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Cardiomyopathy is a medical condition in which the normal heart muscle is unable to adequately pump blood, because it thickens, stiffens, thins out, or becomes flabby. In addition to being impaired in its contractile function, cardiomyopathy may also cause cardiac arrhythmias (irregular heartbeat), congestive heart failure (backup of blood into the lungs), and end-stage heart failure that may require heart transplantation.
The Centers for Disease Control and Prevention (CDC) has summarized cardiomyopathy as follows. [See: Reference below.]
There are four main types of cardiomyopathy
Dilated cardiomyopathy is a condition where one of the pumping chambers (ventricles) of the heart is abnormally enlarged. It unfortunately can be a serious and rapidly progressive disorder, with a mortality rate of 50% within two years of diagnosis.
Hypertrophic cardiomyopathy is where the heart muscle is abnormally thickened. It is often inherited and may occur in childhood or early adulthood. It can be the cause of sudden death in adolescents and young adult athletes.
Arrhythmogenic cardiomyopathy is where the disease causes irregular heartbeats or rhythms. This is often inherited and more common in males.
Restrictive cardiomyopathyis where heart muscle is stiff or scarred, or both. It can occur with amyloidosis or hemochromatosis, and infiltrative other conditions. This is the least common type.
How common is cardiomyopathy?
As many as 1 of 500 adults may have some type of cardiomyopathy. It often goes undiagnosed. Males and females of all ages and races can have cardiomyopathy. Dilated cardiomyopathy is more common in blacks than in whites and in males than in females.
Hypertrophic cardiomyopathy is thought to be the most common inherited or genetic heart disease. While this type of cardiomyopathy occurs at many ages, in children and young adults with this condition there may be no symptoms, yet they are at high risk of sudden cardiac death. Sudden death in young athletes may occur with this condition.
Causes of cardiomyopathy
The cause of cardiomyopathy in many cases is unknown. However, in other cases, cardiomyopathy may be associated with certain medical conditions.
Familial.Cardiomyopathy may be genetic and run in families. A family history of cardiomyopathy, heart failure or sudden cardiac arrest are ‘red flags.'
Autoimmune and connective tissue disorders. These include polymyositis, dermatomyositis, systemic lupus erythematosus, and other similar disorders that can affect the heart and give rise to cardiomyopathy.
Coronary heart disease. Patients who suffer from coronary artery disease and who have had myocardial infarctions (heart attack) may develop ischemic cardiomyopathy because of repeated ischemic injuries to the heart muscle that causes it to weaken over time.
Other diseases that damage the heart. Any disease, such as hemochromatosis, sarcoidosis or amyloidosis, can cause progressive myocardial damage to the heart muscle and result in cardiomyopathy.
Endocrine diseases. These include hypothyroidism, hyperthyroidism, and diabetes mellitus.
Infections. While these are relatively rare, when they occur, they can injureheart muscle.
Alcohol or drug abuse. Chronic alcoholism and cocaine use are examples of substance abuse that can lead to cardiomyopathy.
Myopathies. Various forms of muscular dystrophy may affect the heart muscle.
Broken-heart syndrome. Takotsubo cardiomyopathy (or “broken heart” syndrome) was first identified in 1990 and arises from severe emotional stress that weakens the heart's left ventricle (e.g., when a spouse dies).
Peripartum cardiomyopathy. This is a cardiomyopathy that develops during pregnancy or soon after delivery.
Symptoms of cardiomyopathy
The symptoms of cardiomyopathy depend on the type of cardiomyopathy and how severe it is. Some patients may have little or no symptoms, while others may have severe, disabling, and potentially life-threatening symptoms and complications.
The most important symptoms are as follows.
Shortness of breath or breathlessness with mild exertion or even at rest.
Fatigue and tiredness.
Swelling in the ankles and lower extremities.
Arrhythmia or Irregular heartbeat and palpitations.
Syncope or pre-syncope, which means fainting or brief loss of consciousness.
Diagnosis of cardiomyopathy
The diagnosis of cardiomyopathy is usually established by a cardiologist with an EKG, echocardiogram, chest x-ray, and cardiac stress testing (e.g., treadmill). A coronary angiogram may be required.
An important parameter is the ejection fraction, which measures how much blood inside the ventricle is pumped out with each contraction of the heart. A normal ejection fraction is at least 55%. This means that 55% of the total blood in the left ventricle is pumped out with each heartbeat.
Heart failure occurs when the ejection fraction is 40% or less. The lower the ejection fraction, the more impaired is the heart's pumping action.
Treatment of cardiomyopathy
Treatment of cardiomyopathy is aimed at trying to slow the progression of the disease, control symptoms, and prevent sudden death. Treatment may include life-style changes (e.g., stop smoking, lose weight, and exercise appropriately) and medications.
Medications used to treat cardiomyopathy usually include ACE inhibitors, beta blockers, and diuretics. Examples of ACE inhibitors (“angiotensin-converting enzyme” inhibitors) are enalapril or Vasotec. Beta blockers work to decrease the heart's workload by slowing the heart rate and decreasing its contractility. Examples of beta blockers include metoprolol, Lopressor, Toprol, and Coreg.
Diuretics or "water pills," like furosemide (Lasix), help to decongest the fluid overload on the heart and lungs and improve breathing.
Digoxin is used to strengthen the heart's ability to pump blood.
Entresto (containing sacubitril and valsartan), while not a cure, has been shown to improve cardiac function and significantly reduce the symptoms of congestive heart failure.
Left ventricular assist devices (LVADs) help the heart in its pumping action by circulating some of the blood via a mechanical assist mechanism.
Defibrillators are used in patients with cardiomyopathy who are at risk for cardiac arrest and sudden death related to an arrhythmia.
Heart transplantation may be required when there are no other reasonable less-invasive treatment options, and the ejection fraction is very low.