Dataset Information

Don't judge a book by its cover: a case report of apolipoprotein A-IV cardiac amyloidosis.

ABSTRACT:

Background

To date, at least 20 different amyloidogenic proteins have been documented. Growing evidence suggests that despite being part of the universal amyloid proteome, apolipoprotein A-IV can be amyloidogenic, accounting for less than 1% of cases.

Case summary

A 75-year-old woman was admitted for paroxysmal nocturnal dyspnoea and intermittent exertional shortness of breath and was found to be in acute heart failure. The patient underwent intravenous diuretic therapy and was discharged after decongestion. She then underwent a battery of outpatient tests to determine aetiology of her heart failure. Cardiac magnetic resonance imaging showed severe concentric left ventricular hypertrophy and diffuse late gadolinium enhancement, concerning for amyloidosis, but serologic evaluation for amyloidogenic light chain (AL) amyloidosis was negative. Tc 99m pyrophosphate (PYP) scan showed Grade 2 uptake at 1 h that was only moderately suggestive of transthyretin (TTR) amyloidosis. She ultimately received a right heart catheterization and endomyocardial biopsy, which showed apolipoprotein A-IV amyloid deposition within Congo red-positive areas of the endomyocardial specimen. The patient continues to report dyspnoea on exertion but has avoided additional heart failure admissions with intensification of her diuretic regimen.

Discussion

In this case, nuclear PYP scan to evaluate for TTR amyloidosis demonstrated focal PYP uptake, but endomyocardial biopsy demonstrated apolipoprotein A-IV deposition without evidence of TTR amyloidosis. Our case increases knowledge of this rare form of amyloidosis, suggests that it may result in false positive nuclear PYP results, and highlights the importance of its evaluation, particularly in circumstances in which investigations do not reveal definitive evidence of AL or TTR amyloidosis.

SUBMITTER: Basel Allaw M

PROVIDER: S-EPMC10481775 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Publications

Don't judge a book by its cover: a case report of apolipoprotein A-IV cardiac amyloidosis.

Basel Allaw Mohammed M Sinha Arjun A Ghafourian Kambiz K Avery Ryan R Weinberg Richard L RL Lomasney Jon W JW Shah Sanjiv J SJ Patel Ravi B RB

European heart journal. Case reports 20230725 8

<h4>Background</h4>To date, at least 20 different amyloidogenic proteins have been documented. Growing evidence suggests that despite being part of the universal amyloid proteome, apolipoprotein A-IV can be amyloidogenic, accounting for less than 1% of cases.<h4>Case summary</h4>A 75-year-old woman was admitted for paroxysmal nocturnal dyspnoea and intermittent exertional shortness of breath and was found to be in acute heart failure. The patient underwent intravenous diuretic therapy and was di ...[more]

PMID: 37681056

Similar Datasets

Project description:BackgroundCardiac amyloidosis presentation in an affected individual can be varied. We describe a patient who had the entire spectrum of involvement in his life time. Initially presented as an ischaemic heart disease and later developed complete heart block (CHB) and frank cardiomyopathy. Increased load of amyloid caused lead-tissue interface disruption resulting in high pacing thresholds with difficulty in capture during permanent pacemaker implantation requiring a novel strategy of management.Case summaryA 65-year-old male presented with two episodes of syncope with a history of gradually progressive dyspnoea of 6 months duration along with lower limb swelling for last 1-2 months. He had a history of drug-eluting stent implantation for stable ischaemic heart disease 4 years back. Now he presented with a CHB and a transthoracic echocardiogram hinted towards a restrictive physiology and an infiltrative disease. Cardiac magnetic resonance imaging could not be done in view of the incompatible temporary pacemaker on which the patient was dependent. Abdominal fat pad biopsy was positive for amyloid. He was taken up for permanent pacemaker implantation; however, multiple attempts could not achieve desired threshold and capture amplitudes in the right ventricular apex, septum, or outflow region. The lead was placed in the coronary sinus and a stent was placed proximally to trap the lead behind the deployed stent. Threshold and impedance were satisfactory. Cardiac biopsy subsequently confirmed aTTR amyloidosis.DiscussionThe patient had an ischaemic heart disease, conduction disease, and cardiomyopathy as the manifestation of cardiac amyloidosis. While two-dimensional echo is the screening tool of choice, cardiac biopsy remains the gold standard of diagnosis for amyloidosis. Cardiac pacing comes with its own unique set of challenges in patients with advanced amyloid cardiomyopathy and have to be overcome for symptomatic benefit of the patient. Coronary sinus may be utilized in such patients for single-site ventricular pacing and placing a stent may help to anchor the lead when placed within it.

Dataset Information

Don't judge a book by its cover: a case report of apolipoprotein A-IV cardiac amyloidosis.

Background

Case summary

Discussion

Publications

Don't judge a book by its cover: a case report of apolipoprotein A-IV cardiac amyloidosis.

Similar Datasets

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