| Author | Message | ||
     George Martin |
My grandson died in January of LQT. His aunt on his father's side has been diagnosed with LQT and has had a pacemaker implanted. Is genetic LQT recessive or dominant. Should I have concern for family members on this side of the family? | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
In most cases it is dominant. There is a rare entity called Jerwell-Lange-Nielsens syndrome associated with deafmuteness, which are recessive. | ||
| Cliff |
Today we have results back showing a very likely mutation in LQT1 but possibly LQT2 too. Further tests on extended family will hopefully clarify whether LQT2 really is involved. Are there any previous examples of both genes being involved ? | ||
| debbie |
Good question cliff my sister and I have asked our doctor that as well we had mayo try to find our gene but with no luck. We thought that we had the LQT3 since it happens mostly in our sleep. But we also thought that maybe we could have LQT 2 also. He said that he didn't think that you could have 2 but he said that he couldn't rule it out either. He just didn't know. | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
It is not extremely seldom to see more than one mutation. We have actually in one patient seen 4 mutations. The problem is that even healthy subjects have mutations. Ackerman showed that nearly 1 out of 10 had mutations. Their location in the gene makes is possible that they doesnt matter, but no one knows for sure. It shows that DNA analysis could not stand alone but has to be evaluated with the clinical history. It seems that your results are preliminary, since your doctors say maybe. Wait to see the final results and let your doctor examine yoiur family. The gene mutation which matters is normally associated with QT prolongation or T-wave morphology changes and symptoms. That would give a hint which mutation that matters. Furthermore there is a extensive scientific publication on the clinical picture of known specific mutations, and your doctor could learn of others experience. In conclusion get the whole information of the mutation (it would look like LQT1 A340L for example telling which amino acid is changed ) and then your doctor could decide what matters. Maybe both matters, maybe only the combination. | ||
| Jmac |
Dr Kanters: My mother died 10 years ago, doctors have no records left. Hospital could only find one EKG. Her QT read as 496, corrected of 520. It also said possible left anterior infarction. She had had multiple strokes, but no one ever said anything about heart attack. Would this be anything that would show LQT in family history or is it normal to prolong QT on something like this? I don't want to give this to my doctor is unnecessary info. JMac | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
Its a long QT interval. It could be due to other heart disease for example a silent myocardial infarction. It is always wise to present all information to your doctor, and let him decide what to use or not. | ||
| lopezgavy |
Dr. Kanters, I have long QT syndrome, but I am not taking any medications right now, so my doctor said I was all right. My concern is that if I ever have any children will they inherit the syndrome? Also I have no idea of how I got this syndrome since both my parent and my two brothers have taken an electrocardiogram and they are fine. | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
If you have inherited Long QT syndrome (and not all with a prolonged QT inteval have inherited Long QT syndrome), your children will inherit the disease. If you have inherited LQTS and your parents ECG are normal, there could be two explanations. Either the genetic change happened after or during conception (a socalled de novo mutation) or your father or mother have silent QT. Ten percent of all LQTS patients have a normal QTc interval which make the diagnosis very difficult, and could best be maded with genetic testing. | ||
| Joyce Willaims |
I have long QT2 syndrome which has been confirmed genetically through blood test's(I have an ICDF implant)My daughter aged 20 has also had EKG and her blood also checked and she is clear.Will she always stay clear and will there be no chance of her developing it in the future?I know it is 50-50 to inherit this gene as I now know that this was likely that took my son aged 19,We were always told he had epilepsy(which i always debated about)My brother also lost his son aged 24,also told epilepsy and his daughter who is 22 has been diagnosed with long QT2 since.I would just like to know that my daughter will always stay clear and will not some way develope it in future despite being given the all clear with DNA. Thank you Dr.Kanters | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
If your daughter is tested and found not having your mutation, she will never develop it | ||
| DEV |
Was there any evolutionary advantage for people who had these genes? Or was it nature's effort at culling? im sorry to use this language and apologies to all. | ||
| Joyce Williams |
To DEV I find your post very offensive and ridiculous. | ||
| robclaus |
It's a legitimate question. Some genes simultaneously protect against one condition and put the carrier at risk for another one. Genetics is complicated. | ||
| Dr. Jorgen Kanters Username: Jorgen Registered: 08-2003 |
Another inherited disease is Cystic fibrosis, which is a respiratory disease destroying the lungs. Cystic Fibrosis is one of the most common inherited diseases, and one of the reasons is that cystic fibrosis protects somehow against diarrhoe. In earlier days diarrhoe was a common reason for mortality, giving carriers of the gene an advantage, especially because two genes were neccesary for development of lung disease (reccisive disorder). Long QT syndrome is rare but not so rare. We dont know much about any advantages of LQTS, but they probably are there unrevealed. A qualified guess could be that a prolonged QT interval could protect against some form of arrhythmias (but not the arrhythmias seen in LQTS) like atrial fibrillation. | ||
| Bionic Roadrunner |
Strange defense system that might protect me against a certain type of arrhythmia, but gives me ventricular fibrillations, the most lethal one...  A no win situation! May be it is just a "manufacturing" defect that does not serve any purpose? It just happens... So much to learn and understand... | ||
| Roseofsheryn |
I am wondering if this could be what is wrong with my daughter. She is now 21 but she started having problems when she was 10 or younger. A Dr found she has slight mitral valve prolapse but they say she shouold not have symptoms because it is so slight. She has chest pains and within moments she passes out. Her heart races and they have said it is panic attacks at times then disprove that. She has been brought by ambulance a few times to the ER with a highly elevated heart rate. They run the quick ekg and say she is fine just heart beat is too fast. Can never find the problem. She went to a cardiologist when she was 17 and he said he didnt know what it was but that he hopes it doesnt kill her some day and gave up trying to figure it out. When she was young around 10 or so she was put on beta blockers for the mitral valve prolapse though they didnt think it would help cause it wasnt bad enough but she stopped having episodes. She cant find a Dr. that will perscribe them to her now. (small town) Noone can figure her out ...could this be Long QT? What tests does she need to ask for if so? How can one find a Dr in their local area that could do those tests? | ||
| Roseofsheryn |
I forgot to ask about if pain is a symptom and also during these episodes she tends to have some breathing issues. She has never had to have CPR or assisted breathing other than oxygen in the ambulance or ER. Even if this in not what is wrong with her at least we now know why she passes out when her heart rate goes so high. I do hope this is acceptable to ask this stuff on this forum. |