BUSHRA (not her real name) is a 23-year-old woman from a small town in Pakistan. She was having recurrent episodes of sudden loss of consciousness, especially following strenuous activity. Three years ago, her younger sister had suddenly died. A year ago, her younger brother was diagnosed with a heart condition by a local doctor. He became seriously ill before treatment began, and passed away. Her parents had also died, but details of how and when are unknown.

Her elder brother sought help for Bushra in Karachi. She was finally diagnosed with a rare genetic abnormality after the collaboration of doctors in three tertiary hospitals. This abnormality can result in fatally abnormal heart rhythms. She was prescribed medications to protect her from such heart rhythms and, fortunately, she is alive and well today. Her younger sister and brother most likely suffered from a similar disease. A genetic test of her surviving family members can correctly identify if they suffer from the same illness and, eventually, a medication regimen can be prescribed.

This story highlights an important group of diseases that can result in sudden cardiac death. This group of diseases is known as inherited cardiac conditions (ICC). It can affect cardiac muscles ie cardiomyopathy and/or electrical system of the heart. Both anomalies result in abnormal heart rhythms called ventricular arrhythmia, which can be fatal if not properly treated. These diseases are genetically transmitted and the hallmark is sudden death or an aborted cardiac arrest, especially in young members of the family. However, on some occasions it only comes to light after a sudden death of a family member. It typically affects adults in their 30s and 40s, the peak of economic and social independence. Thus, it not only affects an individual, but also the community.

The most important symptom of ICC is syncope, characterised by sudden transient loss of consciousness, especially during strenuous activity, and fits/seizures during sleep. Sometimes patients have been diagnosed as having epileptic fits, whereas the actual problem is abnormal heart rhythms. Patients having these symptoms should consult a cardiologist, especially if any close relative has died unexpectedly during swimming, sleep or strenuous activities. Once diagnosed, the treatment for these conditions is medication, avoidance of certain drugs and overall lifestyle changes. Some patients may require an implantable cardioverter and defibrillator (ICD), a device to diagnose and treat abnormal fatal heart rhythms. Moreover, family members of these patients require genetic testing, counselling, and support.

World Heart Day is observed globally on Sept 29.

In the US, almost 325,000 of adult deaths are reported as sudden cardiac death, of which almost 20 per cent are attributed to ICC. Among the general population, the incidence of sudden death is one in 100,000 in adolescents, and one in 1,000 in individuals aged between 45 and 75 years. Similar data for Pakistan is not available to accurately predict its occurrence. Studies have highlighted the unavailability of robust data in Pakistan on ICC and the incidence of sudden cardiac death. This data is crucial for adequate long-term planning and prevention of fatal heart conditions.

Developing a health screening programme for diagnosing ICC is the need of the hour. Numerous countries have developed successful screening programmes to identify the population at risk of ICC. These fatal arrhythmias predominantly affect people performing strenuous activity. Thus, health screening programmes target primarily those who are routinely performing robust physical activity. In Italy, schoolchildren and adolescents undergo health screening using health questionnaires and an electrocardiogram as screening tools. In the US, health questionnaire screening is given utmost importance in schools. In the UK, many football and rugby clubs undergo a health screening programme that includes an electrocardiogram and ultrasound of the heart.

Pakistan must enforce similar standards. We should incorporate health questionnaire screenings in schools, especially where sports is an important part of co-curricular activities. Additionally, domestic and national sports teams should undergo screening to identify those at risk and encourage a health culture of prevention from various non-communicable diseases. The government and health institutes should collaborate effectively to identify, treat and prevent these incidences of sudden cardiac death. Physician education regarding the recognition of high-risk individuals is also extremely important.

World Heart Day is observed globally on Sept 29, to raise awareness about cardio-vascular diseases. Sudden cardiac death, unfortunately, can be the presenting feature of many cardiovascular diseases. It is high time we act to raise awareness about its prevention to save others like Bushra.

The writer is a cardiologist and electrophysiologist at the Aga Khan University in Karachi.

Published in Dawn, September 29th, 2019