
+ Anterior malaligned ventricular septal defect (VSD)
+ Overriding aortic valve
+ PA with absence of blood flow from the right ventricle (RV) to the
pulmonary artery
+ MAPCAs are detected by their characteristic continuous flow pattern
on color-flow Doppler mapping; however, smaller collateral arteries and
branch pulmonary arteries may not be detected
Diagnosis
• MAPCAs or something else ?
+ Patent Ductus Arteriosus (Branching ?)
+ Hemitruncus (Ascending or descending ?)
+ Hypertrophied Bronchial Artery (Trachea and bronchial tree ?)
+ Type B Malinosculation (Cardiac anamoly ?)
+ Acquired Collateral Arteries (after surgery, Angiography + CTA)
+ Venovenous Collaterals (after bidirectional Glenn shunt, Hounsfield
unit in CTA).
Management
• Initial medical treatment: depend on clinical presentation:
PGE1, stenning (low oxygen saturation) to ACEI, diuretics,
catheterization (heart failure)
• Surgical intervention
Steps:
1. Unifocalization,
2. Reconstruction of the RV outflow tract (RVOT)
3. VSD closure (PAPm < 25mmHg, pulmonary blood flow of 2.5
L/min/m2, Qp:Qs greater than 1.5 or 0.8 depend on PBF source)
→ Depend on blood flow of MAPCAs/Native PA
Management
• For patients with large-caliber MAPCAs without significant segmental-level
stenosis, a single-stage repair is generally performed.
• For patients with small- to moderate-caliber MAPCAs without significant
segmental-level stenosis, unifocalization procedure and creation of a shunt
between the central aorta and a neopulmonary artery are initially performed.
The aortopulmonary shunt promotes pulmonary arterial growth. Intracardiac
repair with VSD closure and RVOT reconstruction is performed at a later date,
pending reevaluation of the pulmonary vascular bed by catheterization.
Management
• For patients have dual pulmonary blood supply with true, small-caliber
pulmonary arteries that are confluent and arborize to all segments as well as
multiple small collaterals that are connected peripherally into the true
pulmonary arterial system. Because the collateral vessels are small in caliber,
there is little material for unifocalization. In this setting, an initial palliative
procedure, an aortopulmonary window (end-to-side anastomosis of the small
main pulmonary trunk to the ascending aorta), is performed in the neonatal
period in order to stimulate native pulmonary artery growth. The patient
undergoes cardiac catheterization three to six months postoperatively to evaluate
whether there has been suitable pulmonary artery growth to undergo
unifocalization.
Management
• For patients with extensive segmental-level stenoses, multiple-stage
unifocalization procedures are required. For each unifocalization, a modified
Blalock-Thomas-Taussig shunt (also commonly called a modified Blalock-Taussig
shunt) is created from a major systemic artery to the newly unifocalized
pulmonary arterial tree. Subsequent intracardiac repair is performed based on
results from cardiac catheterization and the intraoperative flow study that
demonstrates low mean pulmonary artery pressure.
Management
• Example of PA-VSD surgical’s decision tree
Management
• Complications:
+ Bronchospasm – Many infants and children experience bronchospasm and
wheezing in the postoperative period after unifocalization surgery. This is thought
to be caused by the extensive dissection and disruption of lymphatics and blood
vessels around the bronchopulmonary tree, resulting in obstructive secretions.
+ Reperfusion pulmonary edema – Children with significant preoperative stenosis
of their collateral vessels are at risk for the development of reperfusion pulmonary
edema after unifocalization procedures.
+ Other pulmonary complications including pneumonia, large airway compression,
and pulmonary hemorrhage
Prognosis and long-term management
• Prognosis: Without treatment, there is a 50 percent mortality rate by two years
of age. With the surgical interventions described above, the five-year survival rate
is approximately 85 percent of patients survive to age 5 years and approximately
75 percent survive to age 15 years.
• Long-term management: Providing health care maintenance is a collaborative
effort between primary care and pediatric cardiology clinicians. The specifics of
follow-up care are dependent on the timing and type of surgery that the patient
has undergone. Tests used to monitor patients following unifocalization surgery
include lung perfusion scans, cardiac catheterization, and echocardiography.