Clémence, 25 years old

My name is Clémence. I’m 25 and I was born prematurely at 7 months with a fairly rare genetic disease, hypertrophic cardiomyopathy, sometimes called hypertrophic obstructive cardiomyopathy. A mutation of the MYH7 (myosin heavy chain) gene I carry caused this disease.

In my case, the wall separating the left ventricle from the right (the septum) was much thicker than normal and growing over time. The risk was that it would block blood flow out of the heart. This type of pathology is the primary cause of sudden death in young people under forty and of heart failure.

I’ve had regular cardiology check-ups since birth and taken beta blocker medication from a very young age. The first symptoms of the disease first appeared during volleyball game when I was 15. I had extreme palpitations, asthenia, shortness of breath with movement, chest pain, vision blackout and atrial fibrillation.

Given the extent of my “33 mm major septal hypertrophy”, a rare, delicate and serious open-heart surgery with cardiopulmonary bypass (CPB) was required, called a cardiac myomectomy, in order to remove part of the heart muscle causing the obstruction.

After a long preparation time at the University Hospital of Montpellier, the operation lasted around 12 long hours (from 9 am to 9 pm) at La Timone hospital in Marseille. I left the operating room with an implanted defibrillator as a preventive measure, and a pacemaker that would stay in to address a complete atrioventricular block that is always very risky after this operation. The operation went well. But eight days later, I had severe endocarditis on the probe and pulse generator due to a pseudomonas infection. The pacemaker was removed and another one was implanted in the abdominal wall. Then I had a six-week course of powerful antibiotics at a heart rehabilitation unit in Hyères. Then I had a post-op stay in Montpellier.

We didn’t know if I would ever be able to walk again or do everyday essential tasks. But thanks to willpower and belief that I could do it, I managed to do so. Since then, I’ve been living a fairly normal life, although the disease is incurable. I’m studying philosophy, and swimming is my hobby. I’m active with organizations working for peace and heart health since I believe the two causes can work together.

However, the recent appearance of ventricular and atrial tachycardia heart arrhythmias has caused some apprehension since the risk of cardiac hypertrophy can’t be ruled out.

While I’m managing my situation well and look forward to the future, I’m worried because if I have children, they have a 50% risk of developing the same pathology. I’ve always stayed in good spirits during these ordeals and when dealing with the concern of my parents, loved ones, friends and doctors. I’ve always had a very close, even affectionate, relationship with all of the medical teams, something I still feel today.

The love I’ve been shown has guided me in my life choices and in the battle I’ve been fighting against cardiomyopathy since my childhood. Believe me: it’s an invaluable antidote because it can help us overcome many trials. So, don’t waste it. Learn how to understand it and it will come back to you.

To those who have this disease, may they be assured that they’ll always be taken care of with skill and dedication. And most importantly, may they not get discouraged. May they see the present and the future clearly, of course, but also with hope. Progress is being made in research.

I’d like to mention the different people who took care of me and some who continue to do so: in Montpellier, my cardiologist Dr. Sophie Guillaumont, Prof. Michel Voisin, cardiologist Grégoire de la Villeon, my rhythmologist Prof. Jean-Luc Pasquié, nurses Annie Auer and Amandine Marquina (at Institut St-Pierre in Palavas), my geneticist Emmanuelle Haquet, and the psychologists, especially Stéphanie Legras (St-Eloi). In Marseille, Prof. Gilbert Habib and Dr. Emilie Bastard. And a huge thank-you to my surgeon Prof. Loïc Macé, who successfully performed this difficult operation at Timone. Many others have been important to me, but it’s hard to name everyone. I hope they won’t mind. I’m very grateful to all of them for enabling me to stay alive and live my life.