Diagnosis of Cardiac Transthyretin Amyloidosis by Technetium-99m Pyrophosphate Heart Scan, Confirmed by Genetic Mutations: Case Report

2021 ◽  
Vol 104 (11) ◽  
pp. 1843-1846
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Genetic Testing ◽  
Cardiac Amyloidosis ◽  
Abdominal Fat ◽  
Genetic Mutations ◽  
Fat Pad ◽  
Transthyretin Amyloidosis ◽  
Technetium 99M ◽  
Clinically Significant

Amyloid deposition in the myocardium can cause clinically significant heart failure, which is very difficult to diagnose. The present case reported presented a patient with heart failure, with suspected cause of cardiac amyloidosis, but abdominal fat pad and endomyocardial with Congo red stain biopsies were negative. Due to high suspicion of cardiac amyloidosis, a technetium-99m pyrophosphate (Tc-99m PYP) heart scan was done, which was revealed as strongly suggestive for cardiac transthyretin amyloidosis. So, the patient was sent for genetic testing, and a TTR gene mutation [c.148G>A (p.Val50Met)] was found. Keywords: Cardiac amyloidosis; Endomyocardial biopsy (EMB); Technetium-99m pyrophosphate (Tc-99m PYP) heart scan; Transthyretin amyloidosis (TTR)

scholarly journals Cardiac Amyloidosis Therapy: A Systematic Review

2021 ◽  
Vol 11 (1) ◽  
pp. 10-17
Author(s):  
Franco Iodice ◽  
Marco Di Mauro ◽  
Marco Giuseppe Migliaccio ◽  
Angela Iannuzzi ◽  
Roberta Pacileo ◽  
...  
Keyword(s):  
Heart Failure ◽  
Systematic Review ◽  
Cardiac Amyloidosis ◽  
Restrictive Cardiomyopathy ◽  
Novel Therapies ◽  
Preserved Ejection Fraction ◽  
Cardiac Damage ◽  
Transthyretin Amyloidosis ◽  
To Come ◽  
Almost All

Heart involvement in Cardiac Amyloidosis (CA) results in a worsening of the prognosis in almost all patients with both light-chain (AL) and transthyretin amyloidosis (ATTR). The mainstream CA is a restrictive cardiomyopathy with hypertrophic phenotype at cardiac imaging that clinically leads to heart failure with preserved ejection fraction (HFpEF). An early diagnosis is essential to reduce cardiac damage and to improve the prognosis. Many therapies are available, but most of them have late benefits to cardiac function; for this reason, novel therapies are going to come soon.

Abstract 16136: Underutilization of Appropriate Testing for Transthyretin Amyloidosis Despite Suspicious Clinical & Echocardiographic Findings

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Katelyn Young ◽  
Kinjal Banerjee ◽  
Maulin Patel ◽  
Sangeeta Prabhakar Bhat ◽  
Colin Reynolds ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cardiac Amyloidosis ◽  
Chart Review ◽  
Diagnostic Testing ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Highly Sensitive ◽  
Amyloid Light Chain ◽  
Positive Results ◽  
Echocardiographic Findings

Introduction: Both hereditary (hATTR) and wild-type (wtATTR) transthyretin amyloidosis are under-recognized causes of cardiomyopathy (CM) and heart failure. Certain findings on Transthoracic Echocardiography (TTE) and cardiac Magnetic Resonance Imaging (cMRI) are suggestive but not diagnostic of ATTR. Although biopsy historically has been the gold standard for diagnosis, patients can be diagnosed with the highly sensitive and specific technetium-99m pyrophosphate scan (Tc-99m PYP). Genetic testing is recommended to confirm hATTR in patients diagnosed with ATTR cardiac amyloidosis. Despite growing awareness of this condition, many cases remain undiagnosed. This study evaluated if patients with TTEs concerning for infiltrative CM received appropriate diagnostic testing for ATTR-CM. Methods: Our echocardiography registry was queried from January 2011 to March 2020 for patients with our echo lab’s embedded infiltrative CM code. Data on demographics, comorbidities, TTE variables, cMRI results, PYP scans, genetic testing and biopsy results were retrieved from electronic medical records. Thorough manual chart review excluded other causes of CM. Data was expressed as mean ± SD and n (%). Results: We retrieved 510 patients (mean age 64 ± 16 years; 43% female) with TTEs suspicious for infiltrative CM revealing a mean interventricular septal diameter (IVSd) of 1.6 ± 0.3 cm. Only 67 (13%) patients underwent cMRI with 11 (16%) suggestive of cardiac amyloidosis. Of the patients with suspicious TTEs, 16 (3.1%) had PYP scans and 24 (4.7%) had tissue biopsy, with positive results in 7 (44%) and 11 (46%), respectively. Genetic testing in 31 (6%) patients revealed known hATTR mutations in 2 (6.5%) patients. Cardiac amyloidosis was diagnosed in 23 (4.5%) with 11 ATTR (2 hATTR), 5 amyloid light chain, and 7 unknown subtype. Conclusion: Despite clinical and TTE findings suspicious for ATTR-CM, many patients did not undergo appropriate confirmatory testing (see Figure 1).

scholarly journals Diagnosis of Cardiac Amyloidosis Using Non-Invasive Technics

2021 ◽  
Author(s):  
Eva Strickler ◽  
Ernest Tsiaze ◽  
Gerrit Hellige ◽  
Dominik Zumstein ◽  
Dominik Waldmeier ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Al Amyloidosis ◽  
Definite Diagnosis ◽  
Diagnostic Features ◽  
Transthyretin Amyloidosis ◽  
Cardiac Amyloid ◽  
Non Invasive ◽  
Amyloid Accumulation ◽  
Clinically Significant ◽  
Multiorgan Disease

Amyloidosis is a rare multiorgan disease defined by a process of irreversible, extracellular accumulation of fibrillar proteins in the tissues, including the heart. Cardiac involvement is seen in most forms of amyloidosis, but it is frequently present and clinically significant in light chain (AL)-amyloidosis as well as transthyretin amyloidosis (ATTR). Cardiac amyloid accumulation leads to a restrictive filling pattern, which must be differentiated from other forms of restrictive and hypertrophic cardiomyopathies due to consequences for the treatment. Evolving knowledge of the disease has led to a definite diagnosis of the cardiac amyloidosis (CA) using non-invasive and low-risk diagnostic features, such as scintigraphy (gamma scan) and cardiovascular magnetic resonance (CMR) imaging using late gadolinium enhancement (LGE) and T1 mapping technics. The availability and diagnostic accuracy of these technics has reduced the need for cardiac biopsy. In the following chapter, we will describe common types of CA, the basic concepts, and updates of non-invasive diagnostic features.

Cardiac amyloidosis

ESC CardioMed ◽  
2018 ◽  
pp. 1545-1549
Author(s):  
Martha Grogan
Keyword(s):  
Heart Failure ◽  
Median Survival ◽  
Cardiac Amyloidosis ◽  
Beta Blockers ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Converting Enzyme Inhibitors ◽  
Right Ventricular Wall ◽  
Immunoglobulin Light Chain Amyloidosis

Cardiac amyloidosis is an important cause of heart failure and cardiac arrhythmias, yet cardiologists often miss the diagnosis. Immunoglobulin light-chain amyloidosis (AL) is relatively rare, but likely underdiagnosed. The median survival of untreated patients with cardiac AL is 6 months after the onset of heart failure, highlighting the importance of early diagnosis. Wild-type transthyretin amyloidosis (ATTR) is increasingly recognized, especially in males over the age of 60 years. Although the clinical course of wild-type ATTR is more indolent, the median survival is approximately 3.5 years from diagnosis. Typical echocardiographic findings of increased left and right ventricular wall thickness, diastolic dysfunction, and pericardial effusion may suggest cardiac amyloidosis, along with abnormal delayed gadolinium enhancement and difficulty nulling the myocardium on cardiac magnetic resonance imaging. For AL, a tissue diagnosis is required. In contrast, ATTR may be diagnosed non-invasively with grade 2/3 uptake by nuclear scintigraphy in the absence of a monoclonal protein. Treatment of cardiac amyloidosis is entirely dependent on the type of amyloid and is directed at the underlying precursor protein or disrupting existing deposits. Cardiac care is supportive and challenging. Standard heart failure medications such as beta blockers and angiotensin-converting enzyme inhibitors are not routinely indicated and often cause haemodynamic deterioration. Outcomes of source-directed therapy for AL are improving and several clinical trials of treatment for ATTR are ongoing.

scholarly journals Cardiac Care of Patients with Cardiac Amyloidosis

2020 ◽  
Vol 143 (4) ◽  
pp. 343-351
Author(s):  
Osnat Itzhaki Ben Zadok ◽  
Ran Kornowski
Keyword(s):  
Heart Failure ◽  
Cardiac Amyloidosis ◽  
Management Strategies ◽  
Treatment Strategies ◽  
Multidisciplinary Care ◽  
Cardiac Care ◽  
Immunoglobulin Light Chain ◽  
Transthyretin Amyloidosis ◽  
Immunoglobulin Light Chain Amyloidosis ◽  
Specific Management

Cardiac amyloidosis, the majority of cases of which are due to immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), affects different aspects of the heart and cardiovascular system. Amyloid-induced cardiomyopathy, clinically manifesting with heart failure and electrophysiological abnormalities, has distinct characteristics compared to non-amyloid cardiomyopathies. Accordingly, specific management strategies are required. This paper will review the cardiovascular manifestations of patients with cardiac amyloidosis and their suggested treatment strategies, emphasizing the importance of multidisciplinary care.

scholarly journals A Case Report of Cardiac Amyloidosis Highlighting the Importance of Strain Analysis

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Andres Cordova Sanchez ◽  
Ryan Murphy ◽  
Suman Rao ◽  
Fidel Martinez ◽  
Stephanie Bryant ◽  
...  
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
High Mortality ◽  
Light Chain ◽  
Cardiac Amyloidosis ◽  
Inverse Relationship ◽  
Cardiac Involvement ◽  
Strain Analysis ◽  
Al Amyloidosis ◽  
Cardiac Symptoms

Cardiac involvement in light-chain (AL) amyloidosis has a high mortality. Once cardiac symptoms are present, it is important to make a diagnosis as there is an inverse relationship between mortality and time of diagnosis. Echocardiography is usually one of the first tests performed. But strain analysis, which can provide important clues, is not routinely performed. This is a case of AL amyloidosis presenting with heart failure in which echocardiographic strain analysis was vital for its diagnosis.

scholarly journals Rapid decline in ejection fraction and persistent elevation of troponin associated with cardiac amyloidosis

2020 ◽  
Vol 8 ◽  
pp. 2050313X2092325
Author(s):  
Temidayo Abe ◽  
Eric Y Chang ◽  
Gabrielle De Allie ◽  
Taiwo Ajose ◽  
Chukwuemeka Nwokike ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiac Amyloidosis ◽  
Cardiac Biomarkers ◽  
Rapid Decline ◽  
Unique Case ◽  
Transthyretin Amyloidosis ◽  
Progressive Heart Failure ◽  
The Mean ◽  
Persistent Elevation

Cardiac amyloidosis is an increasingly recognized cause of heart failure. It remains underdiagnosed despite a significant morbidity and mortality rate. The mean survival in patients with cardiac amyloidosis is less than 1 year in untreated primary light-chain amyloidosis and less than 4 years in wild-type transthyretin amyloidosis. We report a unique case of a 78-year-old male with transthyretin cardiac amyloidosis, who presented with persistently elevated troponin and progressive heart failure unresponsive to conventional therapy. With this case, we would like to highlight the role of cardiac biomarkers in the early diagnosis of cardiac amyloidosis.

scholarly journals Strange case of biventricular heart failure

2021 ◽  
Vol 14 (1) ◽  
pp. e239658
Author(s):  
Carloalberto Biolè ◽  
Matteo Bianco ◽  
Antonella Parente ◽  
Laura Montagna
Keyword(s):  
Heart Failure ◽  
Pulmonary Embolism ◽  
Cardiac Amyloidosis ◽  
Left Ventricular ◽  
Pulmonary Congestion ◽  
Transthyretin Amyloidosis ◽  
X Ray ◽  
Infiltrative Cardiomyopathy ◽  
Mild Reduction ◽  
Chest X Ray

Acute heart failure (HF) is commonly caused by a cardiomyopathy with one or more precipitating factor. Here, a case in which a cardiomyopathy is precipitated by pulmonary embolism (PE). A 77-year-old man is admitted for breathlessness and leg swelling. A mild reduction of left ventricular (LV) ejection fraction is found, with moderately increased LV wall thickness and pulmonary hypertension; clinical examination revealed signs of congestion with bilateral leg swelling, and mild signs of left HF with the absence of pulmonary congestion on chest X-ray. The ECG showed Mobitz I second-degree atrioventricular block. The clinical scenario led us to the diagnosis of infiltrative cardiomyopathy due to cardiac amyloidosis (CA) precipitated by PE. Pulmonary embolism is an overlooked precipitant of HF and can be the first manifestation of an underlying misdiagnosed cardiomyopathy, especially CA. 3,3-Diphosphono-1,2-propanodicarboxylic acid scan is a cornerstone in the diagnosis of Transthyretin amyloidosis (ATTR) cardiac amyloidosis.

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