Hypertrophic Cardiomyopathy Case Study

Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere

As this disease progresses and the workload of the heart is consistently increased, ventricular hypertrophy occurs. At first, the hypertrophied heart muscles will increase contractility, thus increasing cardiac output; however, as hypertrophy of the ventricular myocardial cells continues, it begins to have poor contractility, requires more oxygen to perform, and has poor circulation from the coronary arteries. This can result in heart tissue ischemia and lead into cardiac dysrhythmias (Lewis et al. 2014, 768).

Congenital heart disease is a cardiovascular condition resulting from an abnormality in the structure of the heart. The exact time this defect forms is unknown but it is during the fetal development in the womb. Researchers think the defect could be case partially by genetics and medical conditions of the fetus and the parents. If the baby’s mother had rubella, while pregnant or other conditions such as diabetes could have caused the defect. Some medications that were taken by a pregnant mother could also have caused birth defects. An error on chromosome 22 could also have caused the heart defect. Some symptoms that a person may have a congenital heart may not show up until later in life but many children also have the symptoms. Symptoms of a congenital heart defect are abnormal heartbeat, bluish tint to skin, shortness of breath, dizziness or fainting, and swelling of body tissues and organs.

other intense tests can be done to make the diagnosis much clearer such as Doppler echocardiogram, this uses sound waves to show the function of the right ventricle to measure the blood flow through the heart valves, and then calculate the systolic pulmonary artery pressure. There is also an X-ray, this is done on the chest. This can show any increase or decrease in size of the right ventricle and arteries. A simpler test such as the 6-minute walk test, this controls exercise patience level and blood oxygen saturation level during exercise. There is also a Pulmonary function test, this seeks for other lung conditions such as chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis compared to others. Also there is a 'Polysomnogram or overnight oximetry', this monitors sleep apnea (results in low oxygen levels at night). Also a right heart catheterization, this measures various heart pressures ( inside the pulmonary arteries, coming from the left side of the heart), the rate at which the heart is able to pump blood, and finds any leaks between the right and left sides of the heart.

AS can occur in the congenital period or later in life, but is more common in adults due to lack of exercise, and nutrition causing calcium buildup. If it is congenital it will occur within the first eight weeks of pregnancy, which the cause is unknown. In a child with AS, the pressure is much higher than normal in the left chamber pumping. Blood that has leaked back into the left ventricle through the valve in between heartbeats, causing the ventricle to be enlarged. There are three stages of AS. Stage A occurs in patients with bicuspid aortic valve or aortic sclerosis who are symptom free but are at risk for AS. In stage B people have progressive AS with mild or moderate calcify valve leaflets, leaflets mobility, or mild or

This condition is diagnosed based on your medical history and symptoms as well as a physical exam. You will also have tests, including:

Because Congestive Heart Failure has many causes, doctors need to find the underlying cause of the heart failure. So the doctors have to find out how and why the heart is malfunctioning before they can make a diagnosis. They do this by your medical/family history, physical examination, and a series of test. Some of the tests used to discover underlying cause are blood tests to evaluate the function of organs in the body, BNP blood test, X-ray, electrocardiogram (EKG), echocardiogram (ECG), stress test, cardiac catherization, radionuclide ventriculography, or a magnetic resonance imaging (MRI).

Some further tests that can be done are a Computed tomography scan (CT), Magnetic resonance imaging of the heart (MRI), by taking an X-ray which may show an enlarged heart, abnormal structure and arrangement of the abdominal organs and an Echocardiogram or Ultrasound of the heart.

As cardiomyopathy progresses, the heart becomes weaker and is less able to pump blood normally. This results in heart failure. There are different types of cardiomyopathy- hypertrophic, dilated, and restrictive. Hypertrophic cardiomyopathy occurs when the heart muscle cells enlarge which causes the thickening of the left ventricular wall. Although the ventricle size stays normal, the thickening makes it harder for the heart to pump blood. In some cases, the septum also thickens and expands to the left ventricle which causes a blockage of blood flow out of the left ventricle. The cause of the disease is unknown but hypertrophic cardiomyopathy is usually caused by changes in the genes in heart muscle proteins. It can also develop due to

A cardiologist usually begins with the noninvasive testing to see if the patient has CAD. The echocardiogram (echo) test is used when a patient may have chest pain, a previous heart attack, heart murmur, or a congenital heart defect (AHA, 2000). The echocardiogram is an ultrasound of the cardiac muscle. An echo is a test that uses a transducer to pick up sound waves which vibrate throughout the heart (Staff, 2011). The vibrations from the heart are accumulated to create a picture of the heart functioning (Staff, 2011).

Cardiac hypertrophy is the enlargement of the lower, ventricular walls of the heart. Most commonly occurring in the left ventricular side, cardiac hypertrophy can occur on one side or both. Characterized by abnormal heart muscle growth it can be a healthy response to pregnancy or exercise. However, an increase in heart size could also be a sign of hypertension, diabetes, muscular dystrophy, obesity, or cardiomyopathy. Hypertrophy of the heart can be adaptive or maladaptive, therefore the growth may not lead to an increase in cardiac output.

Specific blood tests also can be an accurate diagnostic tool. A kidney biopsy can also provide accurate results. Chest x-ray, ultrasound, and electrocardiogram can be effectively used (Stevens, 2009).

To conclude, hypertrophic cardiomyopathy, the cardiac sarcomere disorder, has been brought to the forefront of our attentions due to its rare yet fatal effects in young athletes; however, it is frequently asymptomatic and relatively common. In most cases, HCM will have no bearing on the person’s quality of life or lifespan. However, a minority, particularly young athletes, may be of an exception, with the myocardial disarray and thickened ventricular wall leading to complications. Dr Tom Riddington of the Guardian quotes: “since the 19th century more than 80 footballers are known to have died suddenly while playing, all young men, all otherwise apparently fit and healthy.” This highlights its significance with relation to sudden

Echocardiogram. This test can evaluate the amount of pressure that occurs in the right part of the

The types diagnostic that maybe ordered by the provider are x-ray to see the occultation of fluid noted in the lower lobes of the lungs and check the size of the heart.