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An interview with Dr Gherardo Finocchiaro

In this interview, former CRY Research Fellow Dr Gherardo Finocchiaro discusses his research into hypertrophic cardiomyopathy, entitled “Sudden Death Can Be the First Manifestation of Hypertrophic Cardiomyopathy: Data From a United Kingdom Pathology Registry” (Finocchiaro G, Papadakis M, Tanzarella G, et al. Journal of the American College of Cardiology. Clinical Electrophysiology, February 2019).

How did you conduct your study?

The study was conducted analysing a database of 5,100 consecutive cases of sudden cardiac death referred to our Cardiac Risk in the Young specialist cardiac pathology centre between January 1994 and March 2017. The aim was to identify cases of hypertrophic cardiomyopathy (HCM).

What were the key findings of this study?

1) We identified 196 (4%) cases with HCM. Sudden death was the first manifestation of HCM in the majority (78%) of cases, and only 50 (26%) decedents had reported cardiac symptoms prior to death.

2) Death during exercise or during emotional stress occurred in 46 individuals (23%) who were predominantly male (89%) and young.

3) The diagnosis of HCM was often made only after death (78% of cases).

4) Sudden death from HCM mostly occurred during rest or usual life activities (77% of cases) other than strenuous exercise, suggesting that exercise may be a risk factor for fatal arrhythmias only in young male subjects.

How can early identification of HCM in asymptomatic individuals be improved?

This study demonstrates that often sudden death is the first manifestation of the disease in individuals that did not report significant cardiac symptoms. The take home message is that we, as a society, have to do better in order to identify HCM (and other cardiomyopathies) in asymptomatic and apparently healthy individuals.

Basic tests like the ECG have been shown to be abnormal in > 90% of patients with HCM. Population screening with the ECG may raise the suspicion of the disease in individuals with specific ECG abnormalities; this process would lead to a final diagnosis establishing appropriate therapy and lifestyle management that can reduce significantly the risk of sudden death.

Dr Finocchiaro presenting some of his research on arrhythmogenic right ventricular cardiomyopathy at the 2019 CRY Conference.

What research could be completed next to further the findings of this study?

Further studies should be focused on understanding the molecular mechanisms underlying the susceptibility for fatal arrhythmias in sudden death victims diagnosed with HCM.

What is the key take home message for clinicians who treat patients with HCM?

HCM is a multifaceted disease and risk stratification is still challenging. We have to focus on early identification of the disease in the community as diagnosis is the first step in managing risk in these patients.

What are the implications of this research for people living with HCM?

Most sudden deaths occurred during daily activities and at rest. Labelling a patient with HCM often means restriction from intense physical activity. There is no hard evidence to support that exercise is a risk factor for potentially fatal arrhythmias in patients with HCM. Our study encourages a discussion regarding sport participation in patients with HCM. It is possible that, for unknown reasons, only young males with HCM are at risk of dying suddenly during sport.

You can read more of this study by going to https://bit.ly/34h3llA

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