HYPERTRIPHIC OBSTRUCTIVE CARDIOMYOPATHIE (HOCM) - Patient point of view
My name is Clémence, I am 25 years old. I was born prematurely on March 13, 1995, 2 months ahead of time, and with a rather rare genetic disease called "Hypertrophic Obstructive Cardiomyopathy (HOCM)". It is related to gene Myh7 (a gene encoding a myosin heavy chain beta isoform expressed primarily in the heart); this gene is the ultimate cause of my heart condition.
An early diagnosis
My diagnosis was highlighted from the very first days of my life. I suddenly ran out of air due to a surge of transient blood pressure in my lungs and had be connected to a ventilator for 8 days because of respiratory distress.
Hypertrophy of the heart muscle is rarely present at birth. It is more often found in adolescents and young adults. At first, it was thought my condition was due to my mother's gestational diabetes that can lead to babies being born with larger than normal organs. Confirmation of my hypertrophic cardiomyopathy was simple and fast. I had a cardiac ultrasound and a genetic test.
I am the only one in my family to suffer from severe hypertrophic cardiomyopathy.
Both my mother and sister carry the HCM gene, but are not affected with the disease, that is to say they do not have a larger or more muscular heart.
A large ventricular septum
In my case, the stout wall separating the ventricles, the lower chambers of the heart, from one another, was much thicker than normal. Increasing in size over time, it caused a partial obstruction under the aortic valve, causing my heart to work harder with each heartbeat. The rest of the heart became even more muscular as it had to cope with this resistance.
A highlight in my life
Cardiologists have followed my case regularly since birth. A beta blocker therapy was started at a very young age. I was 15 when the first symptoms appeared while playing volleyball. I felt my heart pounding, a great fatigue, had difficulty breathing and a sharp pain in my chest. I black veil came over my eyes as though I was going to faint.
So, I was in my teens when I had to undergo a major surgical procedure called a septal myectomy. At that time, my interventricular septum had enlarged to an abnormal 33 mm thickness, which caused a threatening obstruction, preventing the blood from flowing out into the aorta.
A challenging surgical operation
During a septal myectomy, the surgeon removes excess muscle from the thickened septum, allowing the blood to empty more easily from the ventricle.
It is an open-heart procedure that requires cardiac arrest. During the surgery, a heart-lung machine is attached to the body, providing oxygen to the blood, and pumps the blood into the body. I was totally unaware of what went on, I was sleeping peacefully under general anesthesia.
A most careful preparation
Several preoperative tests were performed before the surgery: chest X-ray, thoracic and cardiac scans and a magnetic resonance imaging test (MRI).
The medical team explained to my family and me the surgical technicalities, the benefits that could be expected as well as the possible complications that could occur.
The big day
The 12-hour surgery went well although it was a very long day for the surgeons; personally, I slept through it all!
I was fully asleep when I came out of the operating room, still hooked on to the heart-lung machine, and a pacemaker defibrillator had been installed.
A pacemaker defibrillator
This super pacemaker is implanted under the skin. It is powered by a battery and have various functions, 2 of which particularly meet my needs: the first one unblocks an eventual obstruction in the electrical functioning of the heart, which is one of the septal myectomy complications; more precisely, the onset of a total atrioventricular blockage.
I am sure you are not familiar with a blockage in the electrical system of your heart... Let me just say that I was not either, until the cardiologist explained it to me. It is the impaired transmission of electrical impulse between the atria and the ventricles. Without that impulse, the ventricles can no longer contract.
The second function of the pacemaker defibrillator that is essential for me is the monitoring and correction of a potentially dangerous arrhythmia.
An important detail
Hypertrophic cardiomyopathy is one of the most common causes of sudden death for people under forty.
Fortunately, all of us are not at risk! Some criteria were identified as being particularly significant.
For instance, family members who died of sudden death at a young age and a severe thickening of the ventricular septum, to name only these two.
A postoperative infection
I developed a high fever 8 days after my surgery. My defibrillator and its components were infected with a bacteria. We had been forewarned of this possible complication. The only solution was to remove this subcutaneous device, install another one temporarily, and I was put on antibiotics for 6 weeks. After a few days, I already felt much better.
I reached my goal!
We did not know if I would ever be able to walk again and go ahead with my daily chores and commitments. Thanks to my firm will to succeed, and because I believed in myself, I now live an almost normal life, although I suffer from an incurable disease.
I am presently studying philosophy, aiming at a Master's degree, and my recreational sport is swimming.
I am active with associations dedicated to Peace and to the Heart as I feel they have related goals: extend psychological help, give some warmth, hope, support and humor to those who need it most.
Living with a critical illness is challenging. One of the most important ways to lead a fulfilling life with an illness is to accept it.
In order to do so, a good relationship between the health-care provider and the patient is essential. For the doctor, a cordial relationship eases patient management; for the patient, such a relationship is characterized by trust and confidence in the physician's diagnosis and in the prescribed tests and medication to come.
In short, the patient feels reassured, the general monitoring of his case is in good hands.
A journey that is not easy at times
Unfortunately, the recent onset of heart rhythm disorders, or "ventricular tachycardia", are a cause of anxiety for me, although specialists monitor my case closely and regularly.
I know that the risk of a recurring heart muscle hypertrophy is still a possibility because of my past myectomy.
Although I am coping rather well with my situation and see the road ahead with enthusiasm, I worry about an eventual pregnancy because there is a 50% risk of transmitting my disease to my child.
My inner feelings
I always remained in good spirits through my ordeals, and still do, out of respect for the deep concern my parents, friends and doctors show me day after day. My relationship with the medical teams that look after me is most cordial, and at times even affective. These feelings are unchanged to this day.
For you, dear readers,
You have to understand, dear readers, that preserving one's health and reinforcing one's heart, that vital organ I call " the body's lamp", are both self-evident and paramount measures for living a full and satisfying life.
I do not intend to ever give up, I will continue to face my disease head on, and I hope you will do the same.
But the battle is far from over
I must warn you that hypertrophic cardiomyopathy is a progressive disease that can be challenging at times and bring on progressive myocardial fibrosis, which in the long run may cause heart failure.
Heart failure occurs when your heart muscle is unable to pump blood through your body as it should and meet its requirements. This is a serious health problem with far-reaching consequences that may be deadly in some cases.
A healthy lifestyle is a must and should be adhered to very seriously by all who suffer from hypertrophic cardiomyopathy. Living this way will preclude the risk of aggravating your disease and the possibility of heart failure:
- no alcohol,
- no smoking,
- eating a healthy diet without salt,
- exercise regularly as a leisure activity and not on a competitive basis.
The above acronym describes heart failure symptoms: Breathlessness, Weight gain, Edema and Fatigue.
Do not wait for the onset of the above symptoms before acting! Rely daily on the following acronym: Exercise, Weight-watching, Observance, No salt.
Let us be wise
As the great philosopher Seneca said: "Hurry up and live well and realize that each day is a life in itself".
- Exercise regularly, moderately; walking, riding a bike and swimming will help keep you in shape, fight fatigue, and contribute to your personal fulfillment and enhance your self-confidence.
- Maintaining a healthy weight means less fat and less breathlessness.
- See your doctor without delay when you feel something is physically wrong.
Take good care of yourself, be careful, and remember E.W.O.N. Living is important!
A special message to those who have the same disease I suffer from
I wish to say to all of you who suffer from hypertrophic cardiomyopathy not to worry, you will always be cared for with efficiency and dedication. And, most of all, do not despair! See the present and the future with lucidity, of course, but mainly with hope! Research is progressing...
My video on Heart Failure and Hypertrophic Cardiomyopathy is available on the following : https://youtu.be/T-iSdH45Xm0
Clémence GUALY – Montpellier