Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Senile systemic amyloidosis (SSA) results from deposition, predominantly in the heart, of amyloid fibrils derived from wild-type transthyretin (T TR) molecules. Cardiac autopsies indicate that SSA progressively increases in subjects 80 years of age and older. However, only a few cases of patients with SSA and cardiac failure have been recognized by cardiac biopsies during life. Here, we report a case of heart transplantation in a 68-year-old male patient with SSA. After cardiopulmonary resuscitation in October 1998, he underwent complete evaluation. Myocardial biopsies revealed the presence of amyloid deposition. Immunohistochemical staining of the amyloid indicated T TR. Genomic DNA analysis of the T TR exons did not result in any identification of a mutation. In 2001, heart transplantation was performed because progressive heart failure occurred. At the 1-year follow-up, no amyloid deposits were found in the donor heart. At the 2-year follow-up, the patient's physical and mental health was excellent. We conclude that heart transplantation can be an effective treatment in progressive heart failure due to SSA.
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PMID:Heart transplantation in a 68-year-old patient with senile systemic amyloidosis. 1581 1

Senile systemic amyloidosis (SSA) is a main cause of intractable heart failure in elderly individuals. To demonstrate transthyretin (TTR)-derived amyloid deposition endomyocardial biopsy has been commonly carried out in the patients with SSA, but this invasive biopsy technique cannot always be performed in aged patients with severe cardiac dysfunction. During the past 3 years, 11 patients with SSA (6 males and 5 females; ages from 70 to 97 years) were examined. All underwent skin biopsy from the abdominal wall and 8 showed TTR-immunoreactive amyloid deposition (sensitivity: 73%): amyloid deposits were seen mainly in the deep layer of subcutaneous fat tissue and showed a patchy distribution. They were weakly Congophilic, but were strongly immunolabeled by an anti-TTR antibody. The severity and pattern of amyloid deposition in this biopsy of SSA patients were considerably different from those obtained from age-matched patients with TTR-related familial amyloid polyneuropathy. Surgical skin biopsy including the deep subcutaneous fat pad can be performed safely at the bedside and is useful for the histopathological diagnosis of SSA.
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PMID:Diagnostic value of abdominal wall fat pad biopsy in senile systemic amyloidosis. 2200 60

Senile systemic amyloidosis (SSA) is a form of amyloidosis associated with aging, and is characterized by deposition of amyloid fibrils derived from wild-type transthyretin. Amyloid deposition is mainly seen in the myocardium, resulting in arrhythmia (atrial fibrillation) and/or heart failure. Previously, SSA was thought to represent a disease of aged patients over 80 years only; however, recent studies have indicated that SSA also affects much younger patients, with an onset around 50 years. In addition, a number of patients with SSA present with carpal tunnel syndrome (CTS), often several years prior to the onset of heart failure. Hence, CTS may be a key symptom suggestive of SSA, and amyloid deposits should always be confirmed in the operation specimens obtained during carpal tunnel release surgery in CTS patients aged over 50 years. Recently, effective drugs such as tafamidis and diflunisal, which stabilize the structure of the transthyretin tetramer, have been established in FAP patients, and therapeutic effectiveness of these drugs is also anticipated for SSA patients.
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PMID:[Senile systemic amyloidosis]. 2499 26

Senile systemic amyloidosis is caused by a non-mutated form of transthyretin with the heart being the major organ involved. This infiltrative cardiomyopathy usually presents as slowly progressive heart failure. An 82-year-old female patient was admitted for newly diagnosed heart failure. A year later she presented with decompensated heart failure and syncope. Inpatient work-up showed persistently elevated troponin and N-terminal-pro BNP levels, rapid progression to severe left ventricular concentric hypertrophy, and sinus pauses on the Holter. Cardiac MRI revealed diffuse late gadolinium enhancement in the left ventricle. The demonstration of amyloid protein with the clinical findings and complementary investigations allowed for the diagnosis of senile systemic amyloidosis.
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PMID:Senile Systemic Amyloidosis: An Underdiagnosed Disease. 3075 70