Diagnosis Of Cardiac Involvement Research Articles

P393 MULTIMODALITY IMAGING IN ACROMEGALIC CARDIOMIOPATHY: A CASE REPORT

Abstract Background Acromegaly is a disease caused by an excessive production of GH. Cardiac involvement, called acromegalic cardiomyopathy, is present in 90% of cases. Clinical Presentation A 56–year–old woman with acromegaly from pituitary adenoma, hypertension and obesity undewent angioCT showing thoracic aortic aneurysm (Figure 1). She was referred to a cardiological visit to evaluate the possible presence of acromegalic heart disease. The EKG showed signs of left ventricular hypertrophy (LVH) and so transthoracic echocardiogram (TTE) was prescribed: it showed slightly dilated, very hypertrophic left ventricle with ejection fraction of about 50% and signs of diastolic dysfunction. The exam also highlighted moderate to severe aortic valve regurgitation (Figure 2). In order to better characterize the cardiomyopathy a Cardiac magnetic resonance with contrast media (CMR) was performed: cine images confirmed severe left ventricular hypertrophy associated with mild dilatation, global biventricular hypertrophy and hypokinesia. After contrast media administration, a diffuse mild–enhancement pattern was found, a possible expression of diffuse interstitial fibrosis (Figure 3). In consideration of the dilatation of the ascending aorta and the contextual valve insufficiency, the patient was referred for cardiac surgery outpatient visit. Discussion The most frequent manifestations of acromegalic cardiomyopathy are bi–ventricular hypertrophy, the presence of diastolic and systolic dysfunction and the presence of valve regurgitation. Concentric hypertrophy is due to the increase in cardiomyocytes secondary to the GH stimulus and it is often bi–ventricular. Another characteristic finding is diffuse interstitial fibrosis with consequent systo–diastolic dysfunction and heart rhythm abnormalities. Aortic valve anomalies are linked to matrix abnormalities and myxoid degeneration. Conclusions this case can be considered an example of acromegalic heart disease. Multimodality imaging plays a key role in the early diagnosis of cardiac involvement and therefore it allows an early start of therapeutic strategy. Additionally, it is useful for the risk stratification of acromegalic patient.

Contribution of Cardiac Magnetic Resonance to Hematochromatosis

Hemochromatosis is a disease characterized by the progressive accumulation of iron in the body. It can be primitive or secondary. It affects several organs including the heart, liver, pancreas and pituitary gland. The preponderant cardiac involvement is myocardial, related to the iron myocyte overload, causing a decrease in left ventricular distensibility. Echocardiography is the first-line examination, showing an abnormality of left ventricular filling and, later, cavitary dilatation with left ventricular systolic dysfunction. Cardiac MRI is the gold standard for measuring excess iron in the myocardium in the context of hemochromatosis using the T2 * technique. It plays a major role for the diagnosis of cardiac involvement and for monitoring the chelation treatment. In this study, we report three cases of patients with hemochromatosis whose cardiac localization was confirmed or eliminated using cardiac MRI. Cardiovascular magnetic resonance has been used to assess myocardial iron deposition using the relaxation parameters T2*. Heart T2* falls with increasing iron loading. One patient had a myocardial T2* below 20 ms indicating myocardial siderosis. The others patients had a T2 *> 20 ms. The late enhancement was absent in all our patients. This study aims at detecting the myocardial iron overload using cardiac MRI. The treatment is based on bleeding in primary hemochromatosis while in secondary hemochromatosis, it is based on excretion of iron by chemical chelation.

Hereditary Hemochromatosis: A Cardiac Perspective.

Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH along with the significance of early diagnosis and management in preventing complications. In this review article, we have reviewed multiple pieces of literature and gathered available information regarding the subject. We compiled the data to investigate the importance of early detection of symptoms, regular monitoring, and prompt management with strict adherence to reverse or prevent complications. This article has reviewed different aspects of cardiac hemochromatosis, such as pathogenesis, clinical presentation, diagnosis, and management. Recognition of early symptoms, diagnosis of cardiac involvement with various modalities, and implementation of early treatment are essentially the foundation of better outcomes in HH.

Accuracy and reliability of focused echocardiography in patients with Chagas disease from endemic areas: SaMi-Trop cohort study.

Chagas disease remains a major cause of cardiovascular death in endemic areas. Focused echocardiography (FoCUS) is a point-of-care means of assessing cardiac function which can be useful for the diagnosis of cardiac involvement. This study aims evaluating the characteristics of validity and reliability of FoCUS applied on Chagas disease patients. Patients with Chagas disease coming from an endemic area were selected from a large cohort (SaMi-Trop). A simplified echocardiogram with only three images was extracted from the conventional echocardiogram performed in this cohort. The images were evaluated by an observer who was blinded to the clinical and echocardiographic data, to determine the accuracy and reliability of FoCUS for cardiac assessment. The analysis constituted of 5 prespecified variables, dichotomized in absence or presence: left ventricular (LV) size and systolic function, right ventricular (RV) size and systolic function, and LV aneurysm. We included 725 patients with a mean age of 63.4 ± 12.3 years, 483 (67%) female. Abnormal electrocardiogram was observed in 81.5% of the patients. Left and right ventricular dysfunctions were found in 103 (14%) and 49 (7%) of the patients, respectively. Sensitivity, specificity, positive predictive value and negative predictive value were 84%, 94%, 70% and 97% for LV enlargement and 81%, 93%, 68% and 97% for LV systolic dysfunction, respectively, and 46%, 99%, 60% and 98% for RV dilatation, and 37%, 100%, 100% and 96% for RV dysfunction, respectively. Inter and intraobserver agreement were 61% and 87% for LV enlargement and 63% and 92% for LV dysfunction, respectively, and 50% and 49% for RV size and 46% and 79% for RV dysfunction, respectively. LV apical aneurysm was found in 45 patients (6.2%) with the lowest sensitivity of FoCUS study (11%; 95% CI 2-28%). FoCUS showed satisfactory values of validity and reliability for assessment of cardiac chambers in patients with Chagas disease, except for apical aneurysm. This tool can identify heart disease with potential impact on patient management in the limited-resource setting.

Diagnosis of Cardiac Involvement in Amyloid A Amyloidosis by Cardiovascular Magnetic Resonance Imaging.

Background: Diagnosis of cardiac involvement in amyloid A (AA) amyloidosis is challenging since AA amyloidosis is a rare disease and cardiac involvement even less frequent. The diagnostic yield of currently available non-invasive imaging methods is not well-studied and rather limited, and invasive endomyocardial biopsy (EMB) is rarely performed due to the potential risk of this procedure. Cardiovascular magnetic resonance (CMR)-based myocardial tissue characterization by late-gadolinium-enhancement (LGE) imaging and novel-mapping approaches may increase the diagnostic yield in AA amyloidosis.Methods: Two patients with AA amyloidosis in whom cardiac involvement was suspected based on CMR findings and subsequently proven by biopsy work-up are presented. CMR studies were performed on a 1.5-T system and comprised a cine steady-state free precession pulse sequence for ventricular function and a late-gadolinium-enhancement (LGE) sequence for detection of myocardial pathology. Moreover, a modified Look-Locker inversion recovery (MOLLI) T1-mapping sequence was applied in basal, mid and apical short-axes prior to contrast agent administration and ~20 min thereafter to determine native T1 and ECV values.Results: Both patients showed slightly dilated left ventricles (LV) with mild to moderate LV hypertrophy and preserved systolic function. Only a very subtle pattern of LGE was observed in both patients with AA amyloidosis. However, markedly elevated native T1 (max. 1,108 and 1,112 ms, respectively) and extracellular volume fraction (ECV) values (max. 39 and 48%, respectively) were measured in the myocardium suggesting the presence of cardiac involvement - with subsequent EMB-based proof of AA amyloidosis.Conclusion: We recommend a multi-parametric CMR approach in patients with AA amyloidosis comprising both LGE-based contrast-imaging and T1-mapping-based ECV measurement of the myocardium for non-invasive work-up of suspected cardiac involvement. The respective CMR findings may be used as gatekeeper for additional invasive procedures (such as EMB) and as a non-invasive monitoring tool regarding assessment and modification of ongoing treatments.

Randall-type monoclonal immunoglobulin deposition disease: description of cardiac involvement

Abstract Background Randall-type monoclonal immunoglobulin disease (MIDD) is a rare complication of a monoclonal plasma cell clone. MIDD differs from AL amyloidosis by the presence of Congo red negative non-organized immunoglobulin (Ig) deposits, most commonly light chains (LCDD) along basement membranes and sometimes heavy chains (HCDD) or light and heavy chains (LHCDD). As AL amyloidosis MIDD is a multi-systemic disease, and affects the heart. To date no study has focused on the clinical characteristics of heart disease in MIDD. Purpose The aim of this study was to describe the cardiologic features of patients with biopsy-proven MIDD and suspected cardiac involvement. Methods This multi-center, nation-wide retrospective study extracted from the database of the French reference center for AL amyloidosis and other Ig deposition diseases between 2012 to 2019. Diagnosis of cardiac involvement was assessed according to the International Society of Amyloidosis criteria for amyloid heart disease, as follows: left ventricular hypertrophy with a diastolic septum thickness ≥12mm, NTproBNP serum level ≥332 ng / L, histological evidence on cardiac or extra cardiac biopsy of typical linear non-organized Ig deposits along basement membranes. Severity was defined according to the Mayo Clinic classification for AL amyloidosis. Results Among 20 patients included (mean age was 70±9 years), 11 (55%) were males; 13 (65%) were LCDD, 3 (15%) HCDD and 4 (20%) LHCDD. At diagnosis, 19 (95%) had a history of hypertension, 3 (16%) had atrial fibrillation, 3 (15%) had NYHA grade 3 or 4 dyspnea. Mayo Clinic score was stage 3a in 4 patients (20%) and stage 3b in 6 patients (30%). The most frequent ECG changes were microvoltage (40%) and pseudo Q wave (40%); 64% of patients had altered sinus variability on 24-hour Holter monitoring, one patient had a high-grade conduction disorder and another had ventricular tachycardia. On echocardiography, all showed diastolic dysfunction; mean diastolic septum thickness was 13.5mm; only one patient had LVEF impairment but 38% had global longitudinal strain impairment. 10 patients had cardiac MRI, none showed contrast enhancement after gadolinium injection. After median follow-up of 28 months, 4 patients were hospitalized for heart failure, including 2 with cardiogenic shock. Seven (35%) patients died within a median of 10 months from diagnosis. Among patients with Mayo clinic stage 3 (a or b), 67% died within a median of 8 months from the diagnosis. Conclusions To our knowledge, we present the first case series dedicated to the description of cardiac parameters in MIDD patients with cardiac involvement. Except for MRI appearance of cardiac infiltration, these patients showed features close to that of AL amyloid heart disease. Overall prognosis appears seemingly poor in MIDD patients with Mayo Clinic stage 3 cardiac disease. Funding Acknowledgement Type of funding source: None

Endomyocardial biopsies in the diagnosis of myocardial involvement in systemic lupus erythematosus.

Endomyocardial biopsy (EMB) is considered the gold standard for diagnosing myocardial involvement in most inflammatory conditions, including systemic lupus erythematosus (SLE). However, EMBs are rarely performed, and most of the myocardial histopathology reports in SLE consist of postmortem data. We therefore sought to describe the histopathologic findings of contemporary EMBs in SLE performed in clinical practice. A retrospective review of histopathology reports from SLE patients who underwent EMB from 1994 to 2017 was performed. A total of 41 SLE patients had cardiac pathology reports. Of these, 11 histopathology reports were EMBs, and the remaining were valvular specimens. A total of 11 SLE EMBs were reviewed. It was found that 45% of the patients had hypertension, 27% had coronary artery disease, 9% had hyperlipidemia, and 36% had end-stage renal disease. None had diabetes or smoked. The mean left ventricular ejection fraction was 37%. On histopathology, 10 had mild interstitial fibrosis, 9 had myocyte hypertrophy, 3 had organized blood clots, and 3 had a mild infiltration of lymphocytes and macrophages without clear evidence of myocarditis. None had vasculitis, endocarditis, ischemia, amyloid deposition, or lamellar or curvilinear inclusions. EMBs are rarely performed in SLE. In this case series, nonspecific interstitial fibrosis and myocyte hypertrophy were the most common findings, suggesting EMBs have limited value in the diagnosis of cardiac involvement in SLE and rather rule out competing conditions. These data support the need for diagnostic methods with high sensitivity and specificity for SLE heart disease.

Acute respiratory distress reveals a mitral endocarditis and complete a case of pneumococcal infection of Austrian syndrome

Introduction: Infectious endocarditis caused by Streptococcus pneumonia remains rare but serious. When it is associated with meningitis and pneumonia, it is called Austrian syndrome. Case Report: The authors describe a case of a 66-year-old female Moroccan patient who presented a congestive heart failure due to mitral valve disease after few days of hospitalization for pneumococcal meningitis associated with pneumonitis. The patient had a favorable course after combination of antibiotic therapy followed by surgical valve replacement. Conclusion: The recognition of this syndrome allows an early diagnosis of cardiac involvement often masked and which worsens the prognosis. Mortality can be lowered by appropriate medico-surgical management.

Cardiac sarcoidosis, a rare disease?

Abstract We present the case of a male patient, 34 years old, non-smoker, presenting repeatedly in the past 2 years in emergency and cardiology departments for episodes of palpitation accompanied by faitness. One of the electrocardiograms recorded in emergency department captures bigeminated ventricular premature heartbeats. A cardiac magnetic resonance imaging (MRI) examination in May 2019 showed increased thickness of left ventricle during systole and contrast enhancement in the middle of cardiac wall at the base of the heart, considered initially as hypertrophic non-obstructive cardiomyopathy. The reinterpretation of MRI suggested that the changes were typical for cardiac sarcoidosis. Investigations performed later showed increased angiotensin-converting enzyme (ACE); thoracic computed tomography (CT) scan showed nodules and micronodules bilateral in upper lobes with moderate mediastinal lymph node enlargement and bronchoalveolar lavage (BAL) showed lymphocytic alveolitis with normal CD4/CD8 ratio, normal lung function with normal diffusing capacity. Even without biopsy, but based on CT scan, BAL and ACE, the patient was diagnosed as sarcoidosis with lung and cardiac involvement and was started on oral corticosteroids (methylprednisolone 32 mg/day). The diagnosis of cardiac involvement as initial presentation of sarcoidosis is difficult, due to limited knowledge about the disease among cardiologists and radiologists. Though, a recurrent arrhythmia, potentially severe, in a young patient in the absence of an alternative cause, should raise the suspicion for sarcoidosis with cardiac involvement, with a potential severe outcome in the absence of treatment.

Rare Cardiac Mass Assessed by Cardiac Magnetic Resonance

Abstract A 43 year old male was referred to our center for assessment of the cardiac involvement in Erdheim-Chester disease (EHD) by cardiac magnetic resonance (CMR). The patient presented with a history of bone involvement as well as retroperitoneal mass, demonstrated to consist fibrosis as well as histiocyte infiltration. The CMR examination included cine (SSFP – steady state free procession), T1 weighted (T1w) and T2 weighted (T2w) sequences, as well as late enhancement images 10 minutes after gadolinium based contrast injection (0.2 mmol/kg). The acquired images showed normal dimensions and function for both right and left cardiac chambers. However, a cardiac mass was revealed in the free wall of the right atrium and the junction with the right ventricle, with clear borders and a diameter of 2.5 cm (Image 1). The tissue was best viewed on axial sequences and was isointense on cine, T1w and T2w images and was mildly enhanced on LGE images. Consequently, the diagnosis of cardiac involvement in EHD was confirmed. The patient was started on specific treatment for EHD and 3-year CMR follow-up showed regression of cardiac involvement. Erdheim-Chester disease is a rare disorder most frequently characterized by non-Langerhans histiocytic multifocal osteosclerotic lesions, with multisystemic granulomatosis and widespread manifestations, as well as highly variable severity(1). ECD affects the cardiovascular system in 75% of patients with infiltration of the pericardium and the right atrioventricular septum being the most common presentation. Typically the mass appears isointense on T1 and T2 weighted images and has low contrast enhancement, as was the case in our patient. In approximately 60% of cases death occurs because of cardiac complications, like pericardial tamponade, myocardial infarction, cardiomyopathy or arrhythmias(2). Patients may sometimes be successfully treated with biologic therapy, interferon alpha or radiotherapy.

4312Left ventricular systolic function in patients with systemic lupus erythematosus and its association with cardiovascular events

Abstract Introduction Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder that may involve the cardiovascular system. Diagnosis of cardiac involvement, particularly at an early stage, represents challenge since symptoms in SLE patients are often atypical and current diagnostic tools are characterized by a low sensitivity to detect myocardial dysfunction. Purpose of this study was to assess left ventricular (LV) systolic function in a large cohort of SLE patients in comparison with a control group of healthy subjects and using standard echocardiographic measures and global longitudinal strain (GLS) by 2D speckle tracking analysis. Furthermore, the association between echocardiographic parameters and the occurrence of cardiovascular events was tested. Methods A total of 102 patients (87% female, 42±15 years) were analysed including echocardiography at the time of their first visit. All patients fulfilled the American College of Rheumatology (ACR 1997) and The Systemic Lupus Erythematosus International Collaborating Clinics (SLICC 2012) classification criteria for SLE. During follow-up, cardiovascular events included cerebrovascular accident or transient ischemic attack, pulmonary embolism, coronary artery interventions, hospitalisations for heart failure and development of supraventricular arrhythmias. The control group consisted of 50 age- and gender-matched healthy subjects. Results Prevalence of comorbidities, such as hypertension (8%), hypercholesterolemia (4%) and diabetes mellitus (2%) was relatively low in SLE patients. In comparison with the control group, SLE patients were characterized by worse LV systolic function as measured by LV ejection fraction (51±6% vs 62±6%, p<0.001) and by LV GLS (−15±3% vs −19±2%, p<0.001), as well as worse LV diastolic function (e' septal: SLE 9±2 cm/s vs 10±2 cm/s healthy controls, p=0.020; E/e': SLE 8±3 vs 7±2 healthy controls, p<0.001; TR velocity: SLE 2±0.6 m/s vs 1.6±0.5 m/s healthy controls, p=0.020). During a median follow up of 11 years (Interquartile range: 4–19 years), 43 (42%) patients developed cardiovascular events. Kaplan-Meier curves show that SLE patients with more impaired GLS (based on the median value of −15%) experienced higher cumulative rates of cardiovascular events as compared to patients with GLS ≤−15% (Chi-square 7.197; Log rank p=0.007). On uni- and multivariate Cox-regression models, LV GLS demonstrated significant association with cardiovascular events (HR: 2.229; 95% CI: 1.024–4.853; p=0.043), together with age (HR: 1.043; 95% CI: 1.017–1.069; p=0.014) after correcting for LV mass index and e'; in turn, LV ejection fraction was not significantly associated with cardiovascular events. LV GLS in SLE patients Conclusions In SLE patients, LV systolic function as measured by GLS is significantly impaired and independently associated with cardiovascular events. Incorporation of LV GLS in the early assessment of these patients may significantly improve risk-stratification for cardiovascular events.

ELEVATION OF HEPATOCYTE GROWTH FACTOR CAN INDICATE CARDIAC INVOLVEMENT IN LIGHT CHAIN AND TRANSTHYRETIN AMYLOIDOSIS

Delay in diagnosis of cardiac involvement with amyloidosis (CA) is common predominantly due to nonspecific symptoms and indistinct patterns on non-invasive cardiac testing. An effective serum biomarker may improve early diagnosis of CA. Consecutive patients with light chain (AL) or transthyretin (

Strategies for Managing Arrhythmias in Patients with Cardiac Sarcoidosis.

Sarcoidosis is a systemic granulomatous disease that frequently involves the myocardium. Unfortunately, the sentinel manifestations of cardiac sarcoidosis are often potentially fatal bradyarrhythmia and tachyarrhythmia. Advanced imaging modalities such as cardiac magnetic resonance have allowed for increased diagnosis of cardiac involvement. The current review article explores diagnosis and treatment strategies for arrhythmias in patients with cardiac sarcoidosis.

Rare presentation of sarcoidosis: Multimodal imaging diagnosis of cardiac involvement

Rare presentation of sarcoidosis: Multimodal imaging diagnosis of cardiac involvement

Cardiac AL Amyloidosis – the role of serum Immunoglobulin Free Llight Chain assay (sFLC) in diagnosis and prognostic classification

Systemic immunoglobulin light chain amyloidosis (AL amyloidosis) is a cancer in which the amyloid fibrils are formed from amyloid immunoglobulin free light chain (FLC) κ or λ, produced by a plasma cell clone. The created protein adopts the structure of β-sheets, and depositing in tissues and organs leads to their function impairment. Cardiomyopathies are the main cause of death in patients with amyloidosis. Diagnosis of cardiac involvement is too late owing to nonspecific symptoms and no early characteristic changes observed in imaging studies. The currently valid prognostic classification of AL amyloidosis created by Kumar et al. is based on biochemical parameters evaluating function and the degree of myocardial damage: concentration of troponin (Tn) and N-terminal fragment of B-type natriuretic peptide (NT-proBNP) and the value of dFLC, representing the difference between the concentration of serum FLC (sFLC) involved and not involved in the neoplastic process. There are reports indicating that myocardial dysfunction in AL amyloidosis stems not only from the amyloid deposit in the organ, but it is also the result of the cardiotoxicity amyloid precursor – FLC, circulating in the blood.

Chagas’ Disease: Update on Current Diagnosis

Purpose of Review Chagas’ disease has become an emerging health problem due to increased migration. In the present review, we have summarized the usefulness of non-invasive imaging tools for the diagnosis of cardiac involvement in Chagas’ disease, with emphasis on modern technologies. M-mode, bidimensional (2-D), and three-dimensional (3-D) echocardiographies may allow the evaluation of left ventricular (LV) regional and global contractile function, right ventricle (RV) impairment, evidence of aneurysms and thrombi, and assessment of diastolic function in any stage of the disease.

Assessment of right ventricular systolic and diastolic parameters in pulmonary sarcoidosis

The clinical manifestations of cardiac involvement are seen in about 5% of patients with sarcoidosis; however, the incidence of cardiac involvement is higher in the autopsy series. About 14% of...

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNA Leu(UUR) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted.

An unusual reason for complete atrioventricular block ; Kearn Sayre Syndrome

Kearn sayre syndrome (KSS) is a rare disease with a typical onset before 20 years and charactarized by triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and progressive cardiac conduction abnormalities. The most important prognostic factor in KSS patients is the involvement of heart characterized by progressive degeneration of the conduction system. In patients with KSS, early diagnosis of cardiac involvement is very important because complete atrioventricular (AV) block may develop and it can be cause of sudden cardiac death. Herein we report a patients with KSS who presented with syncope due to complete AV block .

New tools to diagnose and follow FAC patients: biomarkers

In the last decade, the availability of the cardiac biomarkers N terminal pro-natriuretic peptide type-B (NT-proBNP) and troponins has radically changed the approach to diagnosis, staging, and response assessment of cardiac amyloidosis. Despite similar appearance at standard imaging, the main types of amyloidosis involving the heart are characterized by different rates of progression and different outcomes. In general, patients with ATTRm amyloidosis have lower concentrations of cardiac biomarkers and usually a better prognosis than subjects suffering from AL amyloidosis. Nevertheless, the clinical manifestations of ATTRm amyloidosis are heterogeneous. Different amyloidogenic TTR mutations give rise to different cardiac phenotypes, ranging from exclusively neuropathic diseases, through mixed phenotypes, to mutation characterized by severe cardiac dysfunction. For instance, one of the mutations associated with cardiac involvement in ATTRm amyloidosis, Ile68Leu, presents with high NT-proBNP concentrations, comparable to those observed in patients with cardiac AL amyloidosis. In our series, survival of patients with Ile68Leu ATTRm is not different from that of cardiac AL patients. Thus, it is possible that NT-proBNP represents a viable marker for early diagnosis of cardiac involvement in ATTR patients with “aggressive” mutations. This marker could be considered in the screening of carriers of these mutations. Despite the lack of systematic studies of cardiac biomarkers in ATTR amyloidosis, the results of several small published series and the analysis of the Pavia patient population, indicate that NT-proBNP and cardiac troponins have prognostic value in this disease, correlating to amyloid burden and adding to known prognostic factors. The availability of several novel therapeutic options for ATTRm, require objective means for the assessment of treatment efficacy in routine clinical practice and in clinical trials. Early results from the Pavia series indicate that NT-proBNP progression portends a poor prognosis, and cardiac biomarkers will probably find their place in the evaluation of response to therapy in ATTRm amyloidosis. Cardiac biomarkers will most likely become increasingly useful in the management of patients with ATTRm amyloidosis in the near future. However, studies of biomarkers in this disease are hindered by small numbers and disease heterogeneity. Prospective studies and international collaboration are warranted to define the role of cardiac biomarkers in the diagnosis and follow-up of cardiac ATTRm amyloidosis.