STOCKHOLM — A policy of ECG screening of all neonates is a highly cost-effective means of detecting potentially lethal yet treatable genetic arrhythmogenic disorders, according to an interim analysis of an ongoing 50,000-infant Italian prospective study.
Such a screening strategy also provides several major side benefits. It permits early identification of babies with congenital heart malformations while they are still asymptomatic, when surgical correction can often markedly improve prognosis.
And identification of long QT syndrome (LQTS) in a screened neonate often leads to a previously unsuspected diagnosis of the arrhythmogenic genetic disorder in one or more asymptomatic family members, allowing physicians to institute timely prophylactic therapy, Dr. Marco Stramba-Badiale said at the annual congress of the European Society of Cardiology.
He reported on the first 36,263 babies who underwent ECG screening during day 15-25 of life as part of an ongoing 50,000-infant study funded by the Italian Ministry of Health.
In a separate presentation at the congress, Dr. Peter J. Schwartz, the project's coordinator, said that on the basis of data from this and other studies, the estimated cost-effectiveness of routine ECG screening of all neonates is $8,254 per year of life saved.
Even after the analysis is tweaked by plus-or-minus 30% in terms of diagnostic yield and treatment efficacy, the cost per year of life saved remained within the range of $4,800-$18,000.
“These figures do not consider the uniquely tragic emotional trauma [caused by] the sudden death of a child. Thus, screening with ECG every infant born in a large European country is highly cost effective. European taxpayers should be informed about the cost-benefit ratio of neonatal ECG screening,” said Dr. Schwartz, professor and chairman of the department of cardiology at the University of Pavia (Italy) and chief of the coronary care unit at the San Matteo Polyclinic, Pavia.
The rationale for routine neonatal ECG screening is that LQTS is an important cause of sudden death beginning as early as the first year of life. Recent genetic studies by Dr. Schwartz and coworkers indicate that roughly 12% of all cases labeled as sudden infant death syndrome are actually attributable to LQTS, which is a highly treatable disorder. First-line therapy is a ?-blocker, typically propranolol at 2 mg/kg per day. Second-line therapy, reserved for the minority of patients whose QT intervals are not successfully shortened below the danger zone by medication, is an implantable cardioverter defibrillator, he said.
Also at the meeting, Dr. Schwartz was named a corecipient of the Arrigo Recordati International Prize for Scientific Research. He shares the $120,000 prize with Dr. Leonard A. Cobb of the University of Washington, Seattle, and Dr. Hein J.J. Wellens of the University of Maastricht (the Netherlands). The three cardiologists were honored for their lifetime achievements in the field of sudden cardiac death.
Dr. Stramba-Badiale said that to date in the ongoing study, the prevalence of LQTS as defined by a QTc of at least 470 milliseconds—that is, more than two standard deviations above the population mean—is 0.9/1,000 screened neonates. In the study protocol, 470 milliseconds is also the threshold for performing genetic analysis, which has shown that 53% of affected babies have one of the known LQTS genetic mutations. One case involved a sporadic mutation. The others led to the previously unsuspected diagnosis of LQTS in additional family members.
Another 1.3% of neonates had a QTc greater than 440 but less than 470 milliseconds.
European Society of Cardiology guidelines recommend treatment of such children if they have a family history of LQTS or other serious arrhythmias.
Other cardiac abnormalities detected through the screening program included a 0.4/1,000 prevalence of Wolff-Parkinson-White syndrome, a 0.3/1,000 rate of right bundle branch block, and a 1/1,000 prevalence of atrial septal defect, all in asymptomatic babies.
There were also four still-asymptomatic cases of coarctation of the aorta, three of which featured cardiac involvement and one marked by anomalous origin of the left coronary artery, added Dr. Stramba-Badiale of the Istituto Auxologico Italiano, Milan.
Dr. Stramba-Badiale and Dr. Schwartz are members of a European Society of Cardiology task force charged with developing guidelines for interpretation of neonatal ECGs, since most cardiologists who care for adults are unfamiliar with doing so.