Background: Sudden death of a newborn is a rare entity, which may be caused by genetic
cardiac arrhythmias. Among these diseases, Long QT syndrome is the most prevalent arrhythmia
in neonates, but other diseases such as Brugada syndrome, Short QT syndrome and
Catecholaminergic Polymorphic Ventricular Tachycardia also cause sudden death in infants. All
these entities are characterized by well-known alterations in the electrocardiogram and the first
symptom of the disease may be an unexpected death. Despite the low prevalence of these diseases,
the performance of an electrocardiogram in the first hours or days after birth could help identify
these electrical disruptions and adopt preventive measures. In recent years, there has been an important
impulse by some experts in the scientific community towards the initiation of a newborn
electrocardiogram-screening program, for the detection of these electrocardiographic abnormalities.
In addition, the use of genetic analysis in neonates could identify the cause of these heart alterations.
Identification of relatives carrying the genetic alteration associated with the disease allows
adoption of measures to prevent lethal episodes.
Conclusion: Recent technological advances enable a comprehensive genetic screening of a large
number of genes in a cost-effective way. However, the interpretation of genetic data and its translation
into clinical practice are the main challenges for cardiologists and geneticists. However, there
is important controversy as to the clinical value, and cost-effectiveness of the use of electrocardiogram
as well as of genetic testing to detect these cases. Our review focuses on these current matters