The current status of quantitative SPECT/CT in the assessment of transthyretin cardiac amyloidosis
AbstractNuclear medicine bone scans differentiate ATTR cardiomyopathy (ATTR-CM) from light chain cardiac amyloidosis and other myocardial disorders, helping to make the diagnosis without biopsy. Standard bone scans are not absolutely quantitative, so are assessed by comparing the heart to other tissues. The standard visual scoring system compares heart to bone. This accurately diagnoses ATTR-CM and has been validated in a multicenter study, but has limitations. Semiquantitative techniques including heart/contralateral thorax (H/CL) and heart/whole body ratio (H/WB) improve on visual scoring but still rely on extracardiac sites as comparators. Absolute quantitation of myocardial uptake using quantitative SPECT should help overcome these shortcomings. In ATTR-CM, this technique is practical, accurately makes the diagnosis and provides information that is not identical to visual scores. However, more work needs to be done. The reproducibility in ATTR-CM must be tested. Larger studies need to be undertaken to determine whether quantitative SPECT measurements can assess prognosis, disease progression or treatment response. As ATTR-CM is relatively uncommon multicenter trials will help recruit enough subjects to answer these questions. Accurate measurement techniques are needed in ATTR-CM to enable appropriate use of proven therapy and to conduct trials of new therapeutic agents. Quantitative bone scans offer a promising avenue.
AbstractPurpose of reviewTransthyretin amyloid cardiomyopathy (ATTR-CM) is a disease with high morbidity and mortality. This disease is significantly underdiagnosed and is more common than previously appreciated, particularly among older adults and people of African descent. This review discusses recent advances in the diagnosis and treatment for ATTR-CM.Recent findingsHistorically, ATTR-CM was diagnosed via endomyocardial biopsy, a resource-intensive and invasive approach. However, in most cases, ATTR-CM can now be diagnosed non-invasively using bone tracer cardiac scintigraphy, which may facilitate earlier diagnosis. In ...
We present not ‐yet‐seen multimodal images of a 55‐year‐old female patient with isolated atrial amyloidosis (IAA) who clinically suffered from multiple atrial arrhythmias and heart failure symptoms with preserved left ventricular ejection fraction. We aim to show structural and functional abnormalities det ected by electrophysiological voltage mapping, cardiac magnetic resonance imaging (MRI) [cMRI; atrial strain measurements, late gadolinium enhancement (LGE) visualization], and99mTc ‐DPD scintigraphy. Bipolar voltage mapping performed during two electrophysiological procedures showed diffuse left atrial low‐v...
Heart failure due to cardiomyopathy is a frequent manifestation of hereditary transthyretin amyloidosis (hATTR), a progressive, multisystem, and fatal disease that results from the deposition of misfolded transthyretin (TTR) protein in major organs and systems. Other common symptoms are due to polyneuropathy and carpal tunnel syndrome. The hATTR Compass Program offers confidential genetic testing to patients in the United States, Canada, and Puerto Rico suspected of having hATTR with polyneuropathy or with a family history of hATTR.
Wild-type transthyretin amyloidosis (ATTRwt) is an infiltrative cardiomyopathy (CM) underdiagnosed in older adults. The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, observational survey of patients with inherited (ATTRv) and ATTRwt amyloidosis, and asymptomatic gene carriers. Temporal trends in ATTRwt diagnosis were explored in this analysis.
We present three patients with CA and mitral regurgitation (MR) who have undergone this procedure.
This study aims to describe the long-term comprehensive, integrated safety data from the patisiran clinical development program in patients with hATTR amyloidosis with polyneuropathy.
Hereditary transthyretin amyloidosis (hATTR) is a progressive, fatal disease caused by systemic deposition of misfolded transthyretin (TTR) fibrils resulting in cardiomyopathy (CM) and polyneuropathy (PN). Treatment options include stabilizers (tafamidis) to prevent TTR tetramer dissociation, silencers (inotersen, patisiran) that inhibit hepatic TTR synthesis, or liver transplantation. Silencers have favorable outcomes in PN, with limited data on CM. This case highlights improvement in hATTR-CM in a patient treated with inotersen.
Transthyretin amyloidosis (ATTR) is a progressive, fatal disease caused by the formation of amyloid fibrils that misfold and accumulate in various tissue in the body, including the heart, leading to a form of heart failure called transthyretin amyloidosis cardiomyopathy (ATTR-CM). ATTR-CM consists of two subgroups: a wild-type (ATTR-wt) or an inherited mutant autosomal dominant gene (hATTR). ATTR-wt and hATTR have an estimated median survival 3.6 years and 2.5 years after diagnosis, respectively.
Restrictive cardiomyopathy in cardiac amyloidosis (CA) mainly occurs due to light chain (AL) or transthyretin (ATTR) protein deposition in the myocardium. Recurrent congestion related to HF can be challenging to manage in CA, often requiring high dose diuretics and frequent hospitalizations. Though therapies are available for CA that may prolong survival, these do not reverse the cardiomyopathy that may be present at time of diagnosis. Innovative outpatient strategies are needed to effectively manage HF in patients with CA.
Patients with transthyretin amyloidosis manage a chronic, life-threatening condition that severely affects their quality of life. Although the primary symptoms and diagnostic criteria for transthyretin amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN) are well established, very little has been published on patient and family experience of these conditions. Two focus groups, one for ATTR-CM and one for ATTR-PN, were asked to describe the diagnostic process, symptoms, and impact on quality of life that they experienced from these illnesses.