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Topic: Amyloid cardiomyopathy

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	s000411a - Amyloid Heart Disease
		Amyloid fibrils extracted from the heart were: constituted, according to amino acid sequencing and mass spectrometry analysis, by an amino-terminal polypeptide ending: at Val(93) of apolipoprotein A-I (apoA-I); no other significant fragments were detected.
		ANP is the precursor protein of isolated atrial amyloid.: METHODS: We analyzed the immunohistocytochemical localizations of ANP and BNP as well as the expression of their: mRNAs by in situ hybridization in the myocardium and measured the plasma levels of ANP and BNP in patients with: cardiac amyloidosis.
		Whilst immunoreactivity for cardiac peptide hormones is co-localized in atrial amyloid: deposits, it is uncertain whether the increase in natriuretic peptide expression which accompanies cardiac failure: contributes to the incidence of isolated atrial amyloidosis.
	www.emory.edu /WHSCL/grady/amreport/litsrch99/s000411a.html (4960 words)

	Cardiomyopathy - Wikipedia, the free encyclopedia
		Cardiomyopathy, which literally means "heart muscle disease", is the deterioration of the function of the myocardium (i.e., the actual heart muscle) for any reason.
		Cardiomyopathy of any cause typically leads to signs and symptoms of heart failure as the pumping efficiency of the heart is diminished.
		Ischemic cardiomyopathy is a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause.
	en.wikipedia.org /wiki/Cardiomyopathy (750 words)

	Restrictive Cardiomyopathy: Cardiomyopathy: Merck Manual Home Edition
		Restrictive (infiltrative) cardiomyopathy includes a group of heart disorders in which the walls of the ventricles become stiff, but not necessarily thickened, and resist normal filling with blood between heartbeats.
		Amyloid, an unusual protein not normally present in the body, may accumulate in heart muscle and other tissues, causing amyloidosis (see Amyloidosis).
		Restrictive cardiomyopathy is one of the possible causes investigated when a person has heart failure.
	www.merck.com /mmhe/sec03/ch026/ch026d.html (555 words)

	s000607a - Cardiac Amyloidosis
		Amyloid deposits in all 91 hearts reacted with alpha-ANP and AP antisera, and in four hearts other amyloid: deposits that reacted with TTR antiserum were coincidentally seen in the atria.
		Amyloid of the: TTR type was identified by immunohistochemistry in the endomyocardial biopsy specimen.
		Abstract: Infiltrative cardiomyopathies can be divided by disease into infiltrative and storage disorders that show an increase in: ventricular wall thickness caused by infiltration of pathologic substances between cells, as with amyloid and sarcoid, or: deposition within cells, as with iron, glycogen, and lipid.
	www.emory.edu /WHSCL/grady/amreport/litsrch99/s000607a.html (6803 words)

	TSRI - News & Views
		An analogous disease called familial amyloid cardiomyopathy (FAC), which is caused by deposition of a few variants of TTR in the heart, leads to cardiac dysfunction and ultimately congestive heart failure.
		Similarly, misfolded and misassembled amyloid beta proteins are thought to be a major player in Alzheimer's disease, because they can accumulate into the fibrils and plaques that autopsies reveal in the brains of patients with the disease.
		Familial amyloid polyneuropathy patients have amyloid plaques in their peripheral neurons, for instance, and familial amyloid cardiomyopathy patients have amyloid plaques in their hearts, whereas CNS selective amyloid patients have deposits in their brains.
	www.scripps.edu /newsandviews/e_20050418/amyloid.html (2261 words)

	Restrictive Cardiomyopathy
		In the United States, restrictive cardiomyopathy is most commonly related to the following: amyloidosis, in which abnormal protein fibers (amyloid) accumulate in the heart's muscle; sarcoidosis, an inflammatory disease that causes the formation of small lumps in organs; and hemochromatosis, an iron overload of the body, usually due to a genetic disease.
		In general, restrictive cardiomyopathy does not appear to be inherited; however, some of the diseases that lead to the condition are genetically transmitted.
		A physician may suspect restrictive cardiomyopathy based on a patient's symptoms and the presence of another disease.
	healthlink.mcw.edu /article/928682333.html (407 words)

	Amyloidosis -- Khan and Falk 77 (913): 686 -- Postgraduate Medical Journal
		Serum amyloid P component scintigraphy and turnover studies for diagnosis and quantitative monitoring of AA amyloidosis in juvenile rheumatoid arthritis.
		Secreted amyloid beta-protein similar to that in the senile plaques of Alzeimer's disease is increased in vivio by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.
		Amyloid P component and the diagnosis of amyloidosis.
	pmj.bmjjournals.com /cgi/content/full/77/913/686 (4204 words)

	Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man -- Gillmore et al. 82 ...
		Amyloid deposits may affect any organ of the body but the factors governing their anatomical distribution are poorly understood.
		This is the first reported case of familial amyloid cardiomyopathy associated with TTR Ile122 in a white patient.
		Amyloid deposits of wild-type TTR are found in 25% of hearts from people over 80 years old, examined after death.
	heart.bmjjournals.com /cgi/content/full/82/3/e2 (1109 words)

	Homo sapiens molecular nosology - Immunocytic amyloidosis
		Amyloid involving the liver occurs in approximately 16% of patients and is characterized by palpable hepatomegaly, elevation of the serum alkaline phosphatase, and no imaging abnormalities by CT or magnetic resonance imaging (MRI).
		Amyloid neuropathy due to a mutation of TTR presents with all the same clinical features of neuropathy seen in primary systemic amyloidosis.
		the most common cause of death in amyloid is cardiac, either due to progressive congestive cardiomyopathy or sudden death due to ventricular fibrillation or asystole.
	focosi.immunesig.org /pathohomotissueblood_amyloidosis.html (7865 words)

	Arthritis Research Campaign \| AA Amyloidosis (Site not responding. Last check: 2007-10-19)
		The term 'amyloid' means 'starch-like' and refers to the atypical staining properties of autopsy specimens with iodine sulphuric acid as described by Virchow in 1854 (1).
		The amyloid fibrils have a typical electron microscopic appearance with a diameter of 10-15 nm, consisting of polypeptides arranged in a twisted ß-pleated sheet.
		This is the principle component of all amyloid deposits irrespective of the clinical types, genetic or acquired varieties, or experimentally induced as in experimental models of amyloidosis.
	www.arc.org.uk /about_arth/med_reports/series3/tr/6408/6408.htm (2947 words)

	InteliHealth:
		Cardiomyopathy refers to changes in the heart muscle that prevent part or all of the heart from contracting normally.
		The most common heart diseases that lead to a dilated cardiomyopathy are coronary artery disease, and prolonged untreated high blood pressure.
		Other diseases that can cause cardiomyopathy include myocarditis (heart muscle inflammation, often starting as a viral infection or after a women gives birth), untreated thyroid disorders, inherited genetic diseases, and disorders in which the heart muscle is overloaded with iron or a protein called amyloid.
	www.intelihealth.com /IH/ihtIH/WSIHW000/9339/9676.html (871 words)

	Some Heritable Diseases Cause Cardiomyopathy (Site not responding. Last check: 2007-10-19)
		Amyloids are fibrous proteins that can accumulate outside of cells all over the body.
		Inherited forms of cardiomyopathy due to amyloid plaques – called familial amyloid cardiomyopathies – are inherited in an autosomal dominant fashion, which means that you only need to inherit a mutated copy of the gene from one parent in order to be at risk.
		Researchers don't know how common familial amyloid cardiomyopathies are because the disease is often not diagnosed.
	www.genetichealth.com /HD_Other_Diseases_that_Cause_Cardiomyopathy.shtml (506 words)

	Cardiomyopathy
		Cardiomyopathy can be caused by many disorders, or the cause may not be known.
		Amyloid, an unusual protein not usually found in the body, may gather in the heart muscle and other tissues in amyloidosis.
		Treatment of hypertrophic cardiomyopathy is aimed primarily at reducing the heart's resistance to filling with blood between heartbeats.
	www.csmc.edu /5513.html (1611 words)

	UpToDate Genetic factors in the amyloid diseases
		Electron microscopic examination of the ultrastructure of amyloid deposits generally demonstrates straight and unbranching fibrils, which may be composed of protofilaments at higher resolution [3].
		Routes to fibrillogenesis include partial folding or unfolding of the precursor protein that may be facilitated by acidification or proteolysis, and accelerated by nucleation [4].
		Some amyloid disorders appear to be due entirely to heritable abnormalities in precursor proteins.
	patients.uptodate.com /topic.asp?file=othrheum/13759 (521 words)

	Restrictive Cardiomyopathy
		â¢ Restrictive cardiomyopathy, the rarest form of cardiomyopathy, is a condition in which the walls of the lower chambers of the heart (the ventricles) are abnormally rigid and lack the flexibility to expand as the ventricles fill with blood
		Restrictive cardiomyopathy is not usually inherited and its cause is often unknown.
		In some cases, restrictive cardiomyopathy may be confused with constrictive pericarditis, a condition in which the layers of the pericardium (the sac that surrounds the heart) become thickened, calcified and stiff.
	www.metrohealth.org /body.cfm?id=1510 (595 words)

	E-Journal - Volume 1 - Restrictive amyloid heart - the amyloidogenic proteins drive specific therapeutic choices
		In the non-senile, autosomal dominant Transthyretin Amyloidosis (ATTR), amyloid fibrils are constituted of defective proteins synthesized by the mutated TTR allele (more than 70 known mutations, with different genotype-phenotype correlations).
		In SAA-amyloidosis, the amyloidogenic protein is the acute-phase Serum Amyloid A protein that is produced in excess in chronic inflammatory diseases such as chronic infections, autoimmune disorders and familial mediterranean fever.
		ApoA1- and TTR-amlyoidosis: positive family history, immunocharacterization of the amyloid fibrils in a tissue biopsy, gene defect detection and absence of light chains in serum and urines.
	www.escardio.org /knowledge/cardiology_practice/ejournal_vol1/Vol1_no2.htm (609 words)

	Echocardiography
		Amyloid deposition as a cause of atrial remodelling in persistent valvular atrial fibrillation European Heart Journal Volume 25, Number 14 Pp.
		Echocardiographic assessment of diagnosis and prognosis of biopsy-proven amyloid cardiomyopathy
		Amyloid cardiomyopathy is myocardial infiltrative disorder which mostly has been seen as the consequence of systemic amiloidosis.
	www2.umdnj.edu /~shindler/amyloid.html (2645 words)

	_08r
		Immunohistochemistry on tissue amyloid, biochemical analysis of serum and urine proteins, and DNA sequencing are usually employed to determine the disease-related amyloid fibril protein.
		Demonstration of amyloid deposition on biopsied tissues is clinically definitive: endomyocardial biopsy is not always required, alternatively biopsy of gastric and rectal mucosa, skin, and aspirated abdominal fat tissue is recommended.
		It is well known that in this disease the age of onset differs greatly between patients in endemic foci and those in nonendemic areas (39, 47): the age of onset in the vast majority of the former patients is the late twenties to early forties, and the early fifties to late sixties in the latter.
	www.naika.or.jp /im2/43/12/08r.aspx (3810 words)

	2001 Indiana ACP-ASIM Associates Absract Competition
		Isoleucine 122 (Ile122) causes amyloid cardiomyopathy at advanced age (>60) and is associated with a minor degree of neuropathy.
		The anginal pain, also present with amyloid cardiomyopathy, is frequently misleading the clinician toward ischemic cardiomyopathy.
		Discussion: This case illustrates that severe Dilated Cardiomyopathy or acute Pulmonary Edema could be the initial manifestation of BMD and thus predating the onset of clinical neuromuscular symptoms for years.
	www.acponline.org /chapters/in/abstracts01.htm (5396 words)

	Transthyretin - Wikipedia, the free encyclopedia
		TTR is known to be associated with the amyloid diseases senile systemic amyloidosis (SSA), familial amyloid polyneuropathy (FAP), and familial amyloid cardiomyopathy (FAC).
		Treatment of TTR amyloid disease is currently limited to liver transplantation as a crude form of gene therapy.
		As with most amyloid diseases, it is still unclear whether the deposition of amyloid is the cause of the disease or a correlate of some upstream toxic process.
	en.wikipedia.org /wiki/Transthyretin (585 words)

	MedlinePlus Medical Encyclopedia: Cardiac amyloidosis
		Amyloidosis refers to buildup of a fibril called amyloid in tissues anywhere in the body.
		Cardiac amyloidosis is the most typical restrictive cardiomyopathy, and it is also known as “stiff heart syndrome.” Much less frequently, cardiac amyloidosis leads to dilated cardiomyopathy.
		A cardiac biopsy that reveals amyloid confirms the diagnosis.
	www.nlm.nih.gov /medlineplus/ency/article/000193.htm (892 words)

	Scripps scientists discover new approach for treating 'misfolding diseases'
		These amyloid diseases are caused by proteins misfolding into a structure that leads them to cluster together, forming microscopic fibril plaques made up of hundreds of these misfolded proteins.
		Once the subunits are free, they misfold and reassemble into the hair-like amyloid fibrils.These fibrils cause the disease FAP by building up around peripheral nerve and muscle tissue, disrupting their function and leading to numbness, muscle weakness, and--in advanced cases--failure of the autonomic nervous system including the gastrointestinal tract.
		Kelly's approach is to prevent amyloid formation by stabilizing the native state of proteins--keeping them folded in their proper form.
	www.eurekalert.org /pub_releases/2003-01/sri-ssd012703.php (740 words)

	Multiple myeloma complicated by restrictive cardiomyopathy and cardiac tamponade CHEST - Find Articles (Site not responding. Last check: 2007-10-19)
		Restrictive cardiomyopathy from amyloid deposition within the myocardium is a well-described complication of multiple myeloma; however, myelomatous involvement of pericardium with subsequent cardiac tamponade has rarely been described.
		Despite the absence of detectable recurrent effusion, the patient died suddenly from causes felt unrelated to pericardial disease.
		Restrictive cardiomyopathy from amyloid deposition in the myocardium is a well-described complication of multiple myeloma; however, myelomatous involvement of the pericardium with subsequent cardiac tamponade has been described in only a few reports.[1-3] Optimal treatment for malignant involvement of the pericardium by myeloma cells has yet to be established.
	www.findarticles.com /p/articles/mi_m0984/is_n3_v103/ai_13720537 (856 words)

	txt001msp: Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies
		For example, AL amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils (Ref. 2).
		This mutant was shown later to exist in vivo, in an Italian patient with late-onset severe amyloid cardiomyopathy (Ref. 37).
		These studies suggest that amyloid fibril formation by some TTR mutants might be triggered by tetramer dissociation to a compact non-native monomer with low conformational stability, which results in partially unfolded monomeric species with a high tendency for ordered aggregation into amyloid fibrils (Ref. 38).
	www-ermm.cbcu.cam.ac.uk /02004647h.htm (4195 words)

	Clinical Reports (Site not responding. Last check: 2007-10-19)
		The term ‘amyloid’ means ‘starch-like’ and refers to the atypical staining properties of autopsy specimens with iodine sulphuric acid as described by Virchow in 1854 (1).
		The amyloid fibrils have a typical electron microscopic appearance with a diameter of 10-15 nm, consisting of polypeptides arranged in a twisted ß-pleated sheet.
		This is the principle component of all amyloid deposits irrespective of the clinical types, genetic or acquired varieties, or experimentally induced as in experimental models of amyloidosis.
	webrheum.bham.ac.uk /professional/general/ClinicalReports.htm (14866 words)

	eMedicine - Amyloidosis, Transthyretin-Related : Article Excerpt by: Seetha U Monrad, MD
		One of the 20 proteins that form human amyloid fibrils is transthyretin (TTR).
		The systemic amyloidoses are designated by a capital A (for amyloid) followed by the abbreviation for the chemical identity of the fibril protein.
		When the heart is involved heavily but the nerves are not, the disease is called familial amyloid cardiomyopathy (FAC).
	www.emedicine.com /med/byname/amyloidosis-transthyretin-related.htm (705 words)

	Newswise
		Misfolding of TTR is the cause of familial neuropathies and cardiomyopathies, and the Scripps Research team found that genistein could prevent it—at least in the test tube.
		Often in familial amyloid polyneuropathy, one of the genes has a heritable defect, and this causes hybrid tetramers to form that are composed of mutant and normal subunits.
		Another amyloid disease affecting the heart, Senile Systemic Amyloidosis (SSA), afflicts an estimated 10 to 15 percent of all Americans over the age of 80 and results from the deposition of the normal form of transthyretin.
	www.newswise.com /articles/view/515100 (991 words)

	Amyloid in the cardiovascular system: a review -- Kholová and Niessen 58 (2): 125 -- Journal of Clinical ...
		Amyloid is either indistinct or associated with a waxy cut surface.
		amyloid and hypertension or dissecting aneurysm was observed.
		Immunohistochemical and pathological characteristics of dystrophic amyloid in surgically excised cardiac valves.
	jcp.bmjjournals.com /cgi/content/full/58/2/125 (5189 words)

	Screening Clinic
		Even if you are not currently experiencing any symptoms of cardiomyopathy, screening is important to detect early signs of the condition.
		Meet with a genetic counselor to discuss your family history, genetics of cardiomyopathy, whether or not there are any genetic tests available that may be appropriate to consider for you and your family and your personal future screening recommendations.
		If early signs of cardiomyopathy are detected upon screening, a doctor will discuss these results with you at the time of your appointment.
	www.hopkinsmedicine.org /cardio/heart/screening_clinic.htm (438 words)

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