Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting

Transthyretin amyloidosis can be either the wild-type (ATTR-wt) or the hereditary form (ATTR-m) with autosomal dominant inheritance. ATTR seems to be an underdiagnosed disease, despite now being recognized as one of the most frequent causes of heart failure (HF) with preserved ejection fraction. The confirmation of diagnosis includes a genetic analysis as a critical step to distinguish between ATTR-wt and hereditary amyloidosis. The present study aimed to evaluate the potential application of High-Resolution Melting (HRM) analysis for identifying gene mutations in patients with suspected ATTR-m.
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research

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We present the data on the prevalence of ATTR-CA in AS and their prognostic associations. Since diagnosis of ATTR-CA may be challenging, special attention is paid to the diagnostic utility of different imaging modalities, echocardiography, cardiovascular magnetic resonance, nuclear imaging, and distinctive imaging features in patients with dual pathology. We also present a flow diagram summarizing integrated imaging in patients with suspected ATTR-CA. PMID: 31740363 [PubMed - as supplied by publisher]
Source: Hellenic Journal of Cardiology - Category: Cardiology Tags: Hellenic J Cardiol Source Type: research
Conclusion: Tafamidis is an effective and safe oral medication for the treatment of the cardiomyopathy of transthyretin-mediated amyloidosis in adults to reduce cardiovascular mortality and cardiovascular-related hospitalization. PMID: 31735059 [PubMed - as supplied by publisher]
Source: The Annals of Pharmacotherapy - Category: Drugs & Pharmacology Authors: Tags: Ann Pharmacother Source Type: research
Transthyretin amyloid deposition is present in 17% of autopsies of patients with heart failure and a preserved ejection fraction (HFpEF). 99mTechnetium-pyrophosphate scintigraphy (99mTc-PYP) is sensitive and specific to diagnose cardiac transthyretin amyloid deposition (ATTR). The prevalence of ATTR by 99mTc-PYP was evaluated along with echocardiographic parameters in patients with HFpEF. One-hundred consecutive patients with HFpEF, who had 99mTc-PYP, were retrospectively evaluated. Echocardiographic variables were analyzed to compare patients with positive versus negative ATTR infiltration. Myocardial ATTR was present in ...
Source: Critical Pathways in Cardiology - Category: Cardiology Tags: Original Articles Source Type: research
Publication date: Available online 4 November 2019Source: Canadian Journal of CardiologyAuthor(s): Kevin M. Alexander, Ronald M. WittelesAbstractCardiac amyloidosis is a potentially deadly disease characterized by progressive infiltration of amyloid fibrils, and is increasingly recognized as an underdiagnosed but important cause of heart failure. Given its unique pathogenesis, there are key differences in the management of cardiac amyloidosis compared to other forms of heart failure. Moreover, the two common forms of cardiac amyloidosis, transthyretin and light chain amyloidosis, are distinct entities with varying clinical...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
Authors: Nehashi T, Oikawa M, Amami K, Kanno Y, Yokokawa T, Misaka T, Yamada S, Kunii H, Nakazato K, Ishida T, Takeishi Y Abstract Hereditary ATTR amyloid cardiomyopathy is defined as the intramyocardial deposition of amyloid fibrils derived from the mutation of transthyretin (TTR). A 51-year-old man was referred to our hospital for congestive heart failure. He and his family had no past history of heart diseases. Echocardiography showed remarkable left ventricular hypertrophy and reduced ejection fraction. Endomyocardial biopsy specimens presented positive staining of Congo-Red and transthyretin. A genetic test sh...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Conclusion: Initial screening and follow-up for cardiac involvement are important for heavy and light chain amyloidosis. Further investigation for the prognosis of heavy and light chain amyloidosis is required to improve the strategies of diagnosis and treatment options for patients with this disease.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
In conclusion, we provide novel insights regarding the molecular basis of ATTRm and ATTRwt based on large-scale cohort, expanding our understanding of the phenotypic spectrum associated withTTR gene variation.
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsRisk stratification for cardiac amyloidosis with the newly developed “HeiRisk” score may be superior to other staging systems for patients with advanced heart failure due to amyloid cardiomyopathy.
Source: Clinical Research in Cardiology - Category: Cardiology Source Type: research
CONCLUSIONS: Risk stratification for cardiac amyloidosis with the newly developed "HeiRisk" score may be superior to other staging systems for patients with advanced heart failure due to amyloid cardiomyopathy. PMID: 31630214 [PubMed - as supplied by publisher]
Source: Clin Med Res - Category: Research Authors: Tags: Clin Res Cardiol Source Type: research
We present the case of an 84-year-old man with chest tightness, dyspnoea, and ascites. He had a history of dyslipidaemia and ischaemic heart disease. Initial investigations showed severe diastolic dysfunction and elevated pulmonary artery systolic pressure on echocardiogram along with elevated serum natriuretic peptides. Further evaluation by a magnetic resonance imaging scan of the heart and endomyocardial biopsy confirmed the diagnosis of senile systemic amyloidosis. He made good progress after treatment with conventional heart failure drugs and is currently under consideration to start on specific medications to slow do...
Source: Journal of the Saudi Heart Association - Category: Cardiology Source Type: research
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