I’m always harping on about the need for plenty of exercise, but I’m not sure I acknowledge the importance of recovery as such as I ought. After a week in the French countryside doing lots of reading, eating of cheese and drinking of wine, I’ve been keen to get back to my normal exercise plan. My activity tracker whilst on holiday was a sorry sight, and that was for the time I wore it, mostly it sat unloved in the bedroom! Not so this week, I have been smashing it: cycling – VO2 max spinning plus long outdoor rides, weights, golf (a full 18 holes with my son yesterday which I’m delighted to say I won fairly comfortably – he’s been getting a bit cocky lately on the course and I doubt I’ll be beating him much longer!), pilates. My activity tracker this week has steam coming out of it. However, I simply haven’t rested, and today my body is letting me know it. I’m sore, my muscles ache, and I feel like I’ve overdone it. Note to self: you are nearer to 50 than 40, let alone 30, and making time for rest is important.
Earlier this week I saw a patient in his early 70s, tired, a bit breathless but not too bad, who wanted to get his heart checked out. He was known to have atrial fibrillation, but not much else. My first thought was heart failure, and I organised the usual blood tests, heart scan, and an ECG (paper tracing of the heart’s electrics). The blood test (NT pro-BNP) was quite high, and certainly made heart failure a strong possibility. The ECG however was fairly unremarkable. The diagnosis was made by the heart scan – an echocardiogram, which showed a thick-walled heart, consistent with a condition called hypertrophic cardiomyopathy, or HCM for short.
HCM is a genetically inherited heart condition, and when I put this to him, he knowingly acknowledged he thought as much. Although no-one in his family had been diagnosed with the condition, his mum’s side was littered with tell-tale things like strokes, chest pains and so on (remembering of course in that generation diagnostic testing was much less well-evolved than it is today. A point of interest is that this chap had got to his early 70s without any major symptoms. HCM predominately gets diagnosed in younger people in their late teens and early 20s, but a fair few only get picked up much later in life, either with late onset symptoms, or as a result of family screening. Whether those patients presenting with symptoms in later life only developed the condition later on, or had it for decades without symptoms is often impossible to know.
Importantly, each first degree relative has a 50:50 chance of inheriting the gene that caused the condition, meaning guidelines recommend screening with an ECG and echocardiogram of all first degree relatives in the first instance. This can sometimes be a big undertaking. There aren’t that many specialist centres in the country (those that deal with what we call ICC – inherited cardiac conditions) equipped to perform gene testing, and interpret the results of scans and give advice to patients and their relatives. Many are London-based, and I’m very proud to have established the Dorset NHS ICC service here.
Gene testing is a complex business, but in brief, we test a patient’s blood for commonly known genetic mutations that can cause HCM, and compare results against huge databases. We then come to a conclusion on the likelihood of a genetic mutation being responsible for the condition (or not). There are often many shades of grey! We find a causal mutation in around 60% of cases. That doesn’t mean the other 40% are not genetic, merely that in 2025, we just don’t have all the genetic answers!
HCM causes a thickening of the heart muscle, and there are often a variety of other anatomical abnormalities in the heart, such as with valves. Common symptoms include chest pain, breathlessness, dizziness and palpitations. A family history is common, but not always present. Another important aspect of a consultation with a patient with HCM is the risk for sudden death! We have all heard of tragic cases of sportspeople dropping dead on pitches, and HCM is often to blame. This is thankfully rare, but nevertheless requires a risk assessment using a specific algorithm (which by the way, was developed by a guy I had a desk next to when I did my research in HCM at University College London back in 2010!).
Many symptoms can be well managed with medication and most patients can lead a perfectly normal life, but some patients do have very extreme symptoms, and some need more complex treatments. I have a dozen or so patients who have required a heart transplant for HCM, and have a few on the waiting list right now. Preventing a stroke is incredibly important as HCM carries a much higher risk of this than the general population. Once diagnosed, a more specialist imaging test using MRI is indicated. This gives us clearer images of the heart, and also looks for the presence of scarring.
As you are probably realising, what started out as a routine referral suddenly opens a whole pandora’s box, but putting together all the pieces for a patient and their family is incredibly rewarding.
In this week’s research video, I discuss a fascinating study using cutting edge RNA sequencing technology to evaluate the gut microbiome, using it to determine the impact of time-restricted feeding, please do check it out.