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Arterial Tortuosity Syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity, elongation and aneurysms/stenosis of large and middle sized arteries throughout the body. This page was created to get medical information out to those
impacted by ATS as well as to tell family stories to help create community. Please check out the ATS face book page to connect with families! (http://www.facebook.com/#!/groups/138029982926649)
Features of Arterial Tortuosity Syndrome:
1. Vasculature:
a. Tortuosity and elongation of the aorta and arteries throughout the body
b. Aneurysms (widening) or dissections (tears) of the arteries or aorta (the large artery bringing blood away from the heart to the rest of the body)
c. Stenosis (narrowing) of the arteries/aorta. The pulmonary artery is also a common location of stenosis.
d. Aberrant (abnormal) origin of the arteries coming off the aorta
The natural history of aneurysm, dissection and stenosis in ATS is not well established but is of high concern. Some individuals present to medical care because of acute respiratory symptoms (caused by stenosis of pulmonary branches) or vascular dissection and for others, these findings are incidentally found upon imaging for other reasons. However, routine imaging follow-up including echocardiograms, MRAs or CTAs is recommended for all individuals diagnosed with ATS. This should be “tailored” to an individual depending on imaging findings and family history of aneurysm growth. Surgical intervention may be indicated.
Pulmonary artery stenosis may cause severe right ventricular hypertension and require surgical repair. The stenosis causes the right ventricle of the heart to pump harder and the muscle to become hypertrophied (larger).
There are successful reports of surgical intervention for ATS, for both aneurysms and stenosis in the aorta and arteries, including the pulmonary artery. Surgery often requires complex strategies that take into account the abnormal vascular anatomy.
Death in individuals with ATS has been attributed to heart failure secondary to pulmonary artery stenosis, pulmonary hypertension or systemic hypertension. Arterial rupture can also account for premature death.
2. Characteristics facial features:
a. Elongated face
b. Macrocephaly (large head)
c. Blepharophimosis (horizontal narrowing of the eye slits)
d. Downslanting eyes
e. “Beaked” nose
f. Highly arched palate
g. Micrognathia (small chin)
Facial resemblance between individuals with ATS is common and other features are more variable. Not every individual will have each feature, but the following are features that can occur in ATS.
3. Skeletal features
a. Arachnodactyly (long fingers)
b. Pectus deformities (chest wall pokes in or curves out)
c. Joint hyperflexibility (subluxations may be recurrent)
d. Joint contractures
e. Scoliosis (curvature of the spine)
4. Cutaneous (skin) features:
a. Cutis laxa (loose skin)
b. Soft of thin skin
c. Hernias
5. Internal features:
a. Diaphragmatic or hiatal hernia (abnormal opening of the diaphragm)
b. Tracheomalacia (weakness and floppiness of the walls of the trachea or windpipe)
c. Bladder diverticuli (small, bulging pouches in the bladder wall)
There is typically not wound healing or bleeding problems associated with hernia repair.
Pregnancy:
Stinson, et al (ObstetGynecol 2009 Aug:114(2 Pt 2):494-498) reports a successful pregnancy and Cesarean section delivery in a woman with ATS. Pregnancy is considered high-risk in this population.
Genetics of Arterial Tortuosity Syndrome:
ATS is inherited in an autosomal recessive pattern of inheritance. This mean that when a person has ATS, they have two mutated (altered) copies of the ATS gene. A person with ATS usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. There is equal occurrence in males and females. When a couple has one child with ATS, their risk, per pregnancy of having another child with ATS, is 25%.
The causal gene for ATS is SLC2a10. This gene encodes the protein GLUT10. This protein is a glucose transporter. It is thought that mutations in this gene cause decreased glucose to signal other proteins in the TGF beta (transforming growth factor beta) pathway. This pathway has been implicated in causing aneurysms in Marfan syndrome, Loeys Dietz syndrome and some cutis laxa (loose skin) syndromes.
There is no good correlation between gene mutations and clinical severity. There are only approximately 100 cases of ATS reported world-wide.
Jordyn has a rare genetic disease called Arterial Tortuosity Syndrome (ATS).
Jordyn (22 months) in her young life has had a rough road. Jordyn was born in Annapolis, Maryland. From the very beginning, there were concerns about poor feeding, poor tone, "loose skin", and "small eyes." Within 12 hours of being born, her pediatrician recommended an upper GI study, which revealed a hiatal hernia. She was transferred to Johns Hopkins Hospital NICU at one day old. During preparation for hiatal hernia surgery, the genetic cardiologist, Dr. Hal Dietz, was asked to evaluate her. The arterial tortuosity, along with findings of cutis laxa and mild dysmorphic features including small palpebral fissures (small eye opening) and micrognathia (small jaw) were observed during his initial evaluation, suggestive of ATS.
Once Dr. Dietz’s workup was complete, Jordyn was diagnosed with Arterial Tortuosity Syndrome. Jordyn was in the NICU at Johns Hopkins for over a month. During this stay, she had a central line placement, G-tube placement, and the hiatal hernia repair. From May 2009-August 2009 Jordyn was in the hospital with the exception of a week here and there.
At the end of June 2009 she was diagnosed with GERD (gastroesophageal reflux disease) and malrotation of the duodenum (a part of the gastrointestinal tract). She had an upper endoscopy and an upper GI series performed in August, 2009 that showed mild esophagitis (inflammation of the esophagus.
While at home for a few days, Jordyn was immediately taken back to Hopkins Emergency room, when we discovered that our daughter’s face turned pale and her lower extremities turned beet red. Her tongue started thrusting and her eyes remaining fixated to one side. Due to Arterial Tortuosity Syndrome, Jordyn suffers from extremely high hypertension (elevated blood pressure) in her upper extremities. At times, her systolic pressures had ranged from 130-140 mm Hg. Due to high blood pressure, stress put on her weak vasculature can put her at risk for a tear of arteries. Within the first month of her life she had a cardiac catheterization that showed severe lengthening, narrowing, and twisting of all her major arteries. She also has bilateral branch pulmonary artery stenosis (narrowing of the pulmonary arteries) which can cause elevated blood pressure. This required a right pulmonary artery stent because the narrowing was so severe.
Her aorta has a large C-shaped kink. Jordyn has also received a "FLASH" CT scan to get better pictures of her celiac artery, abdomen, illiac and pulmonary arteries. Since August 2009, her cardiologist, Dr. John Coulson, has closely monitored Jordyn. Within the first year of her life, she received routine echocardiograms (every 4-6 weeks) and biweekly blood pressure readings at Hopkins. We also had to take daily blood pressure readings at home with a machine.
Jordyn no longer has a G-tube. She has received occupational therapy and speech therapy through our local school system. Jordyn suffers from severe near sightedness. She will receive glasses by age 2. At home, Jordyn has occasional "episodes" of skin discoloration. Her hands and feet can turn a deep purple. Jordyn has had two catheterizations since January of 2011. t. A complication during the catheterization was an unexpected arterial tear when balloons were inserted and caused a flap of her artery to nearly block her blood flow through the vessel. During the February 2011 catherization, a guide wire unexpectedly became lodged in one of her arteries. Doctors needed to use medication and mechanical maneuvers to remove it. Doctors discovered that Jordyn also has "hyperactive" blood vessels, which causes her vessels to open and close continuously. Currently, the only medication Jordyn is on now is aspirin, as a blood thinner.
Jordyn is active, happy, and from the external point of view, no one would know she has a life-threatening condition that has historically been associated with high morbidity. At one and a half months old, doctors at Johns Hopkins gave us little hope of Jordyn surviving; this is the first case that has been seen by the specialists at Johns Hopkins Hospital. They are uncertain about how long she will survive, and have encouraged us to be thankful every morning that Jordyn awakens to another day. Now, at almost 2 years old, Jordyn is developmentally age appropriate with no delays in occupational or language skills. Jordyn will continue to have cardiac catheterizations to relieve pressures in her heart and widen her arteries. She is an ongoing case and a learning experience for all involved.
We are eager to find other families that have members with Arterial Tortuosity Syndrome. We also want to be available to share our story with others. We want more information about ATS to be shared worldwide so more medical advances can be made to help our family members.
Contact: Christie and Tom Raines, parents to Jordyn (jam4taz@closecall.com)
June, 2011
Aiden’s story begins on the day he was born, a seemingly healthy 9lb 10oz beautiful baby boy. Our pediatrician gave him a great newborn check, with no problems, and then came in later during our hospital stay to let me know he thought he heard a heart murmur. Since his birth was a c-section, we had to stay at the hospital for several days. At his first check up the next week, she was unable to hear the murmur.
I had a feeling that there was something wrong when he would gag on his formula, vomit, and would have rapid breathing when he was lying down. He was diagnosed with tracheomalacia and GERD. Aiden’s symptoms seemed to get better with medication, except for the labored breathing, but they associated that with GERD.
When he was just turning two, he had two hospital stays with a pneumonia type Illness, so they started running more tests. They detected a heart murmur. An ekg was performed that was abnormal. Based on all his features, Aiden was scheduled for a CT of the chest, echocardiogram and pulmonary consult.
The CT scan showed extremely tortuous arteries (windy vessels) that kink and form loops. These vessels were seen throughout his chest, head and neck. An elongated aorta and severe bilateral pulmonary stenosis (narrowing of the pulmonary artery) were also noted. The echocardiogram showed severe right ventricle hypertension (an elevated blood pressure in the right side of the heart) as well as severe bilateral pulmonary hypertension (elevated pressure due to the narrowing of the pulmonary artery).
Aiden had his first heart catheterization in July of 2010, and his femoral arteries were so tortuous that it took two hours just to get access for the lines. The procedure itself only took about 20 minutes, after which he went to the recovery room. The doctors were perplexed and had never seen anything of this nature at Arkansas Children’s Hospital, or in their many years of practicing medicine.
I am very thankful that his cardiologist Dr. Eudice Fontenot, aired on the side of caution that day. Had he not, it may have cost Aiden his life. Since they had never seen this before, they did not want to risk ballooning or stenting for fear of rupturing his arteries. He stayed in the hospital for several days and we began the process of finding a diagnosis. His geneticist, Dr. Stephen Kahler, is wonderful, and we are thankful for the long nights he spent doing research, and the testing he did on Aiden. The tests came back positive for Arterial Tortuosity Syndrome (ATS). Aiden carries two mutations in the SLC2A10 gene. We had an echocardiogram performed on his older brother, since he has a 1 in 4 (or 25%) chance of having ATS. His brother does not show signs of ATS so we felt further gene testing was not needed.
I spent many hours researching and comparing Aiden’s diagnosis with the very little information that I was able to find. ATS is extremely rare, and with so few patients in the world who have the diagnosis, it was very difficult to find answers to my many questions. I then stumbled across John Hopkins University, and Dr. Hal Dietz.
Dr. Fontenot and Dr. Dietz consulted together to make the best plan for Aiden’s treatment. We decided to stay at Arkansas Children’s Hospital for treatment. The plan was to do a left pulmonary artery patch, which meant they would open his chest, and retract the hairpin kink and loop and put in a bovine patch. The intent of this procedure was to hopefully reduce some of the pressure in his right ventricle and allow for further work in the cath lab. Dr. Michiaki Imamura did the left pulmonary patch plasty. On December 2, 2010, Aiden went back into the cath lab for ballooning of both the right and left pulmonary arteries. Dr. Fontenot was successful with the ballooning procedures, especially in the left pulmonary artery. Since the patch plasty straightened the left pulmonary artery, it allowed Dr. Fontenot to access the severely stenotic areas that he could not safely reach before. It was so successful in relieving the severe left pulmonary stenosis that Aiden developed complications from this, reperfusion syndrome to the left lung. He ended up staying in the hospital for a week.
At Aiden’s 6 week post-cath appointment, the echocardiogram showed a significant decrease in the right ventricle pressures. This was such great news, and I think much more than they had hoped for. Dr. Fontenot danced in the room and I cried with relief and joy! Aiden is the first ATS patient at the time, which we could find, in the United States to have pulmonary patch- plasty and the other invasive procedures he has had. I pray that by getting awareness out there, we can find other families and help each other cope and find new ways of treating our children. ATS is so rare and so complex that there are so many things that can go wrong at any moment. All of this came to pass for Aiden in a 9 month period, and I am continually amazed at how strong willed that my little boy is.
I thank all of his team in Arkansas for their incredible help taking care of Aiden!
Contact: Andrea, mom of Aiden (andreacurtis01@yahoo.com)
June, 2011
Daren and Sean have a rare genetic condition called Arterial Tortuosity Syndrome (ATS). This is a genetic condition that causes the arteries in the body to be tortuous or very windy. They were born in Fort Lauderdale, Florida at 36 weeks gestation. Due to poor feeding, Daren had to remain in the pediatric intensive care unit for 8 days. Sean was sent home in two days.
When they were 4 weeks old, both boys required pyloric stenosis repair. This is a tightening of the muscles in the GI tract that causes narrowing, not allowing food to reach the baby’s stomach causing projectile vomiting. Both boys had severe colic during the first 7 months of their life. When Daren was 7 months old, we found out that he had a diaphragmatic hernia. Two thirds of his stomach was sliding up and down and it was audible at times. He had two surgeries to repair the hernia. The first procedure was not successful, but they used a special mesh patch on the second surgery and it still holds. We had many upper GI series done afterwards, and he seems to be doing fine, other than some residual reflux.
Daren and Sean also had inguinal hernia repairs. Unlike the diaphragmatic hernia, this type of hernia is in the groin area. Daren had hypospadias repair. In all, they had eight surgeries in their first 3 years of their life. The boys were both found to have heart murmurs on physical examination, requiring routine echocardiograms.
When they were three, during an echocardiogram, the cardiologist could not see one of the main arterial branches on Daren, and ordered an MRI at Miami Children’s Hospital. The MRI showed tortuous blood vessels, so we did the same test on Sean. This was when we found out that both Daren and Sean had ATS. Looking back, we were able to see that many of the surgeries that the boys had at a very young age were due to issues related to this condition.
After conducting our own intensive research, we decided to visit Dr. Dietz at Johns Hopkins, who was knowledgeable about ATS. Dr. Dietz recommended that we follow up every year with full body MRA and echocardiogram every six months. As of now, they do not need any special treatment for their genetic condition. They do, however, have tortuosity throughout all their arteries.
Other than their genetic condition, Daren and Sean are a couple of high energy, active, curious and very smart little boys. They never had any developmental delays and they are above their peers in reading and math already. They love playing baseball, tennis, swimming, playing piano. They love their Legos and create marvelous things with them. They love hanging out at the beach and playing. Of course like all 8 year old boys, they are very much in to their Wii and PlayStation. They are full of life and joy, very talkative and friendly to everyone around them.
There is not much information about ATS available. We really wish there was. We would like to share our story, and hopefully get more families with this condition to exchange information. We hope that someday medical science will be able to answer all our questions about ATS and we hope that someone is able to find a cure for this condition. But until then we are keeping our fingers crossed…..
Contact: Zuhal, mom to Daren and Sean (zuhalcook@aol.com)
June, 2011
Hello, my name is Joseph Wills, I have arterial tortuosity syndrome, and this is my story.
I have had to make some quite considerable changes to my life since I was diagnosed with ATS in 2007. I am unable to play any sort of contact sport, and I find sports I can play difficult because of my hypermobile joints, another condition that has been found in other cases of ATS. I was severely set back with my joints and found that walking around for just 10 minutes was strenuous; my knees often gave way, and I had chronic back pain at night.
After my mum conducted hours of thorough research, she found HMSA (Hypermobile Syndrome Association) a website dedicated to children and adults with hypermobility. On the forums of this sight, she found out about a physio program being held at Great Ormond Street Hospital. After more research, she managed to get me booked into the program.
On September 2010, we stayed at great Ormond street hospital in London for the physio, which consisted of two weeks (not non-stop, of course) of relentless leg exercises. After this, we had to carry them on at home, increasing weights by half a pound a week to maintain my muscle strength. I have seen great improvement with my muscles since the physio. I can walk much farther, my legs rarely give way, and it has also helped my back pain.
My mum then discovered an ATS group on facebook in which we made contact with Christie Raines (whose story is also on this site) the mother of a small child who has ATS. After that, I made contact with three other ATS patient’s mothers. I am very glad that I now know that there is someone in the world that knows how I feel, and vice versa. We are soon going to start fundraising for ATS and will hopefully discover more people with the condition! Thank you for reading my story.
Joseph Wills, 10yo with ATS
June, 2011
My son Joe has ATS.
Joe was born full term and was diagnosed with a heart murmur when first born. 12 hours later he was checked again and given the all clear and we were sent home oblivious to the problems we were about to face.
Throughout the first 6 months of Joe’s life, he suffered with numerous viruses, coughs, colds and infections, but despite numerous trips to the doctors, his heart murmur remained undetected.
At 10 months old he presented with a severe virus/chest infection which would not clear with antibiotics, or steroids and I was finding it very difficult to regulate a 40+ fever. He was admitted to the hospital, and his heart murmur was detected. He was also a very “floppy” child and could not yet sit up unsupported, had made no attempt to crawl or walk, we later discovered this was due to low muscle tone connected to ATS and severely hypermobile joints. We spent 2 weeks in the hospital but the source of infection was never identified. It was then that we started our journey of tests, scans, doctors and more doctors.
The genes for ATS at this point had not yet been mapped, so we spent the next 2 years undergoing numerous tests to try and discover which syndrome Joe had, although geneticists were at this point unaware of ATS.
We were sent to GT Ormond Street Children’s Hospital in London for an MRI to find the cause of the heart murmur. The MRI showed tortuosity of both pulmonary arteries, with stenosis of the proximal right pulmonary artery. This together with severe hypermobility of joints and downslanting eyes, eventually lead the geneticists to test for ATS when Joe was 6 years old, when the gene was eventually mapped by a hospital in Belgium . Blood tests were performed on all of us to confirm diagnosis.
Joe has not had to have any medical intervention and his arteries have not deteriorated since his first scan in 2002, which is very encouraging. This said, Joe is faced daily with numerous problems relating to this condition, and the difficulty is that he is the only child in the UK with ATS, so doctors have not come across this before and I have found that there is very little help or support for the family and for Joe.
Joe is constantly ill with viruses/colds which take him a lot longer than other children to recover from. He really suffers with his joints being hypermobile, and we have started a physio program to help deal with this. He is not able to exercise and run around like his peers and this has lead to weight gain, and with that teasing at school and low self esteem.
Joe misses lots of school due to illness, and even when he is at school, he finds it difficult to manage whole days due to overwhelming tiredness. His symptoms have become a lot worse as he has grown.
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