Genetic heart diseases: a large proportion of patients remain undiagnosed

Genetic heart diseases: a large proportion of patients remain undiagnosed

Special short stories draw attention

Cardiovascular diseases are the leading cause of death worldwide and in Hungary, accounting for nearly half of all deaths in 2019. On the occasion of the World Heart Day on 29 September, Bristol Myers Squibb, a biotech pharmaceutical company, is drawing attention to hereditary heart diseases, of which cardiomyopathies, which are the most common, are caused by damage to heart muscle cells. A hereditary heart disease can run in a family for generations, so a special exhibition of contemporary Hungarian writers is sending a message: it’s important to take care of your heart health. At the press conference, Zsuzsanna Bernáth Lukács also spoke about the importance of patient education and the patient organisation.

In Hungary, heart disease is one of the leading causes of death, and Bristol Myers Squibb wants to raise awareness of the disease and the importance of heart health through an educational campaign and a special exhibition.

To mark World Heart Day, an exhibition will feature short stories by contemporary Hungarian writers inspired by the stories of heart patients.

The event was attended by

Prof. Dr. Béla Merkely, Rector of Semmelweis University, Director of the Heart and Vascular Clinic in Városmajor,

Prof. Dr. Dávid Becker, President of the Hungarian Society of Cardiologists, Deputy Director of the Heart and Vascular Clinic of Városmajor,

Dr Zénó Kuluncsics, Medical Director of Bristol Myers Squibb,

Zsuzsanna Bernáth-Lukács, President of the SZÍVSN National Patient Association,

János Lackfi, Hungarian poet and writer, winner of the Attila József Prize, who will read a short story he wrote for the occasion

The disease is often diagnosed later

Cardiovascular diseases kill more than 20 million people every year and their incidence is increasing year by year. Cardiovascular diseases are the leading cause of death in Hungary, with 49% of deaths attributable to these diseases, according to the 2019 KSH data, which represents nearly 64,000 deaths.

Some heart diseases can be hereditary, so they can occur in several generations of a family, at any age, but because patients can be asymptomatic for a long time, a significant proportion of them are not diagnosed at all or are diagnosed only later. This is why Bristol Myers Squibb, the biotech pharmaceutical company, is using World Heart Day to raise awareness of inherited heart conditions and the importance of regular screening.

In the most common inherited heart disease, known as hypertrophic cardiomyopathy, the wall of the left ventricle becomes very thick and stiff, which can over time block the flow of blood out of the heart. The disease can worsen over time and lead to irreversible complications.

Diseases of the heart muscle, cardiomyopathies, are often genetic. People with hypertrophic cardiomyopathy have a higher risk of sudden cardiac death – often the cause of sudden cardiac death in young athletes – but this risk can be reduced by early diagnosis and prevented by lifestyle changes adapted to the appropriate management of the disease. However, in addition to physical symptoms such as chest pain, breathing difficulties and fatigue, hereditary heart disease can often cause significant psychological distress and depression, and can affect the patient’s social relationships.

Hereditary heart diseases can affect one in 200 people in Hungary,” added Dr. Béla Merkely, Rector of Semmelweis University and Director of the City Major Heart and Vascular Clinic. The professor explained that if hereditary causes are discovered, it is also possible to screen the affected patient at the genetic level. In the case of most hereditary heart diseases, very simple tests can reveal whether there is a risk of developing the disease. In the case of hypertrophic cardiomyopathy, for example, an ECG may already indicate a lesion that requires further cardiac ultrasound scans, which can confirm the presence of the disease causing the thickening of the ventricular wall.

Every heart has a story

To mark World Heart Day, a special educational campaign has been launched with contemporary Hungarian writers to raise awareness of heart diseases of genetic origin, including cardiomyopathies. Like every family, every heart has a story, and this idea inspired the extraordinary short stories that adorn the walls of the City Major Heart and Vascular Clinic at Semmelweis University. The stories, written by Attila József Award-winning author János Lackfi, Tamás Ijjas, Marianna Posta and Miklós Véssey, are based on the stories of real heart patients and their relatives, with the intention of raising awareness of hereditary heart diseases and giving hope to all those affected.

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