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HOW IS LONG QT SYNDROME DIAGNOSED?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The diagnosis is commonly suspected or made from the electrocardiogram (ECG). All children and young adults should have an ECG as part of their evaluation for an unexplained loss of consciousness episode. On the other hand, there is the possibility to check blood samples for known gene mutations that cause LQTS.
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WHAT IS THE LONG QT SYNDROME (LQTS)?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The long QT syndrome (LQTS) is causing an abnormality of the heart's electrical system. The mechanical function of the heart is entirely normal. The electrical problem is due to defects in heart muscle cell structures called ion channels. These electrical defects predispose affected persons to a very fast heart rhythm (arrhythmia) called "Torsade de Pointes" (TdP) which leads to sudden loss of consciousness (syncope) and may cause sudden cardiac death.
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WHY IS THE DISEASE NAMED LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The name of the long QT syndrome refers to the QT-interval measured on the electrocardiogram (ECG or EKG for the German term "Elektrokardiogramm"). Your specialist may refer to long QT syndrome as Romano-Ward syndrome or Jervell, Lange-Nielsen syndrome (see point 3).
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WHAT DOES MEDICINE KNOW ABOUT LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
INHERITED: Inherited long QT syndrome was first clearly described in 1957. There are two variants, the autosomal dominant Romano-Ward (named by the doctors who first described the disease, O. Connor Ward and C. Romano) type and the autosomal recessive Jervell, Lange-Nielsen (Doctors A. Jervell, F. Lange-Nielsen) type. Inherited long QT syndrome is caused by mutations of at least 9 genes, and possibly more. Five different genes have so far been found.
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HOW COMMON IS INHERITED LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The frequency is unknown but it appears to be a common cause of sudden and unexplained death in children and young adults. It is certainly much more common than previously thought. It may be as frequent as 1 in 5000 to 7000. This means, one of 5000 to 7000 newborns have the disease. The Jervell, Lange-Nielsen form is rare, but the Romano-Ward variant is being recognized with increasing frequency. In the USA, the presence of long QT syndrome is estimated to affect about 50.
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IS LONG QT SYNDROME ALWAYS OBVIOUS ON THE ECG?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
It is generally estimated that approximately 10% to 12% of all patients with long QT syndrome show a normal QT-interval on their ECG. However, this does not mean that these patients are not affected by long QT syndrome. In such cases, a more profound evaluation is needed.
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CAN HEAT BE A TRIGGER IN LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
It has been noticed that several cardiac arrests occur during summer time. But it is not sure if it this may be an excess in statistical terms. It is however hard to define if these cardiac arrests are related to a specific "risk" due to heat or sweating or if it is mainly a reflection of increased physical activity, excitement and playing during the summer.
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CAN PREGNANCY BE A TRIGGER IN LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The 9-month interval during pregnancy and the delivery itself are not associated with an increased occurrence of heart events in any of the LQTS women. However, it appears that the physical and emotional stress during the 9-month period after pregnancy (the postpartum period) may be a factor in triggering heart rhythm disorders in some vulnerable women with LQTS.
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CAN AN AUTOPSY REVEAL LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
There are two ways to make a diagnosis for QT syndrome. The first is to check if the QT-interval on the ECG of a suspected patient is prolonged. Because the heart stopps beating when death occurs, this possbility is out of question - except an ECG of the dead person already exists, of course. The only possibility would be to check body fluids of the dead person - in this case blood - for the known gene mutations that cause QT syndrome.
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ARE THERE GENDER DIFFERENCES IN LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
Studies show there are significant gender differences in genotyped LQTS patients relative to age of first episode, syncope, cardiac arrest and sudden death. Males seem to have a higher risk of cardiac events (meaning syncope or blackout spells, cardiac arrest and sudden death) during childhood (with an average earlier age of onset in males at 8 years old vs.14 years in females), through puberty. Studies reveal females have an increased risk relative to males during adulthood.
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DO GENERIC BRANDS OF BETA BLOCKERS ALSO PROVIDE A COMPLETE PROTECTION AGAINST LONG QT SYNDROME?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
Most of the studies in the medical literature confirm that no major differences exist between brand and generic drugs. However it is fair to recognize that occasional reports have raised concern that certain generic brands may be less effective than brand name products (see: Cervera Barba EJ. [Increase of arterial pressure caused by generic atenolol] Aten Primaria. 2001 Feb 15;27(2):146-8).
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How is irritable bowel syndrome diagnosed?

Health Information
Your child's physician will obtain a thorough medical history, perform a full physical examination, and obtain screening laboratories to assess for infection and inflammation. The laboratory tests, imaging studies, and procedures to be performed will be dictated by the history and physical examination.
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How is restless legs syndrome diagnosed?

Restless Legs Syndrome (RLS), SVCMC; New York NY
Restless legs syndrome is diagnosed primarily through a doctor's evaluation of your symptoms. Sometimes a sleep study called a polysomnography is done to record the number of involuntary body movements you make that interfere with your sleep. You may have other tests, such as blood tests, to rule out other conditions that can cause your symptoms.
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How Is Cushing's Syndrome Diagnosed?

Diagnosis is based on a review of the patient's medical history, physical examination and laboratory tests. Often x-ray exams of the adrenal or pituitary glands are useful for locating tumors. These tests help to determine if excess levels of cortisol are present and why. Hour Urinary Free Cortisol Level This is the most specific diagnostic test. The patient's urine is collected over a 24-hour period and tested for the amount of cortisol.
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How are autism and Asperger Syndrome diagnosed, and who can make a diagnosis?

Frequently Asked Questions - AASCEND
Currently, no single medical test exists that will definitively diagnose autism spectrum conditions. Neither AS nor autism can be diagnosed by looking at a blood sample or performing a brain scan. Although these are physical, neurological conditions, researchers are still looking for genetic or other physical causes that may lead to a definitive test. Short of this, the diagnosis is made on the basis of observable characteristics of the individual.
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MUSC Children's Hospital - Down Syndrome Center
Since Down syndrome is such a unique group of characteristics, physicians can sometimes determine simply by physical examination whether a baby has Down syndrome. To confirm the physical findings, a small blood sample can be taken and the chromosomes can be analyzed to determine the presence of an extra #21 chromosome. This information is important in determining the risk in future pregnancies. (Translocation Down syndrome and mosaic Down syndrome have different recurrence risks).
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How is carpal tunnel syndrome diagnosed?

Carpal Tunnel Syndrome, SVCMC; New York NY
Carpal tunnel syndrome is diagnosed based on your medical history, a physical exam, and sometimes further tests. While learning about your medical history, your health professional will want to know about health conditions you have, such as arthritis, hypothyroidism, diabetes, or pregnancy. He or she will ask about any accidents or injuries of the wrist, arm, or neck you may have had recently.
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QUESTION: How long have you been diagnosed with Asperger Syndrome?

Frequently Asked Questions
ANSWER: I can't remember the exact date, but I believe it was circa 1996. I just popped down the road to the local autism office and Bob's your uncle, a diagnosis was more or less made there and then. An autism diagnosis in the family was also made a year prior to this for my nephew, which triggered off the reason for getting diagnosed myself. Whether you were diagnosed last Tuesday or way back in 1958 it does not have much difference as long as you have been diagnosed.
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WHAT IS THE QT-INTERVAL?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
The duration of the QT-interval is a measure of the time required for depolarization and repolarization to occur. In long QT syndrome, the duration of repolarization is longer than normal. Thus, the QT-interval is prolonged. An interval above 440 milliseconds (msec) is considered prolonged. QT-prolongation in is due to overload of myocardial cells with positively charged ions during ventricular repolarization.
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WHAT IS BORDERLINE QT?

QTsyndrome.ch - Frequently Asked Questions (FAQ)
to 470 milliseconds is considered borderline. The average QTc for someone who has long-QT syndrome is 490 milliseconds. A QTc at or above 480 milliseconds in females or 470 milliseconds in males, is probably a sign for long-QT syndrome, in the absence of drugs, electrolyte disturbance, or other conditions that might independently lengthen the QT-interval.
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What is my child's prognosis now that the moyamoya syndrome has been diagnosed?

Frequently asked Questions - Moyamoya Syndrome - Clinical Se...
Our data suggest that the patient's prognosis is very definitely linked to clinical status at the time the diagnosis is first made and when surgical treatment is instituted. Many of the authors who write about moyamoya link prognosis to age at diagnosis, but I don't believe that this indicator is a strictly accurate one.
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How is Adult GH deficiency syndrome diagnosed?

GH deficiency in adults occurs because of some type of injury to the pituitary gland. Injury usually can occur because of the presence of a pituitary tumor, or pituitary surgery or pituitary irradiation. It can also be caused by trauma to the gland or, very rarely, inflammation. The cause is usually quite obvious to the endocrinologist physician, who will consider the diagnosis of GH deficiency in patients with known pituitary damage.
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How is TTTS (Twin-to-Twin Transfusion Syndrome) Diagnosed?

TTTS FAQ: Frequently Asked Questions about Twin-to-Twin Tran...
Find the answers to frequently asked questions about Twin-to-Twin Transfusion Syndrome in this FAQ about TTTS.
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How is Reye syndrome diagnosed?

Texas Department of State Health Services, Infectious Diseas...
Diagnosis is done based on medical symptoms rather than laboratory results. Reye syndrome can be misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, Sudden Infant Death, or psychiatric illness.
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Where can I find Qt?

toolkit - FAQ
The latest version of Qt can be downloaded from http://www.troll.no or from ftp.troll.no, and a whole range of ftp mirror sites around the world. Look for a mirror near you on the list available under http://www.troll.no/dl/
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How is Sjögren's syndrome diagnosed?

Sjögren's Syndrome, SVCMC; New York NY
Your health professional may diagnose Sjögren's syndrome after taking your medical history, doing a physical examination, and noting symptoms of dry eyes and mouth. Next, he or she will ask whether you are taking any medications such as antihistamines or antidepressants that could cause dry eyes and mouth. If needed, your health professional may order tests for tear flow, eye damage, saliva production, tissue damage, and blood antibodies to confirm a diagnosis of Sjögren's syndrome.
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