The loss of someone close to you is a difficult and distraught time no matter whom they were or how they passed. I lost both my parents many years ago, and because of this bereavement since 2012 I often do volunteer work at the charity shop Your Good Mourning in Walkley. It’s a nice little shop where you are just as likely to have a good natter as well as finding cute little trinkets. Of the money they raise, they give to six different bereavement charities one of which is Cardiac Risk in the Young.
It is a rather sad and yet almost stereotypical story which starts with a young person who is fit and healthy, but then one day probably during an athletic or sporty event, they collapse and suddenly die without any warning as this video from CRY soberly illustrates. This is termed as Sudden Death Syndrome (SDS) and is related to undiagnosed heart conditions. While CRY collects funds for support for an array of heart conditions, in this blog article I focus more specifically on arrhythmogenic (right ventricular) cardiomyopathy [ARVC or ACM].
ACM occurs 1 in 1000 and affects both men and women of all ethnicities presenting itself in adulthood. It usually only affects the right side (ventricle) of the heart (hence the ‘RV’ [right ventricle] in ARVC), however the recent identification of the occurrence in both sides of the heart has prompted the adoption of the broader term: arrhythmogenic cardiomyopathy (ACM). The heart relies upon electrical signals to keep it going, unfortunately in ARVC/ACM this mechanism is at fault resulting in an abnormal heart rhythm (palpitations). Left undiagnosed this could lead to sudden death. At the core of this issue is the importance of diagnosis and awareness.
The cause of this defect lies in the component that binds or glues the heart muscle cells together known as the intercalated disc. As a result of genetic mutations, changes in proteins within the intercalated disc causes it to break down, resulting in the muscle cells separating. Once the cells eventually die they are replaced with scar and fatty tissue. However this new tissue impedes the electrical activity that enables the heart to pump. This process can be likened to a relay race where the runner’s and the baton stick are the electrical impulse. To get to the next runner to hand over the baton, the second runner has to travel over a bridge. But because the bridge (i.e. the intercalated disc) fell apart the runner will need a slow-travelling boat instead.
Current treatments are aimed at preventing the palpitations to reduce the risk of sudden death. Medication can be taken but in more severe cases a cardiac defibrillator has to be implanted. However a recent discovery has taken place where an “almost new” drug on the block is coming up.
This is the part where I name-drop(!) I met Angeliki Asimaki through the Greek side of my family. My uncle and her father have been lifelong friends, knowing each other for about six decades. I honestly can’t remember how I met her, probably through my cousin but she and I have often had conversations about the nature of academia, and last Christmas when I made mulled wine she and I ended up polishing it off together.
Dr Asimaki (Harvard University in Boston) was born with two heart problems and since the age of 16 has lived with the aid of pacemaker giving her the motivation to pursue this topic of SDS. In June last year she and her co-authors published in Science Translational Medicine identifying the drug that can prevent heart failure and restore the electrical impulses in the field of ACM. While most drugs are identified initially by pinpointing the mechanism of a pathway and developing the drug accordingly, her study proved unique in that the drug that was the most successful identified a new mechanism behind the biochemistry of ACM. Angeliki has now told me that this drug SB216763 has now been passed onto a pharmaceutical company for further development. She foresees that this new drug will most likely be on the market in five years, quicker than in most cases as it has been tested clinically before in cases of bipolar disorder and schizophrenia.
This research is significant in how it has contributed to drug-development through the use of animal models and has opened up a new avenue of research for ACM. The organisation CRY continues to raise awareness with messages such as this one, raise money (they have raised over £2 million) and this year is their 20th anniversary. Even the Director of the National Institute of Health Dr Francis Collins saw fit to blog on this discovery. There are good research prospects ahead. Something many who will have lost someone to SDS might be pleased to hear. So if you are concerned about SDS issues, then I urge you and others close to you to get tested.
(Dr Asimaki would like to me to inform my readers of her acknowledgements: Johns Hopkins, Stanford University, and funding support from the NIH and the American Heart Association)