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What is Heterotaxy?

Heterotaxy is used to describe certain types of heart defects.
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  • Written By: Tricia Ellis-Christensen
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  • Last Modified Date: 28 November 2014
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Heterotaxy is a term used to describe two groupings of congenital heart defects that generally involve a looping defect, dextrocardia. In addition to several anomalies in the heart, the liver of a person with heterotaxy is generally midline, instead of placed on one side of the body. The most significant indicator of heterotaxy is the presence of a number of small spleens, polysplenia, or the total absence of a spleen, asplenia. Heterotaxy is split into two types, left atrial isomerism and right atrial isomerism, sometimes called Ivemark’s Syndrome.

Left atrial isomerism is generally associated with polysplenia. This form of heterotaxy is less severe than Ivemark’s because these multiple tiny spleens tend to do some of the work of a regular spleen. Often, ventricular septal defects and pulmonary stenosis are present, but these two conditions, unless severe, can usually be repaired in one surgery.

Surgical repairs for left atrial isomerism are usually not necessary right after birth. Surgeons generally elect to repair the heart’s defects during the first five years of life. Diagnosis of dextrocardia is usually made during routine sonograms, but prior to birth it is difficult to determine whether a spleen or multiple spleens exist, because they cannot be visualized easily. After birth, a blood test can determine splenic function to confirm diagnosis of polysplenia associated with heterotaxy.

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Right atrial isomerism is one of the more difficult heart anomalies to treat. This form of heterotaxy is marked by multiple defects in addition to asplenia. The most prominent defect is complete atrioventricular canal defect. The septum between the ventricles usually has a large hole, allowing blood to mix. Additionally, the septum between the atria may never have formed, and the atria are generally undersized.

Extreme pulmonary stenosis and transposition of the arteries may also be present. As well, the pulmonary veins may drain on the wrong side, depriving the heart of oxygen-rich blood. These multiple defects usually require surgery soon after birth, and generally the surgery must be done in stages, as with the Fontan procedure.

Surgery to correct right atrial isomerism is complicated by asplenia. Lack of a spleen means a much greater risk of post-operative infection. A child with this form of heterotaxy will require daily antibiotics for life, which may cause problems later.

If right atrial isomerism requires staged operations that can alleviate but not fix the heart defects, then at some point the child will probably need to undergo a heart transplant. Key to successful transplantation is the ability to fight off infections. However, long-term use of antibiotics builds resistance, so the available types of antibiotics after a heart transplant may be slim for the child with heterotaxy.

Despite the risks of surgery, and the need for daily prophylactic antibiotics, present surgical techniques are improving the survival rate of these children. Fortunately too, heterotaxy is one of the rarest forms of congenital heart defects, and a child is much more likely to have dextrocardia with abnormal heart than either right or left atrial isomerism. Research suggests that unlike most heart defects, heterotaxy may have a genetic cause. Scientists have found a gene in mice that they believe may be responsible for heterotaxy. However, the same gene has not yet been found in humans.

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anon331640
Post 23

I have a five month old granddaughter who has right atrial isomerism. She also has TAPVR, ASD, SVT, pulmonary atresia, a moderately leaky valve and is asplenia. Her cardiologist gave us the news yesterday that there is medically nothing more they can do for her. She had a BT shunt placed in at 19 days old. She is currently taking amiodarone, lisinopril, furosemide, amoxicillin,spironlactone,omeprazole and aspirin. My one hope is that someone will hear my pleas and give my beautiful granddaughter a chance to live. Sue from Australia.

anon315513
Post 22

In January 2012, my 11 year old daughter became ill. Her sister was just getting over the flu and I suspected she too was getting it. It soon became very apparent that it was something entirely different. She began vomiting a bilious material and was having a hard time standing erect. When I took her to the doctor my first thought was appendicitis. Once at the doctor he said to me, “Oh she has the flu. I’ll just give her tamiflu and she’ll be good.” Thank heavens I stood my ground and insisted that he feel her stomach, because once he did, he knew something else was going on. Immediately, we were sent for tests at the hospital. Blood tests and two CT scans later I was told that they were not sure what was going on, but that it was very serious and that they couldn’t be sure if it was an appendicitis because they couldn’t actually find her appendix. The surgeon believed this was an emergency situation that he was not comfortable handling and we were flown four hours away to the nearest children’s hospital. Once children’s did all of their own tests, it became apparent to them that abdominal surgery was imminent.

She ended up having a Ladd procedure and an appendectomy that night. Her intestines were twisting upon themselves. Soon after, we learned that, along with the malrotation she had polysplenia with six spleens, a congenitally short pancreas, midline defects of her stomach, liver appendix and bladder, azygous continuation of the IVC, bilateral bilobed lungs and levocardia (which the cardiologist said means her heart is not ‘normal’ but still works perfect.) She also has lumbar lordosis with spondylythesis, scholiosis that curves opposite of what is normal and degenerative disk disease.

Up to this point I would have said that she was my healthiest child, at the 100 percentile in her age group for height and weight (not a little girl), rarely ever sick. We were completely shocked to find out that all of these things were going on inside her. I thank God every day for such a miracle, but do worry about what her future will bring (medically speaking).

anon313017
Post 20

I just had a diagnosis of left atrial insomerism, her stomach on right, interrupted IVC and slow heart rate. I'm 22 weeks pregnant and terrified.

anon288878
Post 19

I am a 45 year old female who has remained healthy my entire life. It was found out through a routine gall bladder surgery removal thirteen years ago that my spleen was absent from my body. I was diagnosed with congenital asplenia. My blood smears showed howell jowell bodies through the years of routine health physicals. I'm grateful for the diagnosis as I could not convince my haematologist that I did not have my spleen removed throughout my life.

I have been hospitalized with an abdominal infection that was treated intravenously with antibiotics and also had what was believed to be a twisted bowel. I understand now the twisted bowel is likely due to malrotation of the intestines which is something seen with congenital asplenia. My echo cardiogram shows no defects in my heart. I hope this is a thorough test.

As I age, I'm mindful of the need to be treated with antibiotics at the first sign of a fever. Unfortunately, I have no family health history.

anon207482
Post 18

We have a 2.5 year old daughter, with Left Atrial Isomerism, and heterotaxy - midline liver, right sided stomach, two bi-lobed lungs, IIVC, malrotation of her intestines (Ladd's procedure to correct at eight months old, and appendix removed at the same time).

She's on penicillin twice daily, and touch wood hasn't had any serious infections yet. Signed off from heart care at four months old. She is growing well and is a very happy child. We are lucky though, from what we have heard from others.

anon204468
Post 17

I have a four year old son who was diagnosed with Heterotaxy. He has dextrocardia, pulmonary stenosis, and malrotation of his intestines. It is hard for me to know all that is wrong with him because his condition is very unique. He is only using one lung with multiple heart defects.

The doctors didn't think he would make it past his first birthday, but he is now four! He had open heart surgery at two weeks of age to attach his pulmonary veins, to save his heart from failing. I know I am so blessed with my miracle son because he is as healthy as he can be.

He rides his bike, and plays with his brother. There are no other options for him at this time and the doctors are stunned as to why he is doing as well as he is. I pray every day that he continues to grow and be healthy as he can.

anon196147
Post 16

I have a seven month old son who has DORV, pulmonary stenosis, RAI and Asplenia. Because his condition is well balanced at this time he bypassed the first stage Norwood procedure. He just has his Glenn and was in and out of hospital within seven days. He continues to do well so far and we are very happy.

anon186610
Post 15

I am currently 21 weeks pregnant and recently found out that the doctors believe that my baby has Heterotaxy and Right Atrial Isomerism. While the news is devistating, seeing these posts gives me hope that my little girl will be able to survive and live a semi normal life. She may not be a marathon runner, but neither is her mom!

Please continue to post your stories if you are a survivor. It gives families some hope in during a time when little is offered from others.

anon183504
Post 14

Would love to hear from the 33 year old female who posted here. We are a group of mums and dads with children who have heterotaxy and i know they would love to hear and know how you are doing. Thank you so much for posting your story here. You have given hope to our children, and we would also love to hear from all other mums and dads who have little fighters of heterotaxy, also. Please find us on facebook under Heterotaxy Ireland.

anon169300
Post 13

I lost my three week old son at 12 hours post bt shunt! you all are so blessed!

anon164440
Post 12

I'm 33 year old female congenital heart disease person born with Heterotaxy, Right Atrial Isomerism, asplenia, complete AV septal defect with unbalanced ventricles and hypoplastic LV, double outlet RV with pulmonary atresia.

I've had my first episode of spontaneous bacterial peritonitis tow years ago. The cause is still unknown but my guess is eating some sausage while camping. I've also got probable cardiac liver cirrhosis. I take penicillin twice daily since the Fontan at age nine, along with (sintrom) warfarin because of a pulmonary embolism I had at 23. Also some furosemide to keep down the small ascites.

I'm very social and try to keep up with my friends, family and work, though I find it starting to get tougher when I hit 30. I get more tired and it takes me longer to recover from a night out at the nightclub.

In my teens to early 20's, I was very active and had gone on many roller coasters, have snowboarded for a number of winters, took kickboxing and rollerbladed. Physical activity, however, ended after the pulmonary embolism at 23 (doctor's orders). Now I stick to salsa dancing or just hit the nightclubs. However, that's slowing down now so I only go once a month.

I work full-time, don't have kids (not having any either), eat as healthy as I possibly can, drink plenty of fluids and take lots of vitamins. I haven't had a cold all year this time (knock on wood)! I feel I'm in good health. I just recently noticed that I feel more tired than normal, but I'm keeping up with my yearly check ups and they always say I'm good. -Toronto, Canada.

anon159605
Post 11

I have a gorgeous 10 month old girl with heteroraxy, polysplenia, dextrogastria, and thank God the only thing that affected her heart was a very common small PFO, that has grown on its own. The statistics are something to the effect of boys having it 2:1. So, while it is much more common for boys, girls are also affected.

Most of the doctors in my area had no idea what my sonogram meant when I was pregnant with my daughter. I had to do all the research and studying on my own. So when my daughter presented with bilious vomit I knew that it was time for someone to take me seriously.

Sure enough, I took her to the ER and no one believed me that her stomach was on the wrong side, until they did a routine x ray and saw her air filled stomach on the right side. The rest is history.

There needs to be a way to bring some serious attention to this. My daughter was almost another statistic because the ignorance of my medical community. One surgery down for possible obstruction, procedure and appendectomy and she is so healthy!

anon152989
Post 10

My daughter Tehya is almost three months old. She has one lung (oversized), Dextrocardia, asplenia, had surgery for annular pancreas, and malrotation or the intestines. Her appendix was removed since it wasn't in the correct spot (would cause issues if it ever burst). She is on amoxicillan prophylactic. Does anyone take probiotics for taking antibiotics so much?

anon131145
Post 9

I have a 7 year old daughter with left atrial isomerism, polysplenia, and visceral situs inversus. She has never had any issues as a result of her heterotaxy and has been a normal healthy active child since birth.

Jacqui Gray
Post 8

I have a two and a half yer old girl with right atrial isomersm, PV, DORV and AVSD. She is doing very well. She's had two of the three stage surgeries. The fonatan will be done at about three or four years of age. She is asplenic and takes asprin and calvepen. Jacqui, Ireland

anon106332
Post 7

Any info on polysplenia without heterotaxy? We lost our baby to early preterm labor at 21 weeks, and autopsy identified polysplenia without any evidence of situs.

anon83214
Post 6

I'd just like to say this heterotaxy is not limited to boys. i have a beautiful 22 mth old girl who has given me a hell of a emotional rollercoaster of a ride.

she has midland heart, no spleen, right svc to right atrium, left svc to left atrium, pulmonary atresia and a complete atrioventricular septal defect plus a whole load of other problems including development problems.

Despite all her problems i have never known such a placid child who has nothing but smiles. She is so happy all the time and even though emotionally she's stressful she makes up for a lot in her personality. She's always beaming. Everyone who meets her falls in love with her and I've noticed too, with children who have these problems, they seem to be the happiest of children.

My daughter will receive her first part of the fontan circulation towards the end of this year so I'm hoping all will go well. I often think about my child's future and how she'd cope at school but I've been well assured by doctors she will be able to do most things her friends can.

anon74229
Post 5

I am a mother of a healthy eight year old son with Dextrocardia, Heterotaxy with Left Atrial Isomerism and polysplenia.

He received a 5mm BT Shunt at five weeks old, had the Glen procedure 10 months later (day before his 1st birthday) and had the Fontan just before five years old. All performed by the same Surgeon at UCSF.

My son is healthy, happy and thriving. The cardiologist that he has is the same one that has followed him since birth, says that he is able to participate in regular activity at self-limitation.

He discourages contact sports such as football, soccer, karate, etc. This last year he said that T-ball would be fine, but he was still concerned of the possibility of his chest being struck by a baseball at a high speed.

As a parent, I have not treated him any different as if he hadn't had CHD. This has shone him that although he does need to be aware of his health, he still follows that same discipline as any other child.

I do think this is very interesting that although the rarity of this defect, all the cases are male.

anon60622
Post 4

I have a 11 month old son with Right Atrial Isomerism and Asplenia and takes amoxil twice a day. he has had one of two surgeries done, he has had the glenn and TAPV repair done all in one surgery. he is doing great and we hope he continues to do great. we live in Nova Scotia.

anon43450
Post 3

Hi. i have a 2-year-old boy who has heterotaxy, polysplenia syndrome and some other things in his heart. I would like to know would he have a normal life as other kids?

anon23913
Post 2

I'm an 18 year old male who has Heterotaxy and Right Atrial Isomerism and asplenia. I had two open-heart operations. My septum had the hole mentioned in this article, and my heart is monitored pretty closely (I see a variety of specialists every year to two years.)

For my asplenia, I take 500mgs of Amoxicillan each day. Thus far, I have not had any complications due to my Heterotaxy syndromes and am in fairly good health.- JC. Nova Scotia, Canada.

caler2
Post 1

My 14 year old son has Heterotaxy with Left Atrial Isomerism and polysplenia. He is a post fontan (external conduit)and has a pacer.

He is in good health and very active in sports.

I would like to know if you have any data on patients with this condition that are active in sports. Or any information/case studies of active teens with this condition?

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