Bicuspid aortic valve is the most common
congenital heart defect, affecting 1% of all children and adults. In this
condition, not only is the aortic valve malformed but also it may not work
properly (it can be either too narrow or leaky), putting the heart under high
strain. Furthermore, the wall of the aorta, the major artery of the body to
which the aortic valve is connected, can be weak in children and adults with
bicuspid aortic valve and thus the aorta can swell and dilate over time,
causing an aneurysm. An invasive treatment (either by catheter or key-hole or
open heart surgery) on the valve is required in roughly 1 out of 4 people by
age 50 years.
Published recommendations from the American
College of Cardiology suggested screening of first-degree relatives (siblings,
parents, sons and daughters) of adults affected by bicuspid aortic valve. This
recommendation was based on the fact that there are families with multiple
members affected, for which a common genetic cause is very likely.
Recent research in children supports the
recommendations by showing that 10% (or 1 in 10) of siblings of a child or
adolescent with bicuspid aortic valve have a similar problem. As bicuspid
aortic valve can be readily diagnosed by an echocardiogram, the authors suggest
that all siblings of a child diagnosed with bicuspid aortic valve should be
screened for the same conditions. Even though complications related to bicuspid
aortic valve are uncommon in the paediatric age, finding the problem might
allow the correct follow-up with a paediatric cardiologist to be put in place.
You can read the original article at http://www.ncbi.nlm.nih.gov/pubmed/24709923.
Dr. Alessandro Giardini
Paediatric Cardiologist in London
www.childheartspecialist.com
