Fast Five Quiz: ATTR-CM Presentation and Diagnosis
Owing to the heterogeneity of presentation, diagnosis might be delayed for several years after symptom onset. In addition, the true prevalence of the disease is unknown because many cases go undiagnosed and patients are also often misdiagnosed with more common conditions.
Are you up to date on your understanding of ATTR-CM presentation and diagnosis? Test your knowledge with a quick quiz.
ATTR-CM can affect several organ systems outside of the heart and periphery, disrupting gastrointestinal, genitourinary, auditory, and vision functions. Ocular manifestations (usually caused by vitreous deposits) include conjunctivitis, dry eye, floaters, reduced visual acuity, and eye pain. Regarding other extracardiac manifestations, neuropathic pain, a consequence of deposits in the peripheral nerves, can result in weakness and impaired sensation, as well as autonomic dysfunction that manifests as sexual or urinary dysfunction.
Cardiac manifestations of ATTR-CM can include symptoms associated with chronic heart failure, such as dyspnea on exertion and peripheral edema, and arrythmias (such as syncope).
Learn more about the clinical presentation of ATTR-CM.
Echocardiography can reveal signs of amyloid deposition within the heart. Characteristic imaging findings can include increased ventricular wall thickness, increased septal thickness, valvular thickening, valvular insufficiency, and atrial enlargement. The myocardium might also appear to have a granular "sparkling" appearance, as indicated by bright spots in the image. Although this sign alone is not sufficient to confirm a diagnosis, it is suggestive of ATTR-CM and can help with diagnosis.
Thinning of the valvular walls and reduced septal thickness are usually not indicative of cardiac amyloid deposition. Though increased diastolic volume might be seen in patients with cardiac amyloid deposition, this factor alone is not definitive. Specifically, a common presentation of cardiac amyloidosis is ' rapidly progressive diastolic dysfunction in a nondilated ventricle.'
Learn more about cardiac imaging in AT TR-CM.
Patients who exhibit possible signs of cardiac amyloidosis should be screened using electrophysiology and imaging to detect any abnormalities due to amyloid deposits. If those results are suggestive of cardiac amyloidosis, additional tests must be ordered to determine the amyloidosis type.
The first step in the differential diagnostic pathway includes testing for the presence of monoclonal proteins. A serum/kappa lambda free light chain ratio of < 0.26 or > 1.65 or an abnormal serum/urine immunofixation electrophoresis can indicate amyloid light chain amyloidosis, but alone these factors are usually not definitive for ATTR-CM diagnosis. However, absence of monoclonal proteins and grade 2/3 uptake of 99mTc-pyrophosphate highly indicate AT TR-CM; these factors can be used for diagnosis. TTR mutation does not need to be present for ATTR-CM diagnosis and alone does not strongly indicate this disease; rather, genetic testing for TTR mutations should be conducted to distinguish between hereditary and wild-type ATTR-CM following diagnosis.
Learn more about conducting a workup for ATTR-CM.
Many neurologic symptoms associated with ATTR-CM overlap with those of other conditions, including Charcot-Marie-Tooth disease. Peripheral neuropathy is a common neurologic symptom of ATTR-CM. Other neurologic symptoms can include autonomic dysfunction, gastroparesis, orthostatic hypotension, erectile dysfunction, and urinary incontinence. As such, ATTR-CM might also be misdiagnosed as other hereditary motor and sensory neuropathies, such as Refsum disease. Therefore, these conditions should be included in a differential diagnosis in patients presenting with neurologic symptoms.
Though some with ATTR-CM might experience seizures (usually in cases of patients with leptomeningeal amyloidosis), they are not common. Muscle weakness usually occurs distally in patients with ATTR-CM. Sudden onset of sensory impairment is less common in patients with ATTR-CM and is more characteristic of transthyretin amyloid polyneuropathy.
Learn more about performing a differential diagnosis of ATTR-CM.
Subcutaneous fat aspiration, which is most commonly used for tissue biopsy, can be sufficient for amyloid detection. While biopsy of samples from organs directly involved in ATTR-CM can be advantageous because sensitivity is reportedly higher, subcutaneous fat aspiration is a less invasive method that can be helpful in diagnosis. However, if tissue biopsy is negative in a patient with a high clinical suspicion of ATTR-CM, or if cardiac scintigraphy is unavailable or negative, endomyocardial biopsy should be performed. It is often used to confirm ATTR-CM diagnosis, along with other forms of cardiac amyloidosis.
Learn more about approach considerations for ATTR-CM evaluation.
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To learn more about the new X-ray system, visit About GE HealthCare Technologies Inc. GE HealthCare is a trusted partner and leading global healthcare solutions provider, innovating medical technology, pharmaceutical diagnostics, and integrated, cloud-first AI-enabled solutions, services and data analytics. We aim to make hospitals and health systems more efficient, clinicians more effective, therapies more precise, and patients healthier and happier. Serving patients and providers for more than 125 years, GE HealthCare is advancing personalized, connected and compassionate care, while simplifying the patient's journey across care pathways. Together, our Imaging, Advanced Visualization Solutions, Patient Care Solutions and Pharmaceutical Diagnostics businesses help improve patient care from screening and diagnosis to therapy and monitoring. We are a $19.7 billion business with approximately 53,000 colleagues working to create a world where healthcare has no limits. GE HealthCare is proud to be among 2025 Fortune World's Most Admired Companies™. Follow us on LinkedIn, X, Facebook, Instagram, and Insights for the latest news, or visit our website for more information. _______________________________ 1 510(k) cleared. Not CE marked. Cannot be placed on the market or put into service or used with human beings until it has been made to comply with CE marking and/or regulatory approval. Not all features available in all markets. 2 MV 2019 X-ray CR / DR Market Outlook Report) page 9, 37 3 Pearson, Dave. "Radiology techs in especially high demand as 85% of hospitals seek 'allied' health workers", 23 Oct. 22. View source version on Contacts GE HealthCare Media Contact: Katie ScrivanoM +1 Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
