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 In Cardiology

Six-in-10 patients living with inherited heart conditions face long delays before receiving a diagnosis as their symptoms are attributed to other conditions, according to a survey from the British Heart Foundation (BHF).

The nation’s heart research charity surveyed people living with an inherited heart condition in the UK (2) and found that of those who experienced symptoms prior to diagnosis, the majority (60 per cent) were initially diagnosed with other conditions, putting them at increased risk of sudden cardiac death.

The physical symptoms of stress, anxiety and asthma can be similar to those experienced by people suffering with inherited heart conditions and include difficulty breathing, palpitations, chest tightness, and a racing heart rate.

Almost a quarter (23 per cent) of those who were not immediately diagnosed were told they were suffering with stress or anxiety, while others were diagnosed with conditions, such as asthma (seven per cent) and epilepsy (five per cent). More than half (54 per cent) had to wait more than two years before they were finally diagnosed with a heart condition.

Latest estimates suggest that around 620,000 people across the UK  are carrying faulty genes which, if undetected, could put some at risk of a deadly heart attack or cardiac arrest (3). However, many are undiagnosed.

The BHF says that medical professionals and patients need to be more aware of the signs of these deadly conditions, and is calling and for more research in to identifying the genetic faults responsible.

While genetic testing for families at risk can help diagnose some of these conditions, many of the genes responsible remain a mystery. Around one-in-five (17 per cent) of respondents said that genetic testing helped with their diagnosis compared to seven-out-of-10 (67 per cent) who were eventually diagnosed through an ECG or echocardiogram.

Discovering more of these genetic faults could lead to quicker and simpler ways of diagnosing these deadly conditions, according to the charity.

Dr Mike Knapton, Associate Medical Director at the British Heart Foundation, said, ‘Inherited heart conditions can be silent killers. This means that early diagnosis is essential so people can be put on the right treatment and live a normal life.

These results show that it can be extremely difficult to correctly diagnose people, meaning it’s vital that we raise awareness about the symptoms and diagnostic tests for those most at risk of inherited heart conditions.

We urgently need to fund more research to identify the faulty genes responsible for these conditions and find new ways to treat people with inherited heart disease.’

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