Italian heart specialists are calling on health care providers throughout Europe to give urgent consideration to introducing ECG screening for all babies at around three to four weeks of age to pick up a life-threatening genetic condition called long QT syndrome.
Evidence they have gathered from ECGs in a just completed and still unpublished prospective study of 45,000 infants, coupled with a cost-effectiveness analysis, has demonstrated that significant numbers of sudden deaths could be prevented for less than €12,000 per year-of-life saved.
The findings from the cost analysis study are published on-line today (Thursday 13 July) in European Heart Journal, journal of the European Society of Cardiology.
The study, led by Professor Peter J. Schwartz of the University of Pavia and IRCCS Policlinico San Matteo, focused on the inherited condition long QT syndrome (LQTS), a disorder of the electrical rhythm of the heart. It rarely produces symptoms but is a leading cause of sudden death in children and young adults, and when it occurs in infants their deaths are usually mislabelled as sudden infant death syndrome (SIDS).
In fact, Professor Schwartz and associates have recently completed a study on over 200 victims of SIDS from Norway and have found genetic mutations diagnostic for long QT syndrome in almost 10%. This indicates that early treatment of LQTS would also prevent some deaths regarded as SIDS because, once detected, it can be successfully treated in most cases with medication by beta-blockers, or occasionally by sympathetic denervation or the use of implantable defibrillators.
Although the focus of the 45,000-infant study was to identify babies with LQTS, the research also unexpectedly revealed four cases involving two other life-threatening heart conditions – coarctation of the aorta and anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) – which had gone undetected in initial neonatal checks. This finding led directly to the researchers extending their cost-effectiveness analysis to include these two congenital heart diseases.
Professor Schwartz, who is chairman of the department of cardiology, said: “Our study clearly demonstrates that neonatal ECG screening is highly cost-effective and that a significant number of lives can be saved – possibly up to 230-250 a year, for example, in the 15 countries of the pre-enlarged EU – for an objectively small cost. The time is ripe for those involved in the administration of public health to consider the implementation by the National Health Services of such a programme, with the objective of reducing the number of preventable sudden cardiac deaths in infants, children and young adults.”
He said that although there could be some differences in specific costs in different countries, their calculation for its introduction in Italy varied all probabilities and costs by plus or minus 30% so as to be valid for most European countries.
There have been various estimates in the medical literature in the past about the prevalence of LQTS, with figures ranging from one in 5,000 to one in 20,000, but none was based on actual data. The Pavia team’s research is the first large prospective study on an unselected population. They performed ECG between days 15 and 25 in 45,000 babies and found a markedly prolonged QT interval in almost one in 1,000 (0.9). In more than 50% of these infants Professor Schwartz has identified gene mutations responsible for LQTS. “Therefore this means that the prevalence is probably around one in 2,500 – higher than previous estimates,” he said.
“The cost per year-of-life saved by identifying and treating LQTS is really very low – €11,740: for saving one entire life of 70 years we are looking at just €820,000. When, to account for what happens in the real world, we also consider the two other congenital heart diseases that routine ECG screening can pick up, then the cost per year-of-life saved is only just over €7,000 or around €490,000 over a 70-year lifetime.”
He said that 220 out of 550,000 newborns per year (in Italy) are affected by LQTS. Without screening 13.5% (30) would die early. But screening would cut this to 3.2% (7), saving 23 lives a year. Additionally, screening would prevent four more deaths due to the two congenital heart diseases. In total therefore, screening in Italy would save an estimated 27 lives a year from the three conditions combined.
Professor Schwartz outlined the potential clinical benefits of screening for LQTS:•we can treat the baby, protecting it from life-threatening arrhythmias, thus reducing deaths in childhood and later years as well;
•in addition, our unexpected finding of these two other conditions means we have an opportunity to pick up the few, but life-threatening cases of congenital heart diseases that might escape routine medical checks, for which surgery can radically change the prognosis.
“Parents of a newborn child have the right to know about the existence of an uncommon disease, which is potentially lethal but for which effective and safe treatments exist, and which can be diagnosed by a simple ECG. European citizens and taxpayers also need to be informed about what is possible to do, and at what cost, to reduce the tragic burden of sudden deaths in the young,” Professor Schwartz concluded.
Cost effectiveness of neonatal ECG screening for the long QT syndrome. European Heart Journal. doi:10.1093/eurheartj/ehl115.
Long QT syndrome (LQTS): an infrequent hereditary disorder of the heart’s electrical rhythm. When the heart contracts it emits an electrical signal that can be recorded on an electrocardiogram (ECG) and produces a characteristic waveform, designated by letters – P, Q, R, S and T. The Q–T interval represents the time for electrical activation and inactivation of the ventricles, the heart’s lower chambers. If the interval is longer than normal it is called prolonged Q–T interval and people with this syndrome are susceptible – especially during physical or emotional stress, but also during sleep – to an abnormally rapid and irregular heart rhythm called Torsade des pointes. When this occurs, the heart muscle cannot contract effectively and the normal volume of blood to the body and brain is reduced. If the heart does not regain its normal rhythm quickly, the condition will deteriorate into ventricular fibrillation, an extremely rapid rhythm during which blood pressure falls to zero and, without emergency treatment, sudden death occurs.
Sympathetic denervation: A surgical intervention, lasting 35-40 minutes, performed through a small incision at the base of the neck without opening the chest. It interrupts the major nerves (left cardiac sympathetic nerves) connecting the brain to the heart. This surgery is very effective in preventing life-threatening arrhythmias due to physical or emotional stress.
Coarctation of the aorta: narrowing of the aorta between the upper-body artery branches and the branches to the lower body. ALCAPA: anomalous left coronary artery occurs when the left coronary artery arises from the pulmonary artery instead of its usual site of origin, the aorta.
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