Screening approaches to cardiac amyloidosis in different clinical settings: Current practice and future perspectives

Cardiac amyloidosis is a serious and progressive infiltrative disease caused by the deposition of amyloid fibrils in the heart. In the last years, a significant increase in the diagnosis rate has been observed owing to a greater awareness of its broad clinical presentation. Cardiac amyloidosis is frequently associated to specific clinical and instrumental features, so called “red flags”, and it appears to occur more commonly in particular clinical settings such as multidistrict orthopedic conditions, aortic valve stenosis, heart failure with preserved or mildly reduced ejection fraction, arrhythmias, plasma cell disorders. Multimodality approach and new developed techniques such PET fluorine tracers or artificial intelligence may contribute to strike up extensive screening programs for an early recognition of the disease.

[1]  J. Bogaert,et al.  Role of cardiovascular magnetic resonance in the clinical evaluation of left ventricular hypertrophy: a 360° panorama , 2022, The International Journal of Cardiovascular Imaging.

[2]  N. Kelekis,et al.  Diagnostic and Prognostic Value of non-LGE Cardiac Magnetic Resonance Parameters in Cardiac Amyloidosis. , 2022, Current problems in cardiology.

[3]  R. Santi,et al.  Transthyretin Cardiac Amyloidosis: A Cardio-Orthopedic Disease , 2022, Biomedicines.

[4]  M. Maurer,et al.  Screening for Cardiac Amyloidosis 5 to 15 Years After Surgery for Bilateral Carpal Tunnel Syndrome. , 2022, Journal of the American College of Cardiology.

[5]  D. Iakovidis,et al.  Artificial Intelligence in Cardiology—A Narrative Review of Current Status , 2022, Journal of clinical medicine.

[6]  Sawsan S. Al-Haroon,et al.  Amyloid Deposits in the Ligamentum Flavum Related to Lumbar Spinal Canal Stenosis and Lumbar Disc Degeneration , 2022, Cureus.

[7]  L. Køber,et al.  Carpal Tunnel Syndrome in Patients Who Underwent Pacemaker Implantation and Relation to Amyloidosis, Heart Failure, and Mortality. , 2022, The American journal of cardiology.

[8]  C. Autore,et al.  Incidence and risk factors for pacemaker implantation in light‐chain and transthyretin cardiac amyloidosis , 2022, European journal of heart failure.

[9]  M. Emdin,et al.  Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta‐analysis of screening studies , 2022, European journal of heart failure.

[10]  C. Autore,et al.  Prevalence and prognostic role of nonsustained ventricular tachycardia in cardiac amyloidosis , 2022, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[11]  G. Parati,et al.  Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC‐TIVE study, an Italian nationwide survey , 2022, European journal of heart failure.

[12]  K. Ananthasubramaniam,et al.  Epidemiology and clinical manifestations of cardiac amyloidosis , 2021, Heart Failure Reviews.

[13]  O. Wazni,et al.  Electrophysiological Manifestations of Cardiac Amyloidosis , 2021, JACC. CardioOncology.

[14]  C. Rapezzi,et al.  Transthyretin amyloidosis in aortic stenosis: clinical and therapeutic implications , 2021, European heart journal supplements : journal of the European Society of Cardiology.

[15]  Dennis H. Murphree,et al.  Artificial Intelligence-Enhanced Electrocardiogram for the Early Detection of Cardiac Amyloidosis. , 2021, Mayo Clinic proceedings.

[16]  U. Eriksson,et al.  Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases , 2021, European journal of heart failure.

[17]  A. Mayr,et al.  Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement , 2020, Wiener klinische Wochenschrift.

[18]  P. Lindqvist,et al.  Prevalence of wild type transtyrethin cardiac amyloidosis in a heart failure clinic , 2020, ESC heart failure.

[19]  C. Rapezzi,et al.  Aortic stenosis, transcatheter aortic valve replacement and transthyretin cardiac amyloidosis: are we progressively unraveling the tangle? , 2020, European journal of heart failure.

[20]  J. Moon,et al.  Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis , 2020, Journal of the American College of Cardiology.

[21]  E. Velazquez,et al.  Heart Failure With Preserved Ejection Fraction: Time for a Reset. , 2020, JAMA.

[22]  E. Klotz,et al.  Identifying Cardiac Amyloid in Aortic Stenosis , 2020, JACC. Cardiovascular imaging.

[23]  M. Emdin,et al.  [18F]-Florbetaben PET/CT for Differential Diagnosis Among Cardiac Immunoglobulin Light Chain, Transthyretin Amyloidosis, and Mimicking Conditions. , 2020, JACC. Cardiovascular imaging.

[24]  W. Saliba,et al.  Prevalence, Incidence, and Impact on Mortality of Conduction System Disease in Transthyretin Cardiac Amyloidosis. , 2020, The American journal of cardiology.

[25]  B. Goodwin,et al.  Estimation of prevalence of transthyretin (ATTR) cardiac amyloidosis in an Australian subpopulation using bone scans with echocardiography and clinical correlation , 2020, Journal of Nuclear Cardiology.

[26]  G. Niccoli,et al.  Heart failure with preserved ejection fraction diagnosis and treatment: An updated review of the evidence. , 2020, Progress in cardiovascular diseases.

[27]  D. Darden,et al.  Management of Arrhythmias in Cardiac Amyloidosis. , 2020, JACC. Clinical electrophysiology.

[28]  A. Masri,et al.  Unveiling outcomes in coexisting severe aortic stenosis and transthyretin cardiac amyloidosis , 2020, European journal of heart failure.

[29]  C. Di Mario,et al.  Baseline ECG Features and Arrhythmic Profile in Transthyretin Versus Light Chain Cardiac Amyloidosis. , 2020, Circulation. Heart failure.

[30]  A. Farioli,et al.  Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies , 2020, European journal of heart failure.

[31]  G. Parati,et al.  Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy. , 2020, International journal of cardiology.

[32]  G. Pontone,et al.  Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis. , 2019, JACC. Cardiovascular imaging.

[33]  P. Hawkins,et al.  Cardiac biomarkers are prognostic in systemic light chain amyloidosis with no cardiac involvement by standard criteria , 2019, Haematologica.

[34]  L. Køber,et al.  Association of Carpal Tunnel Syndrome With Amyloidosis, Heart Failure, and Adverse Cardiovascular Outcomes. , 2019, Journal of the American College of Cardiology.

[35]  R. Nkoulou,et al.  Amyloid PET imaging in cardiac amyloidosis: a pilot study using 18F-flutemetamol positron emission tomography , 2019, Annals of Nuclear Medicine.

[36]  P. García-Pavía,et al.  Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population. , 2018, International journal of cardiology.

[37]  D. Phelan,et al.  Tenosynovial and Cardiac Amyloidosis in Patients Undergoing Carpal Tunnel Release. , 2018, Journal of the American College of Cardiology.

[38]  Philip A. Gable,et al.  On the role of asymmetric frontal cortical activity in approach and withdrawal motivation: An updated review of the evidence. , 2018, Psychophysiology.

[39]  M. Maurer,et al.  Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? , 2017, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[40]  R. Falk,et al.  Association Between Ruptured Distal Biceps Tendon and Wild-Type Transthyretin Cardiac Amyloidosis , 2017, JAMA.

[41]  P. Elliott,et al.  Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis , 2017, Circulation.

[42]  D. Chemla,et al.  Cardiac Dysautonomia Predicts Long-Term Survival in Hereditary Transthyretin Amyloidosis After Liver Transplantation. , 2016, JACC. Cardiovascular imaging.

[43]  S. K. White,et al.  Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis: Prevalence and Prognosis in Patients Undergoing Surgical Aortic Valve Replacement. , 2016, Circulation. Cardiovascular imaging.

[44]  William Y S Wang,et al.  Cardiac Amyloid Imaging with 18F-Florbetaben PET: A Pilot Study , 2016, The Journal of Nuclear Medicine.

[45]  H. Rousseau,et al.  Pilot study for left ventricular imaging phenotype of patients over 65 years old with heart failure and preserved ejection fraction: the high prevalence of amyloid cardiomyopathy , 2016, The International Journal of Cardiovascular Imaging.

[46]  C. Rapezzi,et al.  Coexistence of Degenerative Aortic Stenosis and Wild-Type Transthyretin-Related Cardiac Amyloidosis. , 2016, JACC. Cardiovascular imaging.

[47]  R. Falk,et al.  Electrophysiologic assessment of conduction abnormalities and atrial arrhythmias associated with amyloid cardiomyopathy. , 2016, Heart rhythm.

[48]  A. Dispenzieri,et al.  Immunoglobulin Light-Chain Amyloidosis: From Basics to New Developments in Diagnosis, Prognosis and Therapy , 2016, Acta Haematologica.

[49]  E. González-López,et al.  Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. , 2015, European heart journal.

[50]  F. Salvi,et al.  Cardiac amyloidosis: the great pretender , 2015, Heart Failure Reviews.

[51]  J. Cavenagh,et al.  Guidelines on the diagnosis and investigation of AL amyloidosis , 2015, British journal of haematology.

[52]  A. Dispenzieri,et al.  Natural history and therapy of AL cardiac amyloidosis , 2015, Heart Failure Reviews.

[53]  F. Salvi,et al.  Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. , 2014, JACC. Cardiovascular imaging.

[54]  W. Edwards,et al.  Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. , 2014, JACC. Heart failure.

[55]  James D. Thomas,et al.  Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis , 2012, Heart.

[56]  H. Jono,et al.  Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. , 2011, Human pathology.

[57]  J. Kelly,et al.  Mechanisms of transthyretin cardiomyocyte toxicity inhibition by resveratrol analogs. , 2011, Biochemical and biophysical research communications.

[58]  F. Salvi,et al.  Systemic Cardiac Amyloidoses: Disease Profiles and Clinical Courses of the 3 Main Types , 2009, Circulation.

[59]  C. Baird,et al.  The pilot study. , 2000, Orthopedic nursing.

[60]  J. Potokar The Great Pretender , 1992, West of England medical journal.

[61]  G. Hutchins,et al.  The conduction system in cardiac amyloidosis. Clinical and pathologic features of 23 patients. , 1977, The American journal of medicine.