Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report

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dc.contributor.authorMagalhães, Gabriela Carvalho Monnerat
dc.contributor.authorBezerra, Luciana Coutinho
dc.contributor.authorBinensztok, Beny
dc.contributor.authorVilela, Maysa Ramos
dc.contributor.authorBraga, Ellen Fernanda das Neves
dc.contributor.authorBrito, Adriana Soares Xavier de
dc.contributor.authorCamargo, Gabriel Cordeiro
dc.contributor.authorCamillis, Luiz Felipe
dc.contributor.authorRey, Helena Cramer Veiga
dc.contributor.authorWeksler, Clara
dc.date.accessioned2025-01-29T13:44:40Z
dc.date.available2025-01-29T13:44:40Z
dc.date.issued2024
dc.description.abstractIntroduction: Cardiac amyloidosis (CA) poses significant diagnostic and therapeutic challenges. In this case report, we detail a patient with CA due to a rare transthyretin (CA-TTR) mutation, manifesting with negative myocardial scintigraphy and requiring genetic testing for diagnosis. The patient also had severe aortic stenosis (AS), necessitating discussion with a heart team to determine the optimal treatment strategy. Case report: A 70-year-old male with a family history of sudden death was previously diagnosed with third-degree atrioventricular block and treated with a pacemaker. He presented with worsening exertional dyspnoea, and examination revealed a third heart sound, a systolic murmur indicative of AS and bilateral muscular atrophy in the thenar region. Transthoracic echocardiography indicated severe AS and moderate left ventricular dysfunc tion, with images suggesting infiltrative disease. Pyrophosphate scintigraphy revealed no abnormal cardiac tracer uptake. Cardiac magnetic resonance imaging (MRI) revealed extensive, heterogeneous, subendocardial late gadolinium enhancement in both the atria and ventricles, which was consistent with CA. Genetic testing identified the Phe84Leu mutation in the TTR gene. Following heart team discussions, the patient underwent successful transcatheter aortic valve implantation (TAVI) and remained asymptomatic in follow-up, being monitored at an outpatient clinic specializing in CA and using tafamidis. Discussion: CA-TTR can be an autosomal dominant disease with variable penetrance involving abnormal amyloid protein deposition in tissues and can often be diagnosed noninvasively via myocardial scintigraphy. However, some TTR mutations do not affect scintigraphy results, necessitating genetic testing when clinical suspicion is high, potentially avoiding endomyocardial biopsy. Moreover, AS occurs in up to 16 % of TTR amyloidosis pa tients, with the conditions mutually exacerbating each other. Recent consensus suggests that TAVI reduces mortality in patients with severe AS and amyloidosis. Conclusions: Various diagnostic algorithms emphasize the use of myocardial scintigraphy for suspected CA-TTR. Genetic testing is crucial when scintigraphy results are negative, but clinical suspicion remains high, potentially circumventing invasive procedures. Compared with medical management alone, TAVI has been shown to improve quality of life and survival in patients with concurrent severe AS and CA.
dc.identifier.citationMagalhães GCM, Bezerra LC, Binensztok B, Vilela MR, das Neves Braga EF, de Brito ASX, Camargo GC, Camillis LF, Rey HCV, Weksler C. Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report. Am Heart J Plus. 2024 Aug 21;45:100444. doi: 10.1016/j.ahjo.2024.100444.
dc.identifier.otherDOI: 10.1016/j.ahjo.2024.100444
dc.identifier.urihttps://dspace.inc.saude.gov.br/handle/123456789/768
dc.language.isoen
dc.publisherAmerican Heart Journal Plus
dc.subjectAortic stenosisen
dc.subjectCardiac amyloidosisen
dc.subjectATTR mutationen
dc.subjectCase reporten
dc.subjectTAVIen
dc.subjectGenetic test.en
dc.titleChallenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report
dc.typeArticle
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