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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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).

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.

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.

The time it takes to perform an autopsy depends on the presence and nature of natural disease and/or injury. Autopsies average a couple of hours.

autopsy is a systematized examination of a body to determine the cause and manner of death and to assess any pathologic changes that may be present. The body is examined both externally and internally in order to discover and document disease or injury, following review of the medical history. Specimens of internal organs are retained for microscopic examination and body fluids are obtained and tested for drugs and alcohol.

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/

Many families are surprised (and angered) to find out that an autopsy report will not be ready for anywhere between 3 and 14 months. The actual autopsy may only take a few hours, but the report is comprised of information that may take months to get back. One example is the toxicology report. There are no forensically accredited toxicology laboratories in the Hamilton County-Chattanooga area, and therefore all samples must be sent out.