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This type is caused by mutations of proteins involved in amyloid formation, including transthyretin (TTR), fibrinogen, apolipoprotein A1, or apolipoprotein A2. Due to the multiple number of potential genetic causes the incidence of this form is variable. The vast majority of familial cardiac amyloidosis still present after the age of 60. [4]
Amyloid shows up as homogeneous pink material in lamina propria and around blood vessels. 20× magnification. Amyloids are aggregates of proteins characterised by a fibrillar morphology of typically 7–13 nm in diameter , a β-sheet secondary structure (known as cross-β) and ability to be stained by particular dyes, such as Congo red . [ 1 ]
Due to this resistance to degradation, when amyloid fibrils accumulate in the heart's walls, specifically the left ventricle, rigidity prevents the heart from properly relaxing and refilling with blood: this is called diastolic dysfunction which can ultimately lead to heart failure. [2]
Amyloid cardiomyopathy (stiff heart syndrome) [5] is a condition resulting in the death of part of the myocardium (heart muscle). It is associated with the systemic production and release of many amyloidogenic proteins , especially immunoglobulin light chain or transthyretin (TTR). [ 6 ]
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. [1] The disease is caused when a person's antibody -producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains .
Amyloid deposits in tissue can cause enlargement of structures. Twenty percent of people with AL amyloidosis have an enlarged tongue, that can lead to obstructive sleep apnea, difficulty swallowing, and altered taste. [11] Tongue enlargement does not occur in ATTR or AA amyloidosis. [10] Deposition of amyloid in the throat can cause hoarseness ...
Pulse pressure is calculated as the difference between the systolic blood pressure and the diastolic blood pressure. [3] [4]The systemic pulse pressure is approximately proportional to stroke volume, or the amount of blood ejected from the left ventricle during systole (pump action) and inversely proportional to the compliance (similar to elasticity) of the aorta.
In adults, a normal blood pressure is 120/80, with 120 being the systolic and 80 being the diastolic reading. [12] Usually, the blood pressure is read from the left arm unless there is some damage to the arm. The difference between the systolic and diastolic pressure is called the pulse pressure. The measurement of these pressures is now ...