Cardiovascular

Cardiovascular challenges in individuals with Emanuel Syndrome. The 2009 study our group participated in (Carter, et al.) reported that about 57% of children with Emanuel syndrome will have some form of heart defect, and about half of those will require surgical repair. Many of the heart issues did not affect life expectancy. Some of the more common heart defects found in our children are:

Atrial Septal Defect or ASD (most common: seen in 45% of children with a heart defect)
Ventricular Septal Defect or VSD (13% of those with a heart defect)
Patent Ductus Arteriosus or PDA (11% of those with a heart defect)
Pulmonic Stenosis (6% of those with a heart defect)
Total Anomalous Pulmonary Venous Return or TAPVR (3% of those with a heart defect)
Tetralogy of Fallot
Coarctation of the Aorta

Other uncommon heart issues have also been reported in the medical literature.

A few instances of hypertension have also been reported (Carter et. al., 2009)

A cardiac assessment would be an expected evaluation for all children with Emanuel Syndrome.

“Aedyn was born with an ASD (atrial septal defect) and was monitored by a pediatric cardiologist from birth. At 2 1/2 months, an additional heart defect was discovered – pulmonary valve stenosis. Because he had been born prematurely and was quite small, the goal was to get him to a bit more normal newborn baby weight before having this addressed in the cath lab. So at 3 1/2 months, he had a balloon procedure to help “pop” the valve open more so it wasn’t so narrow. We were informed that as he grew, he would very likely need this procedure done again maybe several times. To date, Aedyn is 10 years old and his cardiologist describes him as the “poster child for a balloon procedure” and has not needed any more intervention since 3 1/2 months old. For the type (size) of ASD he had, we were told that would be addressed at around age 4 or 5. His heart has continued to manage this well and has never needed the ASD addressed. Both issues are doing well! When the doctor said we could move to annual appointments I cried it was so overwhelmingly positive! We had not expected he would do this well! Currently, he sees his cardiologist every 2 years or so. His doctor said he would normally feel comfortable discharging him with how well his heart is doing, but since Emanuel syndrome is “always a wild card” we all feel more comfortable with periodic check-ups.”

“Phoenix had a coarctation repair at just 5 days old. His recovery was amazing. He had a drain in for 3 days. He also has a small VSD right at the bottom that has not caused symptoms but is monitored yearly. He also has a bicuspid aortic valve which also is non-symptomatic at present. He will be with cardiology for life.”

Several of our group member’s children have undergone heart surgery to correct their defects, either through a procedure called heart catheterization, or open-heart surgery. Most have done well after their surgery. Most of the heart abnormalities seen in children with ES are correctable with surgery.

Additional information:

CDC – Learn About Congenital Heart Defects:

American Heart Association – Preparing for your child’s Heart surgery

References

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957