By Molly Case
who is a spoken word artist, writer and nurse
Families with a new diagnosis of an inherited heart condition often exhibit feelings of guilt and blame - that they have actively ‘passed something on.’ This is despite other conditions having a genetic basis and not triggering similar feelings: diabetes, cancers, Parkinson’s. We don’t consciously pass on our DNA or genetic mutations that cause disease, but within this speciality it feels as if it is harder for people to believe that.
More than 50 inherited heart conditions have been recognised and due to our better understanding of genetics, diagnosis is becoming quicker and more efficient. Sometimes we are able to simply take a sample of blood and test for the disease-causing genetic mutation within their DNA.
One heart condition we diagnose is called Brugada syndrome. This is an inherited heart condition associated with abnormal heart rhythms. Low risk patients are often given lifestyle advice. This can consist of not going to bed with a full stomach, treating high temperatures aggressively, avoiding excessive alcohol intake, keeping hydrated and not taking certain medications. Not all heart conditions require big interventions such as medication or internal defibrillators.
A robust post mortem can be really important to assist the living family members. Some inherited heart conditions can lead to sudden cardiac death and/or sudden arrhythmic death syndrome (SADS). Sudden cardiac death can be identified at post-mortem examination and sections of the heart should be sent to an expert cardiac pathologist to review the heart under the microscope to see minute changes such as changes in the cells of the heart.
We use small samples of frozen spleen to extract DNA. This is because they are highly cellular and therefore rich in DNA. This means we can sometimes diagnose a heart condition in somebody years after they have died. This is called a molecular autopsy.
About Molly Case
Molly Case is a spoken word artist, writer and nurse born and brought up in south London. She currently works at St George's Hospital, London as a cardiac nurse specialist. In April 2013 she achieved national recognition after performing her poem 'Nursing the Nation' at the Royal College of Nursing. Molly has appeared in the Guardian, the Independent, the Times, Elle magazine and Huffington Post, and was named in the Health Service Journal's Inspirational Women list and the BBC's 100 Women list. Her debut collection of poetry was out in 2015 and her memoir HOW TO TREAT PEOPLE was out in April with Viking, Penguin Random House. You can follow Molly on Twitter and Instagram.
'Weaving together medical history, art, memoir and science, How to Treat People beautifully illustrates the intricacies of the human condition and the oscillating rhythms of life and death. Most of all, it is a heart-stopping reminder that we can all find meaning in being part, even for a moment, of the lives of others.'
