Cardiac channelopathies such as Long QT, CPVT and Brugada Syndrome, and some cardiomyopathies such as HCM, ARVC, Familial DCM and LVNC are all familial, with over 90% of cases inherited in an autosomal dominant fashion, meaning that 50% of first-degree relatives are potentially at risk.
There is now good evidence that people with these conditions can benefit from interventions such as β-blockade and cardio-verter defibrillators, therefore identification of affected family members is potentially life-saving. Cardiological and genetic investigation of the relatives of young victims of sudden death can reveal an inherited heart disease in 40% of cases.
Predominately the cause of sudden cardiac death in young people (under the age of 35 years) is secondary to cardiac inherited diseases. The Cardiac Inherited Disease Group investigate causes of Sudden Cardiac Death in Young People (under the age of around 45 years) with negative autopsy or a finding of a cardiomyopathy during autopsy.
If you have a case of a young person dying with a negative autopsy or a finding of a cardiomyopathy we would like you to save blood or tissue samples which may be used for molecular autopsy in the future and then refer the case to us for ongoing family investigation (see below for referral forms).
We would initially discuss each referral at a CIDG multi disciplinary meeting. Taking into account the circumstances surrounding the death and the pathology findings we would then decide if the death was suspicious of a cardiac inherited disease. If we felt that a cardiac inherited disease could have led to this young person’s death (or this was an incidental finding of a cardiomyopathy was established at post mortem) the local CIDG coordinator would then make contact with the family with a view to arranging family investigations and a clinical appointment at a specialist clinic with cardiologists and/or paediatricians and genetic specialists. If possible, this will be done locally so the family doesn’t have to travel. It is helpful if a number of family members can come at the same time.
At this clinic we would go over the post-mortem findings, take a family history, and ask for any further information about the deceased person’s medical history. Some investigations, such as an ECGs, Exercise Tolerance Testing or Echocardiogram, will be offered to first degree relatives, such as parents, siblings and children. We may also at this point discuss any genetic results we have available from molecular autopsy.
TRAGADY SUDY Best Practice Guideline 2008
Ministry of Justice Website: Information for families on sudden death from a cardiac inherited disease.
Information sheet for families (MOJ)
Cardiac hypertrophy at autopsy, Basso, 2021
CIDG referral forms:
SD1 Referral – Pathologist to LabPlus CIDG (January 2017)
SD2 Referral – Pathology referral to CIDG (January 2017)
If you are unsure if you should refer a case to us or not you could discuss this with a CIDG Coordinator and details can be found on the contact us page.
SUDY Best Practice Guideline 2008