Systemic wild-type transthyretin amyloidosis combined with valvular and ischemic cardiomyopathy

    Authors

    Abstract

    Aim: To show a case of systemic wild-type transthyretin amyloidosis (wtATTR) combined with valvular and ischemic cardiomyopathy. Case report: 78-year-old man presented with worsening of congestive chronic heart failure. Medical history includes arterial hypertension, stage 3b chronic kidney disease, coronary artery disease, hypothyroidism, syndrome Raynoud (**Figure 1**) and implantation of ICD in secondary prevention. The electrocardiogram showed atrial fibrillation and right bundle branch block. Transthoracic echocardiography (**Figure 2****,****Figure 3**) showed reduced left ventricle ejection fraction, biventricular wall thickening (1), global and segmental hypokinesia of inferior wall and basal inferoseptum, decreased global longitudinal systolic function; moderate calcified aortic stenosis (2); biatrial enlargement, moderate mitral and severe secondary tricuspid regurgitation. Based on the absence of monoclonal protein, cardiac scintigraphy was performed with injection of technetium-based compound which confirmed the diagnosis of amyloid transthyretin cardiomyopathy (3) (**Figure 4 A and B**). Furthermore, recoronarography excluded progression of coronary artery disease. Peripheral polyneuropathy consistent with amyloidosis was also diagnosed. Guideline based heart failure management resulted in rapid recovery and after discharge patient was ambulatory (NYHA III). He was adherent to therapy without side-effects typical for cardiac amyloidosis (hypotension, etc.) probably due to combined aetiology of cardiomyopathy. Tafamidis (4) is the only medication approved for the treatment of wtATTR cardiomyopathy, slowing the dissociation of transthyretin and further progression of the disease, reducing all-cause mortality and cardiovascular-related hospitalizations compared to placebo. Unfortunately it is not indicated in advanced heart failure present in our patient. FIGURE 1. Raynaud’s syndrome; pallor 5th finger of the left hand and cyanotic hands. FIGURE 2. Parasternal long axis view: small left ventricle cavity, left atrial enlargement, biventricular wall thickening. FIGURE 3. Speckle tracking echocardiography: severely reduced global longitudinal strain (-9.0%) with an “apical sparing”/”cherry on the top” pattern. FIGURE 4. Cardiac scintigraphy and SPECT/CT; A. Static scintygraphy images showing heart/contralateral tracer uptake ratio >1.5. B. SPECT/CT confirmation that tracer is accumulating in myocardium.

    Keywords

    cardiomyopathy, transthyretin amyloidosis, aortic stenosis, coronary artery disease, heart failure

    DOI

    https://doi.org/10.15836/ccar2023.154

    Literature

    1. Brownrigg J, Lorenzini M, Lumley M, Elliott P. Diagnostic performance of imaging investigations in detecting and differentiating cardiac amyloidosis: a systematic review and meta-analysis. ESC Heart Fail. 2019 October;6(5):1041–51. https://doi.org/10.1002/ehf2.12511
    2. Longhi S, Lorenzini M, Gagliardi C, Milandri A, Marzocchi A, Marrozzini C, et al. Coexistence of Degenerative Aortic Stenosis and Wild-Type Transthyretin-Related Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2016 March;9(3):325–7. https://doi.org/10.1016/j.jcmg.2015.04.012
    3. Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019 June 11;73(22):2872–91. https://doi.org/10.1016/j.jacc.2019.04.003
    4. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018 September 13;379(11):1007–16. https://doi.org/10.1056/NEJMoa1805689
    Cardiologia Croatica
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    Systemic wild-type transthyretin amyloidosis combined with valvular and ischemic cardiomyopathy

    Extended Abstract
    Issue5-6
    Published
    Pages154-156
    PDF via DOIhttps://doi.org/10.15836/ccar2023.154
    cardiomyopathy
    transthyretin amyloidosis
    aortic stenosis
    coronary artery disease
    heart failure

    Authors

    Tereza Knaflec*ORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia
    Siniša RoginićORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia
    Ivan JakšićORCIDUniversity Hospital Centre Sestre Milosrdnice, Zagreb, Croatia
    Martina RoginićORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia
    Marija ČajkoORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia
    Nikolina Mijač MikačićORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia
    Domagoj FutivićORCIDGeneral Hospital Zabok and Hospital of Croatian Veterans, Zabok, Croatia

    *Correspondence email: tknaflec@gmail.com

    Abstract

    Aim: To show a case of systemic wild-type transthyretin amyloidosis (wtATTR) combined with valvular and ischemic cardiomyopathy. Case report: 78-year-old man presented with worsening of congestive chronic heart failure. Medical history includes arterial hypertension, stage 3b chronic kidney disease, coronary artery disease, hypothyroidism, syndrome Raynoud (**Figure 1**) and implantation of ICD in secondary prevention. The electrocardiogram showed atrial fibrillation and right bundle branch block. Transthoracic echocardiography (**Figure 2****,****Figure 3**) showed reduced left ventricle ejection fraction, biventricular wall thickening (1), global and segmental hypokinesia of inferior wall and basal inferoseptum, decreased global longitudinal systolic function; moderate calcified aortic stenosis (2); biatrial enlargement, moderate mitral and severe secondary tricuspid regurgitation. Based on the absence of monoclonal protein, cardiac scintigraphy was performed with injection of technetium-based compound which confirmed the diagnosis of amyloid transthyretin cardiomyopathy (3) (**Figure 4 A and B**). Furthermore, recoronarography excluded progression of coronary artery disease. Peripheral polyneuropathy consistent with amyloidosis was also diagnosed. Guideline based heart failure management resulted in rapid recovery and after discharge patient was ambulatory (NYHA III). He was adherent to therapy without side-effects typical for cardiac amyloidosis (hypotension, etc.) probably due to combined aetiology of cardiomyopathy. Tafamidis (4) is the only medication approved for the treatment of wtATTR cardiomyopathy, slowing the dissociation of transthyretin and further progression of the disease, reducing all-cause mortality and cardiovascular-related hospitalizations compared to placebo. Unfortunately it is not indicated in advanced heart failure present in our patient. FIGURE 1. Raynaud’s syndrome; pallor 5th finger of the left hand and cyanotic hands. FIGURE 2. Parasternal long axis view: small left ventricle cavity, left atrial enlargement, biventricular wall thickening. FIGURE 3. Speckle tracking echocardiography: severely reduced global longitudinal strain (-9.0%) with an “apical sparing”/”cherry on the top” pattern. FIGURE 4. Cardiac scintigraphy and SPECT/CT; A. Static scintygraphy images showing heart/contralateral tracer uptake ratio >1.5. B. SPECT/CT confirmation that tracer is accumulating in myocardium.

    Literature

    1. 1.
      Brownrigg J, Lorenzini M, Lumley M, Elliott P. Diagnostic performance of imaging investigations in detecting and differentiating cardiac amyloidosis: a systematic review and meta-analysis. ESC Heart Fail. 2019 October;6(5):1041–51.DOI
    2. 2.
      Longhi S, Lorenzini M, Gagliardi C, Milandri A, Marzocchi A, Marrozzini C, et al. Coexistence of Degenerative Aortic Stenosis and Wild-Type Transthyretin-Related Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2016 March;9(3):325–7.DOI
    3. 3.
      Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019 June 11;73(22):2872–91.DOI
    4. 4.
      Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018 September 13;379(11):1007–16.DOI