IRT-HeartJourney

Tetralogy of Fallot With Absent Pulmonary Valve with Discontinuous Pulmonary Branch Atresia, absent left kidney and 22q11.2 deletion syndrome (also known as DiGeorge syndrome)

Illyana she is such an amazing gift from God, So originally we found out she had Tetralogy of Fallot With Absent Pulmonary Valve before birth, that is still the same but now Discontinuous Pulmonary Branch Atresia which 1 in every 200,000 to 1 in every 300,00 are born with just this one heart disease has been added to the diagnosis, this has increased how rare the condition is from the 0.2% to 0.4% to now 1000 times rarer, look how amazing God’s gift is she, has already beat the odds and continues to beat the odds.

Long Term Outcomes of Tetralogy of Fallot With Absent Pulmonary Valve (from the Pediatric Cardiac Care Consortium)

Tetralogy of Fallot with absent pulmonary valve (TOF-APV) is a rare form of tetralogy with unique challenges due to the combination of pulmonary annular stenosis, severe pulmonary regurgitation, and airway compression secondary to aneurysmal dilatation of the pulmonary arteries. Data on the long-term outcomes of repaired TOF-APV are scarce. We used the Pediatric Cardiac Care Consortium (PCCC), a large US-based registry, to describe the postrepair transplant-free survival of patients with TOF-APV. We queried the PCCC for patients operated for TOF-APV between 1982 and 2003. Death or transplant events were ascertained from the PCCC and by linkage with the US National Death Index and the Organ Procurement Transplantation Network through December 2019. A total of 126 patients were identified with TOF-APV repair (primary n = 119, staged n = 7). The majority of them were repaired with a right ventricular to pulmonary artery conduit (n = 80, 64%) and 43 (34%) with transannular patch. In-hospital mortality occurred in 31 patients (25%); post discharge and over a median period of 19 years (IQR 0.37 to 23.7 years), 5 patients died and 2 underwent heart transplant, one of whom subsequently died. The 25-year transplant-free survival post discharge after TOF-APV repair was 92%, which was similar with the outcome of patients with simple TOF undergoing non-valve sparing procedures (94% log-rank test p = 0.455; aHR 1.37; 95% CI: 0.63 to 2.97, p = 0.432). In conclusion, early in-hospital mortality is high for TOF-APV; however, once repaired and survived to discharge, long term survival is similar to simple TOF with non-valve sparing procedures.

Absent pulmonary valve syndrome (APVS) is a unique and rare cardiac defect that occurs in 1% of fetuses with congenital heart defects and 0.2% to 0.4% of live births.

Discontinuous Pulmonary Branch Atresia which 1 in 200,000 to 1 in 300,000 are born with just this one heart disease has been added to the diagnosis, this has increased how rare the condition is from the 0.2% to 0.4% to now 1000 times rarer.

Discontinuous pulmonary branch atresia is a type of pulmonary atresia, which is a congenital heart defect (CHD) that prevents blood from flowing from the right ventricle of the heart to the lungs:

• Explanation pulmonary atresia, the pulmonary valve, which regulates blood flow from the right ventricle to the lungs, doesn’t form properly. This can be caused by fused valve leaflets that form a solid sheet of tissue where the valve opening should be. As a result, blood from the right side of the heart is unable to reach the lungs to pick up oxygen.
• SymptomsSymptoms of discontinuous pulmonary branch atresia include:
  • An extreme boot-shaped appearance of the heart
  • A common right-sided aortic arch
  • Severe cardiomegaly from massive right atrial dilation

Pulmonary atresia is a birth defect (pronounced PULL-mun-airy ah-TREE-sha) of the heart where the valve that controls blood flow from the heart to the lungs doesn’t form at all. In babies with this defect, blood has trouble flowing to the lungs to pick up oxygen for the body.

Tetralogy of Fallot with absent pulmonary valve is a rare variant of Tetralogy of Fallot, a congenital heart defect. In this condition, the pulmonary valve does not form or develop properly in the womb. It’s found in about 3% to 6% of people with Tetralogy of Fallot and can lead to issues like respiratory compromise, cardiac failure, or cyanosis, especially in the neonatal or infantile period.