CHD AWARENESS WEEK: Turner’s Syndrome and CHD’s
February 11, 2013 by umsalih
February is Turner’s Syndrome Awareness month. And this week is Congenital Heart Defects Awareness week Feb 7-14. While many chd’s causes are unknown, some are due to having a syndrome. One syndrome that often has some sort of CHD associated with it is Turner’s syndrome. Turner’s syndrome only affects girls. Only 2 percent actually survive to birth. The chd’s they may have vary, with many having none at all. Here are the stories of some of them, including my daughter Sajda’s.
Sajda, almost 2
Sajda has Pulmonary Atresia with VSD. She had open heart surgery at 5 days old to do a full repair, they closed her vsd and put in a conduit for her pulmonary artery. At first we only knew about her heart issues and only later did we find out through her genetic testing that she had Turner’s syndrome. She has the mosaic form, meaning some of her chromosomes are two XX and some are one X. So far the heart issues are the biggest thing we have had to deal with. She will need to see a cardiologist for life. She will need more surgeries and intervention down the road. But for now…she is a busy, thriving, trouble-making two year old :)…on the 24th that is.
Ivy was dx with Turners Syndrome at 16 weeks gestation, we suspected a heart defect, but it wasn’t confirmed until she was 2 days old, coarctation of aorta. She was transported to UCSF that day and had her repair at 4 days old. She currently see’s her cardiologist once a year and has a healthy functioning heart.
Juliana Grace Rose, 20 months old
Juliana was born at 35.6 weeks on June 2, 2011 after surviving a cystic hygroma and hydrops in Utero. We knew she had turner syndrome but several fetal echos couldn’t distinguish what exact heart defects she had. The morning after she was born she had an echocardiogram and it was discovered she had coarctation of the aorta, hypo plastic arch, and a unicuspid aortic valve. She was immediately prepped for transfer to The University of Michigan, Motts Children’s hospital. At about 20 hrs of age she started declining rapidly and started going into heart failure. She had open heart surgery at 3.5 days old to repair her CoA, and fabricate a synthetic arch. She was hospitalized for 5 weeks. Her subsequent echos have discovered aortic stenosis as well as a dilated ascending aorta. However she is stable so she was recently cleared by cardiology to be seen every 6 months instead of 3! She is very funny, energetic, active, and playful. You would never know that she was born with heart defects. Our little miracle girl for sure!
Aubrey Lynn, 2
One of a set of identical twins with mosaic Ts. At a day old we were told Aubrey had a bicuspid aortic valve, and that she wouldn’t hopefully need intervention until teens or even her twenties. People can go their whole lives without even knowing they have a BAV. At two months old we had her first follow up & learned that her heart would not follow the normal bicuspid aortic valve path. We were told that she had already developed a high moderate level of aortic stenosis and as a result of her heart having to pump extra hard she also had developed left ventricular hypertrophy. At four months old, her next follow up, the stenosis increased slightly and they saw a small hole that hadn’t finished closing yet. Her stenosis was at 65MmHg & he told us she would have balloon valvuplasty at 70MmHg. His only concern was that being as small as she was that her valve would start to regurgitate and need replaced after the balloon valvuplasty. He gave her another two months time to see if it changed. This was around the time we learned her twin also had TS, but her echo showed no cardiac abnormalities.
When Aubrey was six months old we learned that she had mild aortic root dilation, but thankfully no change in her stenosis. He bumped her to four months. At ten months old we learned that she had an extra left superior vena cava & that her aortic valve had begun to calcify, but again everything else remained stable.
At her last check up at two years old we found that her hole was almost completely closed, the size of the left side of her heart was going down, and that her stenosis had actually improved! She was now at 37 MmHg. There was no change in the aortic root dilation. At this appointment she was cleared for growth hormone therapy when her endo decides to begin them. We were told that would more than likely be this May. So far she is projected to be an end height of 4’4″ without GHT. Once those begin she will go back to cardio check ups every three months. We are very hopeful that she will remain stable and gain a few extra years before requiring a valve replacement. He said we may not make it to her double digits in age before needing a replacement, but I’m just grateful for the extra time before surgical intervention no matter how long that may be.
Lily Brigid, 16 months old
Lily is 16 months old and has Classic Turner Syndrome. She was diagnosed with Turner Syndrome at 16 weeks in utero and they discovered possible heart defects at a fetal echocardiogram done at 24 weeks. At 31 weeks it was confirmed she had an aortic coarctation. She was born at 36 weeks 3 days, and after birth they decided to repair the coarc through a thoracotomy, at which time they also reconstructed the aortic arch, 2 days after she was born. She came home when she was 12 days old. Lily also has a bicuspid aortic valve and an abnormal mitral valve that at this time just require monitoring. At 4 months of age, she had a balloon dilation done to further correct the coarc. Now, she just requires monitoring by a cardiologist every 6 months, and is a happy-go-lucky little girl. She is so cheerful and such a joy to be around, and we are so thankful for our little miracle!
Teagan, 6 months old
Teagan was diagnosed in utero with Hypoplastic Left Heart Syndrome, a condition where the left side of the heart does not develop and does not work effectively. She has had two surgeries in a series of three, the Norwood and the Glenn.