The aims are to define the exact prevalence of hereditary heart diseases in out-of-hospital cardiac arrest (OHCA) patients taking also into account gender, patient and OHCA characteristics, provincial settings and environmental pollution; to stratify the individualized arrhythmic risk of proband's family members to prevent further sudden cardiac deaths; to refine the classification of the variants of uncertain significance (VUS) on genes which can have the capability to drive to molecular alterations leading to arrhythmogenic hereditary heart diseases. A blood sample will be obtained during resuscitation from all the patients aged ≤50 years suffering an OHCA in Lombardy Region and then analysed for genetic variants possibly causative of cardiac diseases. Genetic data will be merged with patient, OHCA and post-resuscitation data thanks to the connection with LombardiaCARe, whilst pollution data will be retrieved from ARPA Lombardia for free. A genetic counselling and clinical-instrumental evaluation of the proband's first-degree family members will be performed if a pathogenic/likely pathogenic variant or a VUS will be disclosed during the genetic analysis.
All the patients suffering from OHCA of medical etiology in Lombardy Region ≤50 years, for whom resuscitation manoeuvres was started by EMS (AREU)
Patients under 18 years old
Patients with a non-medical cause of the cardiac arrest
All the patients suffering from OHCA of medical etiology in Lombardy Region ≤50 years, for whom resuscitation manoeuvres was started by EMS (AREU)
Case-only
Prospective
Not listed
Prevalence of pathogenic/likely-pathogenic variants
Percentage of patients with pathogenic/likely-pathogenic variants or with variants of unknown significance (VUS) as defined by ACMG guidelines out of the total number of patients analysed
Difference in prevalence according to different provinces
To evaluate whether the prevalence of inherited arrhythmogenic or structural cardiac diseases differs across the provinces of the Lombardy Region among patients aged ≤50 years with medically caused OHCA
Difference in prevalence according to the initial rhythm
To assess whether the prevalence of inherited arrhythmogenic or structural cardiac diseases differs according to the first documented cardiac rhythm (shockable vs. non-shockable)
Difference in prevalence across the various patient subgroups suggested by the Utstein recommendations and according to sex and level of pollutants
To investigate differences in the prevalence of inherited arrhythmogenic or structural cardiac diseases according to Utstein-recommended patient subgroups (witnessed shockable rhythm, shockable rhythm with bystander-initiated cardiopulmonary resuscitation, and witnessed non-shockable rhythm), as well as according to patient sex and levels of ambient air pollution in the area where the cardiac arrest occurred
Difference in treatment and survival in patients with and without variants
To compare treatment characteristics and survival to hospital arrival between patients in whom a pathogenic or likely pathogenic variant associated with inherited arrhythmogenic or structural cardiac disease is identified and those in whom no such variant is detected
Click on the lead sponsor to view all of their trials.
