Research News cardiomyopathy (HCM) diagnosis at autopsy. 196 cases of HCM were found. The referring coroner and pathologist completed a questionnaire to provide more information about the deceased, such as past medical and family history, preceding cardiac symptoms and the exact circumstances of their death.
CRY received an extremely generous donation of £117,303 from The Charles Wolfson Charitable Trust to fund a project by former CRY Research Fellow Dr Gherardo Finocchiaro (above, speaking at the 2018 CRY Conference) into left ventricular hypertrophy (LVH). This is the first time a single trust donation has fully funded one of our research projects. The project, entitled “Idiopathic Left Ventricular Hypertrophy in Victims of Sudden Cardiac Death. Familial Hypertrophic Cardiomyopathy or Novel Disease Entity?”, was published in the Journal of the American College of Cardiology in February 2019. The research reviewed a database of 5,100 consecutive cases of sudden cardiac death (SCD) referred to CRY’s Centre for Cardiac Pathology between January 1994 and March 2017, examining the characteristics and circumstances of death in cases with a hypertrophic
The study found that more individuals died at rest or during daily activities (150) than during exercise or emotional stress (46). When individuals did die during exercise, 89% were male. Additionally, only 26% of subjects reported having cardiac symptoms before death, highlighting how easily conditions can go undiagnosed and lead to tragedies. Studying family history helped provide more insight into how often cardiac conditions may be inherited. 46 families were investigated, with 35% of families showing a diagnosis of an inherited condition, the most common being Brugada syndrome. Ultimately, the diagnosis of HCM was only made after death in most cases (78%). With such a small percentage of individuals reporting any symptoms, it’s clear just how important early testing – and family testing following a SCD – can be. Without the use of tests such as ECGs, conditions like HCM could go completely unnoticed. As for idiopathic LVH, it did not appear to be on the HCM spectrum, even though this can be considered to be the case. No family members of decedents from SCD who had a diagnosis of idiopathic LVH showed phenotypic features of HCM. Furthermore, molecular autopsy in 30% of the families failed to find pathogenic variants in genes that are known causes of HCM, making it likely that idiopathic LVH and HCM are different pathological entities. Research is what enables us to further our understanding of young sudden cardiac death and the conditions that can cause it. We couldn’t do this without our doctors, and the tremendous support we receive to fund research projects like these.
Dr Finocchiaro giving his presentation, “Idiopathic left ventricular hypertrophy. Cardiac adaptation gone wrong?”, at the 2018 CRY Conference
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Thank you once again to the Charles Wolfson Charitable Trust for their generosity to support this project, and to Dr Finocchiaro for all the valuable research he has completed for CRY over the years.
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