Unusual case of ATTR amyloidosis with cardiac manifestation and situs inversus totalis

Fritschka, Max; Schlegl, Michael; Borges, Adrian C.; Werner, Mathias; Gebker, Rolf; Pieske, Burkert; Kelle, Sebastian

doi:10.1007/s00392-016-1067-9

Cited by 2 publications

(3 citation statements)

References 10 publications

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“…Diagnosis of systemic amyloidosis was defined by histological documentation of Congo Red staining and apple-green birefringence under cross-polarized light in at least one involved organ. Cardiac amyloidosis was diagnosed either by means of endomyocardial biopsy (EMB), cardiac imaging [echocardiography, cardiac magnetic resonance (CMR) or 99mTC-3,3-diphosphono-1,2-propanodicarboxyl acid (99mTC-DPD) scintigraphy] and/or elevation of biomarkers (N-terminal pro brain natriuretic peptide, troponin T) in patients with a positive result of non-cardiac biopsy [2,[18][19][20].…”

Section: Diagnostic Definitionmentioning

confidence: 99%

When and how do patients with cardiac amyloidosis die?

et al. 2019

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Background Cardiac amyloidosis (CA) is an underappreciated cause of morbidity and mortality. Light-chain (AL) and transthyretin (ATTR) amyloidosis have different disease trajectories. No data are available on subtype-specific modes of death (MOD) in patients with CA. Methods and results We retrospectively investigated 66 with AL and 48 with wild-type ATTR amyloidosis (ATTRwt) from 2000 to 2018. ATTRwt differed from AL by age (74.6 ± 5.4 years vs. 63 ± 10.8 years), posterior wall thickness (16.8 ± 3.3 mm vs. 14.3 ± 2.2 mm), left ventricular mass index (180.7 ± 63.2 g/m 2 vs. 133.5 ± 42.2 g/m 2), and the proportions of male gender (91.7% vs. 59.1%), atrial enlargement (92% vs. 68.2%) and atrial fibrillation (50% vs. 12.1%). In AL NYHA Functional Class and proteinuria (72.7% vs. 39.6%) were greater; mean arterial pressure (84.4 ± 13.5 mmHg vs. 90.0 ± 11.3 mmHg) was lower. Unadjusted 5-year mortality rate was 65% in AL-CA vs. 44% in the ATTRwt group. Individuals with AL-CA were 2.28 times ([95%CI 1.27-4.10]; p = 0.006) more likely to die than were individuals with ATTRwt-CA. Information on MOD was available in 56 (94.9%) of 59 deceased patients. MOD was cardiovascular in 40 (66.8%) and non-cardiovascular in 16 (27.1%) patients. Cardiovascular [28 (68.3%) vs. 13 (80%)] death events were distributed equally between AL and ATTRwt (p = 0.51). Conclusion Our data indicate no differences in MOD between patients with AL and ATTRwt cardiac amyloidosis despite significant differences in clinical presentation and disease progression. Cardiovascular events account for more than twothirds of fatal casualties in both groups.

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Section: Diagnostic Definitionmentioning

confidence: 99%

When and how do patients with cardiac amyloidosis die?

et al. 2019

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“…4,5 Findings of other diagnostic studies, including no obvious change in LV diastolic function, 6 also supported the efficacy of tafamidis to delay the progression of amyloid cardiomyopathy. Native T1 and ECV showed no significant worsening after 12 months of tafamidis treatment, suggesting that tafamidis may have suppressed cardiac progression.…”

Section: Discussionmentioning

confidence: 70%

“…We also found no significant progression of LV mass at 12 months (2% increase by echocardiography and 3% decrease by CMR imaging), in contrast to the rapid progression reported in TTR amyloid cardiomyopathy (LV mass increase in 12 months: 9% by CMR imaging and 22% by echocardiography) and changes in LV morphological features associated with a poor prognosis. 4,5 Findings of other diagnostic studies, including no obvious change in LV diastolic function, 6 also supported the efficacy of tafamidis to delay the progression of amyloid cardiomyopathy. To the best of our knowledge, our case is the first published report of a serial evaluation of tafamidis treatment using native T1 and ECV in TTR amyloid cardiomyopathy.…”

Section: Discussionmentioning

confidence: 70%

Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy

et al. 2018

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Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations. However, its efficacy in TTR amyloid cardiomyopathy is not fully elucidated. Herein, we report a 73‐year‐old Japanese man with a diagnosis of TTR amyloid cardiomyopathy with Val30Met mutation treated with tafamidis. To evaluate treatment response, cardiac magnetic resonance imaging was performed before and after 12 months of tafamidis treatment. Native T1, extracellular volume, and left ventricular mass showed no obvious worsening, and findings of other diagnostic studies also supported the efficacy of tafamidis to delay the progression of amyloid cardiomyopathy. Our case suggests that serial native T1 and extracellular volume may be novel non‐invasive imaging methods to monitor the treatment response to TTR stabilizers in cardiac amyloidosis and also that tafamidis may be effective in suppressing cardiac progression in TTR amyloid cardiomyopathy with Val30Met mutation.

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Unusual case of ATTR amyloidosis with cardiac manifestation and situs inversus totalis

Cited by 2 publications

References 10 publications

When and how do patients with cardiac amyloidosis die?

When and how do patients with cardiac amyloidosis die?

Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy

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