Evaluation of Genetic-molecular Causes of Out-of-Hospital Cardiac Arrest: From Patients to Families

Condition(s) studied

Study summary

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.

Eligibility

Primary outcome measure(s)

• Prevalence of pathogenic/likely-pathogenic variants — December 2027
  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

Trial sites (1)

More Fondazione IRCCS Policlinico San Matteo di Pavia trials in Italy

Other trials for the same condition