The heart has the responsibility to pump blood and oxygen to all of the organs and tissues of the body. Once the oxygen has been delivered, the blood returns to the heart, so it can be sent back to the lungs to pick up oxygen once more. Infiltrative diseases of the heart increase the thickness of the heart and prevent it from expanding. It will no longer be able to fill up with the normal amount of blood.
Pompe Disease
Pompe disease is also referred to as glycogen storage disease type II. It is a hereditary disease where people do not have enough of an enzyme called alpha-1,4-glucosidase. Enzymes are proteins that speed up the time of a process. In all tissues, a small amount of glycogen, the storage form of glucose, is brought into the lysosomes. Lysosomes are structures in a cell that use the alpha-1,4-glucosidase enzyme to break down glycogen. Without enough of the enzyme, the glycogen accumulates. Pompe disease is an infiltrative disease of many organs, including the heart.
Hemochromatosis
This is another hereditary disease, but people with hemochromatosis have a gene mutation. Scientists originally thought that there was only one gene involved, but recently discovered there are mutations in more than one gene. The National Institutes of Health reports that scientists now recognize four types of this disease. People have a mutation in one of five genes, but mutations in any of the genes cause the small intestines to absorb too much iron. The iron then deposits and accumulates in various organs including the heart.
Amyloidosis
Amyloidosis is a disease where the amyloid protein deposits and accumulates in tissues and organs of the body. There are different types of amyloidosis, and in one type the amyloid protein accumulates in the heart. This is the AL type where A stands for "amyloidosis" and L stands for "light chain." A light chain is part of an antibody, and the AL type of amyloidosis is usually a result of the secretion of light chains by abnormal plasma cells. Plasma cells are white blood cells that do secrete antibodies. These abnormal ones are clones; the light chains do not fold correctly, but then deposit as amyloid.
Sarcoidosis
Sarcoidosis is a disease that affects many of the organs of the body. It is also a disease where people have many granulomas, or different types of white blood cells that group together to fight an infection. It affects the lungs more than any other organ, but it can also cause an infiltrative disease in the heart. Approximately 20 to 30 percent of people with sarcoidosis have heart abnormalities, per Robert Rho, M.D., in "Hurst's The Heart." This disease can affect a large area of the heart, but it usually focuses on two areas.
References
- "Harrison's Principles of Internal Medicine"; Anthony Fauci, M.D., Dennis Kasper, M.D., Dan Longo, M.D. et al.; 2008
- "Hurst's The Heart"; Valentin Fuster, M.D., Ph.D., Robert O'Rourke, M.D., Philip Poole-Wilson, M.D., Richard Walsh, M.D.; 2008
- National Institutes of Health: Hemochromatosis
- "Principles of Medical Biochemistry"; Gerhard Meisenberg, Ph.D., William Simmons, Ph.D.; 1998
- The Merck Manual for Healthcare Professionals: Primary Hemochromatosis
