Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report
Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report
Data
2024
Autores
Magalhães, Gabriela Carvalho Monnerat
Bezerra, Luciana Coutinho
Binensztok, Beny
Vilela, Maysa Ramos
Braga, Ellen Fernanda das Neves
Brito, Adriana Soares Xavier de
Camargo, Gabriel Cordeiro
Camillis, Luiz Felipe
Rey, Helena Cramer Veiga
Weksler, Clara
Journal Title
Journal ISSN
Volume Title
Publisher
American Heart Journal Plus
Resumo
Introduction: 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.
Description
Palavras-chave
Aortic stenosis, Cardiac amyloidosis, ATTR mutation, Case report, TAVI, Genetic test.
Citação
Magalhães 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.