Dr Kaski on treating hypertrophic cardiomyopathy

Dr Juan Pablo Kaski is a Consultant Paediatric Cardiologist and the Director of the GOSH Centre for Inherited Cardiovascular Diseases. Here he talks to us about looking after GOSH patient George, who features in Paul O’Grady’s Little Heroes.

Hypertrophic cardiomyopathy 

George has hypertrophic cardiomyopathy, a condition where the muscle of the heart becomes abnormally thick – making it more difficult to pump blood around the body. 

It is usually a genetic condition, caused by changes to certain genes that play an important part in how the heart develops. 

While it's surprisingly common in adults, it’s much rarer in children, with an estimated prevalence of around three in 100,000. This means there are only a few hundred children in the UK with hypertrophic cardiomyopathy. 

With hypertrophic cardiomyopathy, the faulty gene is present from the moment the child is born, but the features of the condition – the thickening of the muscle of the heart – is something that tends to develop as the child gets older. 

“We don’t fully understand why that’s the case, but it’s likely to be related to changes in the hormones, and other factors,” Dr Kaski explains. 

“There’s a lot of research around this condition, and we are involved in a lot of this research – some of it funded by Great Ormond Street Hospital Children’s Charity, and some of it funded by the British Heart Foundation. 

“We’re trying to identify very early features of the condition to see if we can detect those changes and therefore begin treatment earlier on. We’re also trying to find ways to detect potential markers of increased risk, so we can protect those at an increased risk.” 

 About George 

George has a relatively severe form of hypertrophic cardiomyopathy, as he was diagnosed at quite a young age. He has a feature of the condition (left ventricular outflow tract obstruction) that is essentially a narrowing of the outlet of the heart as the blood gets pumped out of it. 

George tried several different medications over the years, however – as he continued to experience symptoms of breathlessness or chest pains – it was decided that an operation called a myectomy was necessary. 

Dr Kaski's surgical colleagues operated on his heart, shaving a little bit of the muscle off to allow blood to flow out of the heart more freely. 

“It’s a major heart operation: there are relatively few centres and relatively few surgeons who are able to perform it, particularly on children,” he says of the operation. 

"Here at Great Ormond Street Hospital, we have a myectomy programme and we have a surgeon who is extremely experienced at performing this operation, particularly on children.” 

Patient George at GOSH

Ongoing support 

A lot of the treatment, support and advice provided by Dr Kaski and his team of highly trained Clinical Nurse Specialists is aimed at allowing children and families to lead as normal a life as possible. 

That said, there are certain things George must be more careful about; for example, there are certain levels of physical activity that it's been advised he doesn’t take part in. 

“We’re very lucky at GOSH that we do have a multi-disciplinary team to provide that level of holistic care,” Dr Kaski says. “For example, within our team George has a group of nurse specialists who know him very well. They’ve known him from the first time he came to the hospital, and are able to provide advice or help over the phone at any given time.” 

Two tests, every six months 

Dr Kaski and his team see George every six months as a way of keeping a close eye on things, making sure he’s ok and that he hasn’t developed any new symptoms. 

"George is growing, and as he grows you might expect there to be changes in the way his heart looks, and there might be some changes in his symptoms," he says. 

The two tests carried out on every visit are an electrocardiogram (ECG) and an echocardiogram, which Dr Kaski describes as the best ways they can monitor his progress over time. 

An ECG essentially looks at the electrical activity in the heart, whereas the echocardiogram is an ultrasound scan of the heart that enables doctors to look at its structure and function. 

Dr Kaski explains: "We can see how his heart is pumping and relaxing, and whether there has been any change in the amount of thickening of the muscles. 

"(The tests) allow us to get a slightly more objective view of how his heart is coping with day to day life, and whether there’s been any progression of the condition itself, particularly as he approaches the teenage years which is a time we know the body changes and there are often changes also in the heart.” 

There are additional tests that the department also do, which are more specialised, which include things like a cardiac MRI scan of the heart. 

Next steps 

Due to the nature of the condition, George will need to be monitored for the rest of his life and the team will arrange to see him again in six months. Right now, everything is looking good, so he will continue to take his medication as before. 

“It’s always lovely to see George and his family, they’re extremely friendly, and don’t mind travelling all the way to London to see us here at Great Ormond Street; it’s always a real pleasure to see him,” says Dr Kaski. 

“It’s been a pleasure to look after George for many years and I hope to continue to do so for many years to come. 

“It’s very difficult to predict (the future), as everybody’s different and the condition behaves differently in different people. In George’s case, there are other people in his family who are affected by the condition but who are leading completely normal lives, and that’s what we hope and anticipate for George." 

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