As a mother of a child affected by Ebstein’s, I would be interested to hear the views of any adults as to what age they learned of their condition, and how (or if) they as an adult attempt to explain what Ebstein’s is to friends and collegues etc.  Is it an unhelpful label (other than medically) in the sense that most people haven’t heard of it, or do you just say “I have a heart problem”, or something similar?  What things cause the most frustration?

Thanks

Caroline

Does anyone know if EA is genetic?  My ex-husband had corrective surgery at UCLA for Ebstein’s Anomaly and WPW.  Our son is now 13 and having short of breath problems.

Hi! I’m Jamie and I just found this site. I am 26 years old and have Ebstein’s anomaly and Wolff-Parkinson-White syndrome. Most of my complications are more from the WPW but I would like to share anyway. I never knew I had anything wrong until my first SVT episode at age 12. Once they started I had one every couple of months. Sometimes my heart rate was around 340 beats per minute. I had an electrophysiology study when I was 16; after that they happened a lot less often- a year or more would go by without anything happening. When I was 22 I had my son with no heart-related complications during pregnancy or childbirth. Last week I had another SVT episode- slower than my usual ones at 206 beats per minute, but this time it hurt me more than ever before. I had a hard time breathing and just saying a few words was exhausting.

 ,

Hi.  My 31 yr old son was born with EA.  As a result of closing the foramen with the amplatzer device he now has insomnia and a profuse sweat and leg cramps. Can anyone out there relate to this?

[apologies – needed to shorten the long title – Ed]
hi, I am the Mother of a child who was diagnosed with Ebsteins at Great Ormond Street 27 years ago.

Hi, Nattikins here mother of 27 year old Laura who has Ebsteins, Wolff Parkinson, narrow pulmonary artery.  She was diagnosed at Great Ormond Street the day after her birth when at the “check” they heard a funny heart sound – they didn’t know what it was so sent her, with a police escort, up the M1 to London.  She was sent back 3 days later with a diagnosis and an appointment to attend at GOS.  That’s where her diagnosis was explained to us and we were told by our GP when we asked for a prognosis that “she could not run round the playground or she could not run a 4 minute mile” it would just be wait and see.  Anyway she was very well throughout her childhood and didn’t need any medication or interventions (apart from developing Migraine at 7).  At 20 she started to have rapid heart beat due to the extra electrical pulse in her heart and she was admitted to The Heart Hospital in London for a “simple, quick ablation to put it right”.  Unfortunately ablating this extra pulse put her into complete heart block and a pacemaker was installed.  She found this very traumatic and hard to deal with, particularly when she went for checks of the pacemaker and felt they were able to control her heart with an external magnet but she has just about got over this.  However some 6 months ago she experienced a “black dot” in her right eye – she went to the Optician and her Doctor who told her to go to the Local Eye Dept of the Hospital which she did – she was told her vision field was affected but to go back in a week.  She duly went back and was told it was still affected and was given a leaflet on Detached Retina, they also kept asking to give her an MRI scan which of course she had to explain to all of them that she could not have because of the pacemaker.  They therefore decided to make an appt to do a CT Scan.  Luckily, oh so luckily, my elder Daughter is a Doctor (currently a Registrar Radiologist) and when I told her the situation she immediately said that I should contact our Heart Specialist as it could be a clot from the hole in her heart.  I did so immediately and she was seen in January this year.  He was most concerned and arranged for a “Contrast/Bubble Test” and a letter was written to the Eye Consultant regarding his concerns and asking him to see her before her next heart appointment on 17 March.  She duly went for the bubble test and was told by the Physician who carried it out that they had never had a more positive result and it was also showing bleeps some 10 minutes after the injection of the solution – the Physician was concerned and contaced her Heart Specialist immediately.  She finally managed to get an appt to see someone at the Eye Department on the 16th March – they kept offering her appts in ~April and May, and all that was done was yet another vision test when she was told that her sight in her right eye was 60% compared to 77% and 67% on previous occasions.  She was not seen by the Consultant and was just told she had a “defective retina”.

We duly saw the Heart Specialist on the 17th when it was decided she needs to have an operation to close the hole in her heart as soon as possible as it is obviously throwing off clots and presumably has resulted in retinal emobolisms – this means she won’t recover the loss of sight and is very lucky really that they ended up in her eye and not giving her a stroke in her brain – however we still have no diagnosis from an Eye Consultant.  I am concerned and so are my daughters about the hole being closed because of how Laura will cope and if her heart will enlarge too much but they have said they will try on the table and see how it affects her.  She has a 3 year old daughter so is very concerned as is understable.

I am just so angry without my elder daughter having had medical training and suggesting that I contact the Heart Consultant this would still be going on as neither Laura nor myself would have necessarily mentioned this eye problem to him at her appointment – not putting the heart and eye together.  I, myself, had a stroke at 46 so know the devastation this can cause.  I just feel totally let down by the Eye Department and wonder if anyone else has had such an apalling experience.

I also wonder if  any other adult has had to have their hole closed due to the leakage of blood and clots and how they are coping?

Thanks for reading

We would really like some more people to sign up for our sponsored event in a couple of weeks time, so if you’d like to come along to Royal Victoria Park on Sun 11th July please email me at katy ‘dot’ turner ‘at’ ymail ‘dot’ com or feel free to just come along and support and buy some lovely cakes, jewellery and books.

Thank you

Katy, Ed and Emmeline

UPDATE: See press coverage of the event.

 

Death of Sister

05/10/10

My sister was born with epsteins, under went 2 heart surgeries, and on june 26, 2010, and the age of 25 she passed in her sleep from epsteins.

Hereditary?

27/12/10

Hi everyone

I have just been diagnosed with ebstein anomaly.  Can anyone tell me whether it is hereditary?

Thanks glenyese

My mother has Ebsteins and WPW and her doctors have decided to put in a pacemaker. Has anyone else had this procedure done to help with ebstein symtoms?  She is only 52 and on all the sites I’ve read, they say pacemakers are rarely used in ebstein patients.

Hello Web visitors,

A post from one of the first patients in England to have tricuspid valve repair by the cone procedure.

I first looked at this site in September last year, having been told of its existence by doctors at the Bristol Heart Institute. I want to share my story with you for all the same reasons that Caroline and Tim have set up the site.

In October 2007 I went to see my General Practitioner. I was breathless walking up slopes and hills, and exercising generally, compared with friends of similar age and fitness. I was 56 then. My G.P. suggested I may have asthma. He arranged lung capacity tests, an ECG and chest X-ray. A couple of weeks later I had a letter from him saying that, the X-ray showed my heart to be enlarged and misshapen. I was completely dismayed, an enlarged heart suggested heart failure to me.

The radiologist had advised I have an echocardiogram.I went to Southmead hospital in Bristol for this. The technician and consultant cardiologist were excited by what they saw. The first, never having seen the condition and the latter, not for 30 yrs. They were surprised I had been active all my life, and no symptoms recognised when I was young. I was shocked and bewildered. My husband joined me to be shown pictures in a text book; and be told I had a a congenital heart defect called Ebstein’s Anomaly. ” What did it mean? What should I do?” The consultant said I needed to see the GUCH (  Grown Up Congenital Heart defect ) people at Bristol Royal Infirmary. Feeling quite worried I phoned my G.P., clearly consulting his p.c. he then said “you’ve survived well!”

I was seen at BRI on 30th Jan.2008. The echo. and ECG were repeated. A consultant cardiologist discussed the mechanics of  E A with us. He explained that I had mild to moderate regurgitation and there was no question of any intervention. He said my life style was fine, no changes needed, they would see me in 12 months time. Before leaving I was given a GUCH info. file by a cardiac liaison nurse.

Notification of my second appointment came for June 2010. I attended at the newly built Bristol Heart Institute. After ECG and echo. a specialist registrar spoke to us. He asked about my current symptoms. My breathlessness had become much more marked, I had regular feelings of light-headedness and palpitations at times. I was beginning to really believe I had something wrong with me. The Dr. said he’d like to do further investigations, and he’d like me to consider the possibility of undergoing surgery. I was surprised and, of course, worried. Within the following eight weeks I had a 24hr. ECG, a 3D echocardiogram, an exercise test and a cardiac MRI scan. At the end of Aug.2010 I received a letter from B.H.I., saying,multiple heart specialists and surgeons had discussed my case in detail and agreed that I needed the tricuspid valve operated on, and also a pace maker fitted at the time of surgery.

My husband and I subsequently met with Mr. Massimo Caputo, consultant cardiothoracic surgeon at the BHI., but based at Bristol Children’s Hospital. He explained the right side of my heart was enlarged and becoming larger. If the valve was not repaired or replaced there would be irreparable damage and my heart would cease to pump efficiently. Also, the sinus node may well be affected at the op. so an epicardial pacemaker would be placed. Lots of information and the prospect of major open heart surgery, a lot to cope with! Mr. Caputo said he would very much like to carry out a repair method called “the cone procedure”. He explained that Dr. Da Silva had been invited to come to the BHI, where surgeons would observe him operating. The intention, he told us, is to learn and perfect the cone repair procedure for EA so this operation can be available at the BHI in future.

My op. was arranged for 20th Sept. 2010. The pre assessment took about 2hrs. with physical examinations, detailed information from a cardiac liaison nurse, and an opportunity to visit the Cardiac Intensive Care Unit. This turned out to be particularly helpful for my husband, who visited me there, when I was surrounded by machinery, with many tubes and lines coming from neck, chest and arms.( I remember nothing of being in CITCU). I went to hospital on 19th Sept. as my coronary arteries had to checked with an angiogram. Sadly, I returned home that day. Dr. Da Silva was unable to come to Bristol, because the GMC had not dealt with his application. This cancellation was psychologically difficult for myself and family.

My op. was rescheduled for Jan. 13th 2011. I was admitted to BHI on the 12th, my first experience of being an in- patient. I was visited by doctors, the anaesthetist and nurses who spent time asking and aswering questions, and explaining what would happen the next day. Mr. Caputo came with news that Dr. Da Silva had arrived. It was reassuring to see a face I knew. I left the ward at 8 a.m. and my husband tells me I was in CITCU by about 2 p.m. with an individual dedicated nurse caring for me.(I remember nothing of being in CITU).  Mr. Caputo came to CITCU, shook hands with my husband and said everything had gone according to plan and he was pleased  The following day I was moved to the Cardiac High Dependency Unit, where I was encouraged to wash my face at 6.10 a.m.! I was more awake here and believe Dr. Da Silva came with Mr. Caputo to see me. It’s all rather hazy, but I know I met him and thanked him at some point! By the evening of the 15th I was back on the cardiology ward. I felt absolutely awful, and sure I was going to die. I had a very pleasant room all to myself, large window, own toilet and shower. The staff were very attentive. The morning of the 16th arrived, I was so pleased I hadn’t died!

I spent 2 weeks at the BHI. getting better all the time. Doctors came every day and spent time with me. All the staff were patient and efficient. I was stunned by the volume of surgery being carried out there, and the obvious expertise needed by all staff  for such successful outcomes. My chest, at first numb, became painful, my heart thumped, my limbs and abdomen were bloated due to water retention, and fluid collection around my  heart   caused  concern. Though I longed to sleep, getting comfortable in bed was impossible. Food tasted like cardboard. My haemoglobin level had dropped so I had symptoms of anaemia. I was encouraged to take a gentle walk every hour or so, and soon made the acquaintance of fellow patients as we slowly paraded our breathless way up and down the corridor. I was often wired up to a heart monitor, the nurses constantly monitored my blood pressure and oxygen levels. The oxygen supply was a great help to me. I had several echos. and regular ECGs. The possibility of being discharged was under consideration when I developed Atrial Flutter and A/V block. The electrical impulses in my heart had gone awry due to the disturbance of the surgery, not unusual I was told. This was sorted immediately, in a clever way, through my pace maker, but Amiodarone has been prescribed for a while until my heart settles down.

It was so good to come home! I was warned of the short term emotional and physical effects of the op. and I suffered many of them. Mr. Caputo also told me I would feel better for having the valve repair. Well, I’ve had no light-headedness since leaving hospital, I am already walking as well as just before I went in and my legs no longer feel exhausted when I reach the top of the stairs.

The reported prognoses for adults and children who have had  the cone repair procedure is, I understand, amazingly good. It’s a bugger when your body goes wrong, but it’s no-ones fault. I am very fortunate that my condition could be diagnosed, and that something could be done to help me by such willingly dedicated people.

For ethical reasons the Drs. could not tell me much about the other 2 people Dr. Da Silva operated on in January. It would be good to know how you are getting on.

 

My daughter, Alice Eva-June Sagan Krivas was born on March 19, 2011 at 33 weeks, and passed away on March 21, 2011.  My husband Peter and I were aware that she had Ebstein’s Anomaly (at 28 weeks) but were given an optimistic diagnosis.  As it is commonly known with Ebstein’s, doctors were unable to give us much information about Alice’s particular condition until she was born.  After a routine followup (at 33 weeks), it was decided that an immediate cesarean would be necessary, as doctors found she had developed hydrops in her abdomen, chest, and heart.  Less than 24 hours later I gave birth to Alice.  She cracked a few cries and the pediatrician was optimistic.  She held tightly onto Peter’s finger as they weighed and measured her, while giving her oxygen.  It was only decided after a few hours that Alice’s condition was very severe.  A kind doctor from the Children’s hospital here in Montreal informed us that she did not have much hope.  We spent all of the next day reading to her and cuddling, though I did not get to hold her until it was decided that nothing more could be done.  We were given the opportunity to hold her and be with here in a more cozy and private environment for the last 6 hours of her life.  As she passed away, we held her in our arms as I sang her softly to sleep.  This was the most difficult thing I’ve ever lived through.  I wouldn’t wish it on anyone.

As we now look back, our minds are questioning all that happened. We wonder if there was anything at all anyone could have done to save her.  We are desperate but know that it is all too late.  It’s so frustrating to have those feelings.

I decided to join this website because I think it is very important to encourage at least one other ultrasound during pregnancy, as here in Canada women only get one, around 12-20 weeks.  If it weren’t for the many ultrasounds we had (for other reasons), this anomaly would not have been found and we would not have had the time with her that we did.  She would have more than likely passed away inside of me.

What a tragedy.

 

My Future Health

24/04/11

Hi,I”d like to give some information about my illness.And ask questions about it.I m 28 years old.I have the same anomaly Ebstein ,but I have already been operated WPW close operation in 2007 succesfully in Russia.I have no such a problem with my health now, have my check up normally , live as other even sometimes better than they are,play football , sometimes run.What do you think will happen with my health as I get older?

 

Hello Everyone

My name is Lesley I am mum to Callum age 11 and Ruby age 4. Ruby was diagnosed with EA when I went for a routine scan. At this stage into my pregnancy thats all we knew was wrong with her. When Ruby arrived we were told that she had ‘Charge Syndrome’.

Charge Syndrome is a complex condition with many complex needs and medical conditions. Anyway, Ruby hasn’t had to have anything done to her heart at the moment and we go for annual check up’s at Harefield Hospital. We went for her annual check up last week and were told that her EA has gone from mild to moderate now, we have to go back in six months time

Ruby has had so many other problems that I have never given her EA much thought but it is always in the back of my mind. Now we have been given the news that it has got worse since last year it is very much in the front if my mind now!

I am very glad to have found this website and look forward to chatting to you.

Lesley

Just wondering if anybody has had the hole in the heart sealed with EA and has it been beneficial. I have not been opperated on before and my hospital are on about sealing the hole in my heart up before fixing the valve problem. I luckly only have very minor symtoms with EA for the past 20 years and i have not got any worse.

 

Hi,

I would like to say thank-you for this website. It has been a great resource in finding out about EA.

I was given a definitive diagnosis of EA when I was pregnant with my second child and my obstetrician thought it would be worthwhile establishing the cause of my heart murmur. I was originally diagnosed when I was 8 after being monitored since infancy for a possible hole in my heart. However I didn’t have a name to put to my condition and my parents really had very little information that they could give me other than they were told by the cardiologist that as I grew the problem would get better; that everything was OK; I didn’t have the hole in my heart they initially thought I had; and to go away and live a normal life.

It therefore came as a bit of a shock when i was told that I had a very rare heart abnormality called Epstein’s Anomaly and that I was a ‘rare bird’ since not many people with my condition had had children. I was monitored for the rest of my pregnancy and was induced on my due date (even though with my first, ignorant that I had EA, I had gone 10 days over!).

After my diagnosis I went on with my life as normal with the exception of a check up every 2 years. My cardiologist hasn’t given me a lot of information over the years about my condition so I decided to do a bit of investigation myself. I was shocked (again) to discover that EA can be a fatal condition and can have significant implications for many. I guess ignorance is bliss.

I am writing this today because tomorrow I have my 2 yearly check up with my cardiologist and my condition starts to play on my mind. I am now 46 years old and as far as I am aware not suffering any ill effects despite having ‘severe regurgitation’ and enlargement of my right atrium. I hope the news is good tomorrow and that there has been no change as has been the case at my previous check ups. I think sometimes it would be nice to go back to not understanding too much about my condition.

I am thankful that I have been relatively lucky not to have been affected by EA so far and hopefully give some assurance to parents of babies born with EA that it is possible to live a normal life.

Nicole – Australia

 

Hello

 

I don’t know if anyone would be able to offer any advice. I’m 30 and I have suffered with EA since birth. I’ve miscarried several times. My doctor’s always say it is down to my EA. But I have never been investigated for this, until now. I got admitted to A&E last week and met a lovely gynaecologist who is going to help us and give me all the investigate me. We have recently got married and would love to start a family and I am just wondering if there is anyone out there who suffers from EA and has sustained a successful pregnancy. I’m after an information that people feel may help. I am hoping that the more information I can take to see my gynaecologist and cardiologist then the bigger help we have in our fight to have a family.

Thanks

 

I have Ebsteins and was diagnosed  when I was 6, I am now 42. Ive got an active life and enjoy my life. I have my limits and no when to stop. I go to my hospital appointments every 12 months. I went to the heart hospital last year for the 1st time and had the ok and didn’t have a lot of changes. So was ment to go back to my local hospital this year. I got a phone call out the blue before xmas saying I had gone to board and they wanted to operate on me. Can any one tell me how the operation was and how long they were off there feet for. Its worrying me as I’m a single parent and have a son with ADHD and I no its going to affect him big time and I will have to send him to my parents as I have no family were I live. I haven’t seen the specialist yet about this as they want me to travel back to London and ive asked them if I can see them locally as they do a clinic at my locally hospital every 3 months.

 

My daughter was born on January 7, 2014 and diagnosed with EA on January 9. I am looking for advice on what should I expect. How do I even comprehend what is going on? This is suppose to be the happiest time of our lives. Don’t get me wrong, I am still very thankful for my daughter. I just want her to have a normal life.  I have read a lot of information since she was diagnosed but wanted to hear from parents that have gone through this. We met with a Pediatric Cardiologist Specialist from The University of Louisville on January 9. He  was very helpful and had a lot of information but those few day were somewhat of a blur. He said that my daughter would probably have to have surgery within the first or second year of her life.  My wife and I went from being the happiest we have ever been to getting are life turned upside down. He explained the oxygenated/de-oxygenated blood mix was small (and had apparently improved since she was last checked). He also told us that it is perfectly safe for a newborn’s pulse ox to drop down into the 70s without any harmful side effects.

We were released from the hospital this Saturday, January 11. The pediatric doctor told us to act as if there is nothing wrong with our daughter. How in the heck can we do that?   I am trying to stay strong for my wife and daughter but it is hard at times because just like a lot of you; I ask, why us? Any advice on how to comfort my wife? She is an emotional wreck  right now. She is scared to sleep or take her eyes off of Avalynn for the fear of something happing to our little princess. This coming up Friday we are meeting with another Pediatric Cardiologist Specialist from the University of Vanderbilt. What questions should I ask? I don’t want to miss anything.

From what I understand from the last specialist, the issue is with her right ventricle and tricuspid valve. Doctors were unable to diagnose our baby in the womb because her heart wasn’t enlarged and apparently, nothing abnormal was spotted. When the hospital took the baby out of our room and to the nursery to do the standard state testing on her hearing and heart rate/pulse ox/respirations, they noticed that her pulse ox was lower than normal. From this, she had some cyanosis; blue tint around her lips and in her feet and hands. This was when they notified us and explained that they would need to move her to the NICU to monitor her pulse ox. Anyone else’s EA experience similar to ours? Was your child’s particular “type” of EA spotted after birth and not during gestation?   Any help that anyone can give would be greatly appreciated.

Thanks,

Patrick

 

Introduction

29/01/14

Hi my name is Abbie,

I am 21 years old and have Ebsteins anomaly and a hole in my heart. I was lucky in that my condition was discovered by a midwife the day after I was born. My birth went well it wasn’t until the following morning that the midwife noticed that my lips were blue and called a doctor. Shortly afterwards I was rushed to Great Ormand Street Hospital where they realised what the problem was. I spent the following few weeks in the Special Care Baby Unit at Frimley Park Hospital. In the years that followed I visited Great Ormand Street twice a year for scans, echo’s, ecgs etc… And was told I was coping well no need for surgery every time.

Things changed in 2011 when I turned 19 and became a GUCH patient at the London Heart Hospital. I was told they thought they could improve things by surgery. In August 2011 I had open heart surgery performed by Dr Tsang, they repaired the valve using Cone technique and I also had a pacemaker fitted. I was very scared before hand but after the surgery I immediately noticed the difference. I didn’t struggle in the cold and didn’t get out of breath so easily. However recently I haven’t been feeling so good! The breathlessness has come back and my fingers are turning blue again in the cold. It would now seem that I need further surgery, they want to try and close the hole in my heart as they believe if they can successfully do this it will stop the problems.

I haven’t been given the date for my surgery yet as they want to do further tests. I seem to be stressing out a lot about this and have seen my doctor about anxiety and she pointed me towards this site. I am hoping that I may find some help, support or even offer support to others going through the same kind of thing.

Abbie.

 

Hello,

My wife was just diagnosed at 35 with Ebstein’s and pulmonary hypertension.  At this age is it usually not severe?  What changes in lifestyle?  Sometimes there is a lot of pain in the morning.  Is there a sleeping position that is recommended?  Any tips or info?  Can she exercise?

 
I am 61 and have Ebstein’s Anomaly since birth. In 1997 the tricuspid valve was reconstructed. Recently, within the past 2 years, there has been greater leakage of blood. I’m also in atrial fibrillation. At this point we are trying to evaluate surgery now or wait. I would like to know if anyone else is going through this or has gone through this with 2nd surgery.
Thank you,
Richard Oake
 

I am 67 years old and was diagnosed with Ebsteins Anomaly (EA) in March 2014.

In late 2013 I was having problems with fuzzy vision and MRI indicated abnormal blood vessels in my eyes. I was referred for cardiovascular investigation and in early 2014 atrial fibrillation was found and EA diagnosed by echocardiogram. The EA diagnosis was a complete surprise. The doctor said there was something unusual in my echocardiogram and went to consult a colleague. He came back and said I had EA and was only the second adult case he had seen in his long career. I was told to avoid vigorous exercise – his words were: don’t run for a bus! I’m a retired biomedical scientist and looked on the internet for information about EA and was quite alarmed at the seriousness of the condition and the apparent low incidence of survival to my age.

In subsequent weeks I had instances of palpitations and shortness of breath in the night resulting in emergency visits to A&E and became very aware of right jugular pulse due to tricuspid valve regurgitation. Simply going upstairs to bed causes shortness of breath with a strong jugular pulse making it difficult to go to sleep because of hearing blood flow in my head.
Over my whole life I have avoided vigorous sporting activities (did not have the energy!) and had several instances of transient blackouts in recent years. However, as a scientist I have travelled widely round the world without health issues. The recent emergence of EA symptoms may be stress related. My father died in 2013 and I have no siblings to help me support my 90 year old mother who has memory loss and lives at the other end of England.

I have been told that although tricuspid valve repair is possible, for me the risk outweighs the benefit at this time. Taking daily beta blocker, histamine H2 antagonist and warfarin tablets I am now feeling much better but have to carefully manage my daily amount of exercise. Since starting warfarin in January 2015 the jugular pulse seems less intrusive.

I would be very interested to hear about the experiences of anyone who has been diagnosed with Ebsteins Anomaly late in life!

Thanks,
Trevor