Cardiomyopathy: symptoms, what life expectancy?

Definition: what is cardiomyopathy?

“Cardiomyopathies are heart muscle diseases, largely genetic, but not exclusively (cardiomyopathies linked to viral attacks, etc.), explains Joëlle Sissmann, cardiologist. The consequence is that the function left ventricular pump will be impairedwith mismatch between cardiac output and needs, resulting in a shortness of breath“.

Dilated cardiomyopathy

In this form of cardiomyopathy, “the heart chamber increases in size”, observes the cardiologist. The quality of cardiac contraction is also altered. Result, the heart contracts badly, and therefore empties badly, causing a drop in cardiac output. It poorly ejects the desired amount of blood with each beat, leaving a large residual volume in the heart chamber. This results in a shortness of breath on exertion. “When the causes are genetic, the heart is generally very hypocontractile: it contracts badly, ejects badly, thus causing the drop in cardiac output and therefore shortness of breath (what is called congestion)”she explains. “Some genetic causes will result throughmolecular abnormalities of alterations in the functioning of the heart muscle and therefore a poor contractility of the heart which little by little will expand”. Many pathologies can also cause secondary dilation of the heart. They can be “the consequence of a myocardial infarction or valve disease”, notes the cardiologist.

hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy is a increase in the thickness of the walls of the heart leading to an increase in the size of the left ventricle. “As a result, the heart is generally less elastic than in normal times”, explains the cardiologist. This causes discomfort in cardiac filling and shortness of breath on exertion. THE most common causes are thehigh blood pressure or athletic heart/intense sport. It can also be genetic diseases but it’s “relatively rare”, says Joëlle Sissmann. Among them, the “overload” diseases which may be related to enzyme deficiencies, causing thickening of the heart muscle, and which often involve other organs (eg Fabri’s disease). “You can also have metal overloads, as in the disease of hemochromatosis : a chronic iron overload will lead to a thickening of the walls of the heart and an overload of other organs such as the liver”. There may also be dAbnormalities linked to protein degradation overloads as in cardiac amyloidosis.

Obstructive cardiomyopathy (OCM): the dreaded sudden death

Obstructive cardiomyopathy (OCM) refers to a form of hypertrophic cardiomyopathy with a wall so thick that there is difficulty in ejecting blood when the ventricle contracts. THE symptoms are multiple, from shortness of breath to fainting but also arrhythmia and can progress to heart failure. “This is a particular hypertrophic cardiomyopathy with an obstacle to ejection. This obstacle will be the cause of a drop in cardiac output which can be so sudden during exercise that it can cause syncope or even a sudden death”, explains the cardiologist. Sudden death is the most feared complication of this diseaseoccurring in high-risk patients, especially when the disease is unrecognized or undiagnosed, especially in athletes. “Obstructive cardiomyopathy is exclusively of genetic origin“, observes Joëlle Sissmann. Caused by the mutation of a gene that codes for the heart muscle, it is transmitted in an autosomal dominant way: the child can be affected if one of the two parents carries the anomaly. “You should know that there is a whole catalog of genetic diseases that can be the cause of cardiomyopathies”, alerts the cardiologist. “Thus, when there is a hypertrophic, obstructive or dilated cardiomyopathy without obvious cause, it is necessary to carry out genotyping of the affected person, and a family investigation“, she continues. “Screening through the identification of the genetic mutation that was responsible for the cardiomyopathy is necessary in the ancestors and descendants of the identified person”.

Stress cardiomyopathy: not genetic

There stress cardiomyopathy or Tako Tsubo (broken heart syndrome) takes its name from a Japanese vase whose heart would take the shape during the disease. “Often linked to stress, it is found in slightly older women”, notes Joëlle Sissmann. “These have the symptoms of a heart attack, but on coronary angiography the arteries usually appear normal“. The stress cardiomyopathy regresses as it happened, with recovery of cardiac function within a few days. The causes of stress cardiomyopathy are not genetic. “This is a particular terrain on which the disease would be caused by a major stress, stress releasing hormones (catecholamines) which can be toxic to the heart. The latter is as “stunned”, and then simulates a myocardial infarction”explains the cardiologist.

What is the life expectancy with cardiomyopathy?

“It is difficult to talk about life expectancy in general, because it depends on the causes and therapeutic options, says the cardiologist. The age at which you are diagnosed, the country you live in, access to care, and especially in heart transplantation…”. Some forms are treated for a relatively long time thanks to medication, regular monitoring and certain restrictions (food, sports, etc.), and in other cases, accidents leave no life expectancy, such as sudden death of athletes. “Concerning dilated cardiomyopathies, there are more and more effective treatments that allow patients to be maintained with living conditions that are often more than correct, and sometimes almost normal”, she specifies. “When treatment is over, there is always the option of heart transplantation.”

What are the symptoms of cardiomyopathy?

The symptoms of cardiomyopathies are quite unequivocal:

• Tiredness;
• Shortness of breath;
• pain;
• More rarely a faintness ;
• More rarely in hypertrophic obstructive cardiomyopathies, syncope, especially on exertion (we think of athletes who fall suddenly in stadiums).

What are the complications of cardiomyopathy?

“In all cardiomyopathies, there may be complications“, adds the cardiologist. “Outside of the decreased cardiac output, signs of pulmonary congestion and heart failure which constitute the signs of progression of the disease, the main complications are heart rhythm disturbances (arrhythmia) which may be serious in themselves or make underlying symptoms worse.

“Often, discomfort or shortness of breath are symptoms that alert”, observes Joëlle Sissmann. “The person will very quickly go to the cardiologist; today the latter has a ultrasound machine which will most of the time make it possible to establish the diagnosis”, she continues. “There are many other ways to establish or refine the diagnosis, especially MRI imaging which will make it possible to characterize many forms”.

Treatments depend on the type of cardiomyopathy.

► Treatments for hypertrophic heart disease. “For certain genetic causes, notably Fabri’s disease, we have identified the anomaly responsible and developed specific drugs to treat the symptoms”, observes the cardiologist. The treatment uses beta-blockers and sometimes Verapamil if the beta-blockers are poorly tolerated or ineffective.

► Treatments for stress cardiomyopathy. “Rest as well as beta-blockers (IEC or ARA2) are prescribed once coronary angiography confirms the absence of coronary lesion”says Joëlle Sissmann. “The existence of a coronary attack which is always possible requires specific treatment”.

► Treatments for dilated cardiomyopathy. “There are a lot of treatments, mainly to treat the symptoms”, says the cardiologist: diuretics, calcium channel blockers, beta blockers, ACE inhibitors… In some cases, cardiac stimulation (defibrillator, pacemaker) or heart transplant are considered.

► Treatments for obstructive cardiomyopathy. “Through a medical treatment, we will try to relieve the obstruction. In evolved forms, one can try to induce a resection of the bead which is responsible for the obstruction, either surgically or by inducing a minimal infarction, to destroy the excess tissue”, explains Joëlle Sissmann.

Thanks to Dr Joëlle Sissmann, cardiologist.