mash
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beta blockers
jervell something(dont remember)--long QT with deafness
romano ward --long QT without congenital deafness(AD)
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| bose
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You're right. The DOC for familial LQTS is beta-blockers. These pts can have syncope and sudden death due to Torsade.
Jervell-Lange-Nielsen Syndrome - Autosomal Dominant
Romano-Ward Syndrome - Autosomal Recessive
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| AAAAA
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OUR FAMILY STORY
I was born in 1947. I am the youngest daughter of a family of four children, three girls and one boy. My brother is the third child, the last is a girl. In December 1973, I was first confronted with the Long QT Syndrome without knowing this abnormality was existing. At the time, I was five months pregnant with my daughter Céline. I was 26 years old and it was my first pregnancy. One evening while I was getting out of the car, I had cardiac arrest (with urine loss). I had a loss of consciousness for more than a minute. The doctor came to see me and attributed this episode syncopal to my pregnancy. No examination was done because he was not concerned. I was not reassured because my younger sister was 23 years old and had experienced the same episodes syncopals like myself.
My young sister had her first episode syncopal (with urine loss) at the age of 20 while getting out of the car. The doctor concluded that she had hypoglycaemia. She had examinations but nothing was ever found. Nine months later, she had an episode syncopal again. In the months to follow, episodes syncopals became more and more numerouse with urine loss always and in varied circumstances, strong emotion, tiredness, fright, etc. Several times she was hospitalized but always nothing was found. Two times she had episodes syncopals where she was connected to a monitor but doctors saw nothing abnormal. The doctors were probably aware of this abnormality. The cause of the episodes syncopals were varied and fanciful: epileptic fit, hypoglycaemia, neurosis etc...
The doctors indicated that she cause her episodes syncopal. One day, a doctor at the hospital suggested maybe an appendicitis was responsible for the disorder. She had her appendix removed but nothing changed. On the contrary being very tired, episodes syncopals got closer and more numerous. She was exhausted totally and she was feeling very bad. Three weeks before her death she told my mother that she knew she was about to die.
She died on the night of December 17, 1975 at five o'clock in the morning after arresting several times during the five years. The cause of her death was not known.
For myself, in January 1979 I have had my second cardiac arrest with urine loss at five o'clock in the morning in my bed while I believed to hear the ringing of the phone. One hour later I went into the hospital. I explained what had occured and informed him of my family story. Examinations and electocardiograms (ECG) were done but the doctors did not know how to read them. I was able to have the ECG again and this time the QT interval was prolonged. The doctor said that I had an Epileptic Fit and he didn't take note of my family history. Three days later I went back home but was continually anxious.
In September 1986 a third cardiac arrest, with urine loss, occurred around five o'clock in the afternoon while I was answering the telephone. When the doctor arrived after a period of time, I explained what had occurred and informed him of my family story. But like the last time he did not take note of it. He asked me what I had eaten previously. I had eaten grapes for dessert. He then indicated that my episode syncopal was due to grape seeds and the grapes skin. The diagnoses was not very convincing and for me very fanciful. To reassure myself he sent me to see a cardiologist. The cardiologist did not take note of my story either. He did an ECG and concluded I had made a vasovagal syncope and he wished to me 50. Personally I was not really wanting to joke and I answered him: "I will be dead before 50 cardiac arrests". He wrote a letter so that I could go to see a neurologist. He mentioned it was useless to continue extensive research because I had neurosis because I had previously compared my case to one of my sisters whose death was never explained. For me that was a "black day". This time I had made my decision, I would not go to see anymore specialists. It did not matter what would happened, I was through. I suffered severe hypotension, renal problems and other troubles. During the next ten years I managed to obtain medications from doctors without giving them explanations and without them asking. Personally these doctors were simply pharmaceutical representatives.
In November 1989, my fourth cardiac arrest, with urine loss, occurred when the phone rang. Disheartened by the doctors I had seen before, I was wanting to see any doctor more. Personally I was thinking all would end like my sister, but what could I do? A few days after, my husband and myself met with a friend who was a gynecologist. He was not aware of my problems but could see my face was very lined, so he asked me a few questions. I explained to him what I had experienced. He begged me to go see one of his friends who was a neurologist and added that : "this person would be willing to listen". I was not grabbed by the idea of going to see this neurologist but because of my friend I though it would be a good idea. I made an appointment and a few days later I was in his office. At my surprise, for the first time, I met a doctor who was willing to listen. He was attentive to my problems and my family history. He was aware that I had something but he said he was unsure as to what it was. He saw nothing in the encephalogram he did. He added he was thinking about another woman who was having the same symptoms. I asked him : "what happened to her?". He answered "I think she is dead". He was not sure as to whether her death was related to these symptoms or not. I was not afraid, far from it! This statement comforted me in the sense that now I was certain I wasn't imagining that I was ill as they had said often before. I left the neurologist not disappointed with the conversation.
In November 1996, my fifth cardiac arrest with urine loss occurred while getting out of the car. This episode syncopal was more serious than the others. I remained lifeless about one minute and a half. I regained consciousness but remained in a second state during more than a hour. My blood pressure was at 50 and I was enormously tired. I was thinking the next time would not be good but I still wasn't considering seeing the cardiologist. Meanwhile two or three days later, a friend phoned us. My husband explained to him what I had experienced. She told him her sister was a doctor and a well know cardiologist. What she told me was not interesting. I was wanting to tell my story more. But this friend insisted and begged that I make an appointment. She phoned to her sister about more information on the cardiologist. Once more I was feeling obligated to make an appointment. It was very painful for me. I went to see this cardiologist and I informed him of my family story. He asked me several questions then he remained silent. Finally he told me: "I think you have the Long QT Syndrome". I was understanding nothing and furthermore I was very skeptical. I had heard everything for the last 21 years that I was ready to hear anything. The doctor provided us more detailed information on this ailment. I was not very convinced because he added I must go to the hospital in Montpellier (France) for an examination to confirm this. The doctor being unsure, I wasn't in a hurry to go to the hospital during eight days. The cardiologist insisted to me and my husband that there was some hope. I accepted this information.
When I arrived at the hospital I was taken into care by a team who was very interested in my case as well as my family story. Examinations followed for the next nine days. I often asked why so many examinations and they were always the same, all the more because as soon as I arrived they confirmed that I had LQTS. He said that he could treat this abnormality. The professor prescribed me beta-blockers (AVLOCARDYL) all in knowing that I was suffering severe hypotension as well as the Raynaud's syndrome. Like it was foreseeable I can't take this drug. Remedy was worst than evil. My blood pressure was to 70. My cardiologist was in touch with the Professor of Montpellier who decided to change my treatment. He prescribed me another beta-blocker (CORGAR). The result was also disappointing. Two months later the cardiologist prescribed me another beta-blocker (DETENTIEL), but the results were identical to the other two beta-blockers. One month later, progressively, I was deciding on stopping the beta-blockers. My cardiologist was informed and he said to me kindly : " When you have cardia arrest one day, maybe you will then take beta-blockers!!". I thought this attitude was so "rubbish" for a specialist. I thought immediately: "An idiot again!!". I am backed to square one.
About 15 days after I stopped taking the beta blockers I had for the first time a vasovagal syncope. That was totally different compared with my five cardiac arrest. Once I stopped taking the beta-blockers, the professor of the hospital in Montpellier phoned me. He explained to me the risks I was taking without treatment. The Professor proposed to me to implant a pacemaker with beta-blockers. I did not understand why I couldn't take beta-blockers. I was refusing without any regrets. For me, this treatment was not coherent. Therefore I remained two years without any treatment.
Now I knew what I had to do to continue my research. Afterwards I got in touch with other specialist in France. The one I was in touch with did not agree with the professor of Montpellier in regards to implanting the pacemaker and taking beta-blockers. The other specialist did not know what treatment to advise us, as if he knew of LQTS. During my hospitalization in Montpellier, the Professor and his team informed me of the necessity for a genetic research for members of our family. A few days later I came out of the hospital before the end of December 1996. My daughter and my parents underwent testing for research for LQTS. Thanks to the ECG's, we knew the results. My daughter had LQTS like my mother. In February, 1997, my brother and my older sister were genetically tested. My brothers son was in the military and had not undergone testing. He was 25 year old (1974) and he had an episode syncopal at the age of 18. My brother has LQTS, seen on the ECG. For my sister, we must wait for the genetic test results. In the past she has had episodes syncopal.
My daughter Celine was born on May 11, 1974 and has LQTS. She had her first episode syncopal at about 14 years old when she had the flu. At the age of 18 she had a second episode syncopal when she arrived from traveling. At the age of 21, a third episode syncopal occurred when she was frightened. These three episodes syncopal have been short and without urine loss. From age 18 she began to feel more and more tired. She did not play tennis and did not ski anymore.
In January 1997, the cardiologist prescribed her beta-blockers which she could not take. About a week after she stopped treatment. He noted when the cardiologist told her she had LQTS, he was not a very good psychologist and very diplomatic. His explanations were so forceful she saw her life topple over in a few minutes. As one goes along and as days and months pass, the disorder is installed and persist today. Even if disorders are for the most part psychological, all the same they are a reality and she must live with them. That is inadmissable to doctors who can be so unconscious of their responsibility.
My mother has LQTS. She had several episodes syncopals in her life. The first occured at the age of 18 when she was playing sporst. She had two others epidoses syncopals during her first and second pregnancy. She does not remember the episodes. Now she is 76 years old (1923). Since her second pregnancy she has not had episodes syncopals.
My mother had a little sister who is died suddenly when she was 20 months old. She had several episodes syncopals. She went into convulsions several times and her death was attributed to this cause.
My brother who has LQTS, had only an episode syncopal at the age of 11, then nothing more. Now he is 50 years old (1949), his state of health isn't good. He is very tired. His heart beats are 39 a minute. The Professor who had him tested for LQTS didn't give any treatment.
My older sister who is 53 years old (1946) had several episodes syncopals during her life. The first occurred one morning while waking when she was 25 years old. By the following she had others episodes syncopals in different circumstances like being frightened and following an automobile crash. Some was with urine loss and others were vasovagal syncopes. The last episode goes back a few years. For lack of normal identification of LQTS we can relate events as if we know some people do not have abnormality at the reading of ECG.
In august 1997, seen the little information about LQTS, my daughter and myself decided to create an Association to learn more about LQTS and come in contact with others who are sick with LQTS. In creating this Association, we informed some hospitals and abnormality heart associations and genetic studies of our initiative, but we have never had contact. That's when we had the idea to create a website through the Internet thanks to a friend who created us the website during the month of november 1998. My daughter takes care of answering the e-mails. About 15 days later we received our first e-mail of a boy the same age of my daughter. The website of this boy whose the name is Jon Mettler is the European Center of LQTS. Thanks to Jon we have more information about LQTS.
Around January 15,1999 on Jon Mettler's advice we wrote to Professor Peter SCHWARTZ to the "Policlinico San Matteo" in Pavia in Italia. Jon Mettler's web site is supported by Professor Schwartz. A few days later the Professor answered to us personally. After having exchanged several message for information on both sides, the Professor arranged to meet on february 25 in Pavia.
When we arrived to Pavia on the 25, testing was done. The stay at the hospital lasted 24 hours. The staff was very competent and a great simplicity. After having told our family story to the Professor he explained to us that after having seen the results of testing(ECG and Holter) for our case and seen history of our family there was only one solution. Like we could not take beta-blockers, the solution was the surgery, that is to say " the Left Cardiac Sympathetic Denervation". For my daughter this news was a shock, she was ready for anything except that. We remained two months to think about it. At last we made the decision to do this operation. The date of surgery was for on April 27 in pavia. For us that was the adventure furthermore not speaking the language.
On sunday April 25 we were in Pavia at the "Policlinico San Matteo". The surgery was to be done on thursday April 27 for the two of us. The surgery has turned out well. We left the "Policlinico San Matteo" on Friday at midday. After the surgery there were pains like in all surgeries. My daughter suffered during the next four months. Pains have been very strong above all during the first three weeks. She has had a paralysis of the left arm during more than one month. During the next two months she had period rehabilitation. Currently She has found again to 90% the mobility of her arm. A few little pains continue but bearable entirely. Personally I did not have all these problems. I only suffer during a little more a month. I did not have a paralysis of my arm. Currently I have no more pains.It is important to note this paralysis is rare. As side-effects as Professor Schwartz has told us, we have the left hand who is warmer and drier but that is not a handicap. The left eyelid is sank down, but for my daughter it is very light and not annoying.
Sympathectomy reduces the QT space but does not provide more safety than beta-blocking medicines. Medical literature suggests this surgery for about 5% of patients affected by the long QT syndrome. This concerns mainly people for which beta-blocking medicines are not recommended or not well tolerated. For specific cases, it may be used as second or third therapy.
What is the situation more than three years after surgery?
I often have malaises and arrhythmias. In 1999, Professor Schwartz was thinking of implanting a defibrillator but, at this time, I do not feel capable of enduring this surgery. My first priority is my daughter's health.
My activities are very limited. I cannot travel for more that twenty-five or thirty kilometers and, some days, it is even too much. I must deal with vertigos and other difficulties.
You cannot say that it is possible to live normally with the long QT syndrome: it eats your life day after day. I am sorry that doctors do not deal with the disabling physical and psychological side of fainting spells. A fainting spell, a heart pause or stoppage are debilitating, even if you recover.
You cannot erase the traces from thirty years of struggle and suffering. This story does not cover all that I had to endure even if, initially, I was hoping to include everything. I leave to my daughter the opportunity to tell her own the story of her experience following the surgery.
Between the 1999 surgery and now in 2002, I still had malaises. I have had, on average, one episode per month following tachycardia (pulse rate too fast) but mostly bradycardia (pulse rate too slow) that violently drop my pulse in few seconds. My pulse could stay low for few days, weeks, or, even, a full month before returning to normal.
Since July 2002, I have repeated episodes of bradycardia. The interval between those events is becoming shorter and the events are more intense. I do not recover from one to the other. I am constantly tired and any small effort lowers my pulse rate even more. I cannot drive since July and I am afraid of traveling by car as, often, it initiates an event. I need help, on a permanent basis, to assist me to accomplish routine tasks such as cleaning, ironing, grocery shopping, etc… I am not living anymore, only surviving. Being dependant on others, not being able to do anything, not being able to go outside is not a life at 28! It is a daily nightmare looking for improvements that never come!
I do not work at this time and have been covered by the COTOREP (government department taking care of handicapped people) for a few years. I have been recognized as "unable to work".
As I could not continue like that, I did everything to get my condition taken seriously. Following a number of Holter tests and consulting cardiologists that were not taking any decision, someone suggested that I consult a rhythmologist (specialist of the cardiac rhythm) and I went to see one. It was there, at last, that my situation was taken seriously and that it was decided that something had to be done. Following consultations with peers, the rhythmologist suggested to implant a REVEAL PLUS as he was not too sure of what would be best: a pacemaker/defibrillator or a single pacemaker. I did agree after thinking about it. The surgery was done on December 4, 2002.
A REVEAL PLUS is essentially an implantable Holter. The size is six by two cm. with a thickness of eight millimeter. I will keep it between fourteen and seventeen months depending of the battery. This instrument can be programmed and start to record arrhythmias and malaises according the program parameters. This instrument is meant ONLY to record data and is not intended to improve the conditions due to symptoms of the long QT syndrome. Hopefully, the rhythmologist will be able to use the results to establish a treatment. No treatment has been decided upon at this point. I will follow up on Internet.
We hope that readers will notice our story. Describing symptoms can be very important so people can recognize their own or their relatives' and succeed in being correctly diagnosed.
This is our story but I think, unfortunately, that other families, in France or other parts of the world, are enduring or have endured similar or even worse circumstances.
I am anxious to thank Kerri Sheets for her help for the english part of our story. Thank you very much Kerri.
I also want to thank Etienne for his help for the translation.
Last update 11/30/2004
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| AAAAA
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Not all pt can take beta blockers !
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| AAAAA
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I recommend pt to use a small surgical knife to cut the metoprolol into very small piece and take as low dose as possible and then increase slowly
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| AAAAA
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What is the DOC drug of choice if the patient can not tolerate beta-blocker as told in the above story !
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