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Heart defect
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Heart defect

I'm 28 weeks pregnant an was told a few weeks ago my baby has tricuspid atresia hypoplastic right ventricle VSD what are the chances of my baby bein Down syndrome or are there any other problems linked to this heart defect??
Avatar_dr_m_tn
Dear effion,

Thank you for your question.

I would strongly recommend that you obtain an appointment with a heart specialist with a special interest in treating babies and children with heart defects. Such a person is called a pediatric (or neonatal) congenital cardiologist. To properly answer your questions it will take time and likely more than one conversation.

I assume that your babys heart condition was detected by ultrasound (or so called 'fetal echocardiography'). In addition to identifying abnormalities such as your babys heart condition, the ultrasound will allow you and your medical team to discuss treatment options before, during, and after your baby's delivery. Your labor and delivery will require the presence of a full obstetric, anesthetic, cardiac and neonatal care team, with expertise in managing both you and your babys heart condition. It is very reasonable for you to ask your obstetrician what the delivery plan will be given your babys heart condition.

You mention that you are concerned about the risk of Down Syndrome. Once again I am confident that your specialists will be in the best position to discuss the likelihood of your baby having Down Syndrome. The risk depends not only on the presence of heart defects, but also your age and past medical history.

Major innovations in heart surgery mean that most infants born with complicated heart defects / abnormalities will survive to adulthood. In fact, there are now more adults living with what we call "congenital heart disease" than children. While this is definitely something to celebrate, it is also true that many adults who were born with cardiac defects will require ongoing care for their heart condition. In fact, lifelong follow-up with doctors that specialise in "congenital heart disease" is recommended for all of these patients.

Over the years I have met many adults (>100) that were born with tricuspid atresia. Despite the challenges associated with their heart condition and the need for ongoing treatment, many report being satisfied with their lives. Your question about Down Syndrome suggests to me that you are particularly concerned about intellectual disability? My experience is that just like adults without heart conditions, some people with tricuspid atresia will leave school early due to learning difficulties while others will grow up to become highly educated professionals. There are many factors that contribute to these differences and again, this requires more discussion than I can provide in this setting.

As a first step, I would recommend that you call your OB/GYN and ask for a referral to speak with a pediatric cardiologist to obtain further information about tricuspid atresia. Alternatively, you may call your local childrens hospital cardiology department and request an appointment with a pediatric congenital cardiologist and/or neonatologist for counselling purposes.

Your questions are very important and need to be given the time and concentration they deserve.

Best of luck and take care.
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