The study of familial heart disease is crucial, both in children and in the elderly, since they are often present in apparently healthy individuals and in whom, unfortunately, sudden cardiac death (SCD) may be the first manifestation of the disease.
Sudden death (SD) is defined as an unexpected death, which occurs within the first hour after the onset of symptoms or occurs within 24 hours after the victim was last seen in good health. Is it an inherited heart disease? We explain what types of heart disease a child can inherit.
In children, we must consider two main types of hereditary diseases with direct cardiac involvement:
1. Structural heart disease (cardiomyopathies).
2. Arrhythmogenic (channelopathies).
Currently, more than 100 genes are known to be involved in diseases associated with sudden cardiac death. Most of the mutations in these genes are transmitted with an autosomal dominant inheritance pattern (descendants have a 50% chance of possessing the mutation and developing the disease).
The future lies precisely in the development of the so-called cardiogenetics, since its progress will allow us to know the molecular bases of sudden cardiac death, as well as to identify asymptomatic family members at risk.
It is essential to study children with a family history of serious arrhythmias and children with a family history of sudden death in the pediatric cardiology clinic. In them it is indicated to make a routine cardiological evaluation (ultrasound of the heart, electrocardiogram); and in certain cases, a genetic study.
The purpose could not be more important: to manage a pharmacological treatment or an appropriate measure (for example: a pacemaker or defibrillator) to ensure the survival of the child.
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