Marco Merlo

Università degli Studi di Trieste, Trst, Friuli Venezia Giulia, Italy

Are you Marco Merlo?

Claim your profile

Publications (68)277.28 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: An important number of patients with idiopathic dilated cardiomyopathy have dramatically improved left ventricular function with optimal treatment; however, little is known about the evolution and long-term outcome of this subgroup, which shows apparent healing. This study assesses whether real healing actually exists in dilated cardiomyopathy . Persistent apparent healing was evaluated among 408 patients with dilated cardiomyopathy receiving tailored medical treatment and followed over the very long-term. Persistent apparent healing was defined as left ventricular ejection fraction ≥50% and indexed left ventricular end-diastolic diameter ≤33 mm/m(2) at both mid-term (19±4 months) and long-term (103±9 months) follow-up. At mid-term, 63 of 408 patients (15%) were apparently healed; 38 (60%; 9% of the whole population) showed persistent apparent healing at long-term evaluation. No predictors of persistent apparent healing were found. Patients with persistent apparent healing showed better heart transplant-free survival at very long-term follow-up (95% versus 71%; P=0.014) compared with nonpersistently normalized patients. Nevertheless, in the very long term, 37% of this subgroup experienced deterioration of left ventricular systolic function, and 5% died or had heart transplantation. Persistent long-term apparent healing was evident in a remarkable proportion of dilated cardiomyopathy patients receiving optimal medical treatment and was associated with stable normalization of main clinical and laboratory features. This condition can be characterized by a decline of left ventricular function over the very long term, highlighting the relevance of serial and individualized follow-up in all patients with dilated cardiomyopathy, especially considering the absence of predictors for long-term apparent healing. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.
    Journal of the American Heart Association 12/2015; 4(1). DOI:10.1161/JAHA.114.001504 · 2.88 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The aim of the study was to assess the clinical and prognostic impact of early functional mitral regurgitation (FMR) improvement on the outcome of patients with idiopathic dilated cardiomyopathy (IDC). The prevalence and prognostic role of FMR improvement, particularly at early follow-up, in patients with IDC are still unclear. From 1988 to 2009, we enrolled 470 patients with IDC with available FMR data at baseline and after 6 ± 2 months. According to the evolution of FMR, patients were classified into 3 groups: stable absent-mild FMR, early FMR improvement (downgrading from moderate-severe to absent-mild), and persistence/early development of moderate-severe FMR. At baseline, 177 of 470 patients (38%) had moderate-severe FMR. Patients with early FMR improvement had significantly better survival rate-free from heart transplant with respect to those with persistence/early development of moderate-severe FMR (93%, 81%, and 66% vs 91%, 64%, and 52% at 1, 6, and 12 years, respectively; p = 0.044). At 6-month follow-up multivariate analysis, FMR improvement was associated with better prognosis (hazard ratio 0.78, 95% confidence interval [CI] 0.64 to 0.96, p = 0.02); the other independent predictors were male gender, heart failure duration, and early re-evaluation of the New York Heart Association class and left ventricle systolic function. This model provided more accurate risk stratification compared with the baseline model (Net Reclassification Index 80% at 12 months and 41% at 72 months). In conclusion, in a large cohort of patients with IDC receiving optimal medical treatment, early improvement of FMR was frequent (53%) and emerged as a favorable independent prognostic factor with an incremental short- and long-term power compared with the baseline evaluation. Copyright © 2015 Elsevier Inc. All rights reserved.
    The American Journal of Cardiology 01/2015; 115(8). DOI:10.1016/j.amjcard.2015.01.549 · 3.43 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pulmonary artery aneurysm unassociated to congenital heart disease and pulmonary hypertension is exceedingly rare. Its pathogenesis and correct management remain unknown. Sarcoidosis is a systemic disease that can exceptionally involve large vessels, leading to stenosis and dilatation. Pulmonary artery aneurysm has never been described in association with sarcoidosis. Surgical approach should prevent aneurysm rupture, but it is not known when surgery should be preferred to strict medical follow-up. In this report we present a case of large pulmonary artery aneurysm associated to systemic sarcoidosis underlining problematic management of diseases 'forgotten' by evidence based medicine.
    Journal of Cardiovascular Medicine 01/2015; 16 Suppl 14:S77-S78. DOI:10.2459/JCM.0b013e328365a04f · 1.51 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The aims of this study were to investigate the clinical outcomes of patients with low-gradient aortic stenosis despite preserved left ventricular ejection fraction and to assess reliable prognostic clinical-instrumental features in patients experiencing or not experiencing aortic valve replacement (AVR). Clinical-laboratory and echocardiographic data from 167 patients (median age 78 years, interquartile range 69 to 83) with aortic valve areas <1.0 cm(2), mean gradients ≤30 mm Hg, and preserved left ventricular ejection fraction (≥55%), enrolled from 2005 to 2010, were analyzed. During a mean follow-up period of 44 ± 23 months, 33% of patients died. On multivariate analysis, independent predictors of death were baseline New York Heart Association functional class III or IV (hazard ratio 2.16, p = 0.038) and atrial fibrillation (hazard ratio 2.00, p = 0.025). Conversely, AVR was protective (hazard ratio 0.25, p = 0.01). The magnitude of the protective effect of AVR seemed to be relatively more important in patients with atrial fibrillation than in those in sinus rhythm, independently of the severity of symptoms. Age >70 years showed a trend toward being a prognostic predictor (p = 0.082). In conclusion, in patients with low-gradient aortic stenosis despite a preserved left ventricular ejection fraction, AVR was strongly correlated with a better prognosis. Patients with atrial fibrillation associated with advanced New York Heart Association class had the worst prognosis if treated medically but at the same time a relative better benefit from surgical intervention.
    The American Journal of Cardiology 09/2014; 114(11). DOI:10.1016/j.amjcard.2014.09.007 · 3.43 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Background Genotype-phenotype correlations are poorly characterised in arrhythmogenic right ventricular cardiomyopathy (ARVC). We investigated whether carriers of rare variants in desmosomal genes (DC) and titin gene (TTN) display different phenotypes and clinical outcomes compared with non-carriers (NT-ND). Methods and results Thirty-nine ARVC families (173 subjects, 67 affected) with extensive follow-up (mean 9 years), prospectively enrolled in the International Familial Cardiomyopathy Registry since 1991, were screened for rare variants in TTN and desmosomal genes (DSP, PKP2, DSG2, DSC2). Multiple clinical and outcome variables were compared between three genetic groups (TTN, DC, NT-ND) to define genotype-phenotype associations. Of the 39 ARVC families, 13% (5/39) carried TTN rare variants (11 affected subjects), 13% (5/39) DC (8 affected), while 74% (29/39) were NT-ND (48 affected). When compared with NT-ND, DC had a higher prevalence of inverted T waves in V2-3 (75% vs 31%, p= 0.004), while TTN had more supraventricular arrhythmias (46% vs 13%, p= 0.013) and conduction disease (64% vs 6% p< 0.001). When compared with the NT-ND group, the DC group experienced a worse prognosis (67% vs 11%, p= 0.03) and exhibited a lower survival free from death or heart transplant (59% vs 95% at 30 years, and 31% vs 89% at 50 years, HR 9.66, p= 0.006), while the TTN group showed an intermediate survival curve (HR 4.26, p= 0.037). Conclusions TTN carriers display distinct phenotypic characteristics including a greater risk for supraventricular arrhythmias and conduction disease. Conversely, DC are characterised by negative T waves in anterior leads, severe prognosis, high mortality and morbidity.
    Journal of Medical Genetics 08/2014; 51(10). DOI:10.1136/jmedgenet-2014-102591 · 5.64 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Recent studies suggested that resting heart rate (RHR) might be an independent predictor of cardiovascular mortality and morbidity. Nonetheless, the interrelation between RHR and cardiovascular diseases is not clear. In order to resolve this puzzle, the importance of genetic determinants of RHR has been recently suggested, but it needs to be further investigated. The aim of this study was to estimate the contribution of common genetic variations on RHR using Genome Wide Association Study. We performed a Genome Wide Association Study in an isolated population cohort of 1737 individuals, the Italian Network on Genetic Isolates - Friuli Venezia Giulia (INGI-FVG). Moreover, a haplotype analysis was performed. A regression tree analysis was run to highlight the effect of each haplotype combination on the phenotype. A significant level of association (p<5×10(-8)) was detected for Single Nucleotide Polymorphisms (SNPs) in two genes expressed in the heart: MAML1 and CANX. Founding that the three different variants of the haplotype, which encompass both genes, yielded a phenotypic correlation. Indeed, a haplotype in homozygosity is significantly associated with the lower quartile of RHR (RHR≤58bpm). Moreover no significant association was found between cardiovascular risk factors and the different haplotype combinations. Mastermind-like 1 and Calnexin were found to be associated with RHR. We demonstrated a relation between a haplotype and the lower quartile of RHR in our populations. Our findings highlight that genetic determinants of RHR may be implicated in determining cardiovascular diseases and could allow a better risk stratification.
    Gene 03/2014; DOI:10.1016/j.gene.2014.03.045 · 2.08 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: ACE-inhibitors, β-blockers, implantable cardioverter-defibrillator (ICD) and cardiac resynchronization therapy (CRT) improved prognosis of heart failure. We sought to analyse the long-term prognostic impact of evidence-based integrated therapeutic strategies in patients with idiopathic dilated cardiomyopathy (IDCM). From 1978 to 2007, 853 IDCM patients (45 ± 15 years, 72% males) were enrolled and classified as follows: Group 1, 110 patients (12.8%) enrolled during 1978-1987; Group 2, 376 patients (44.1%) enrolled during 1988-1997; Group 3, 367 patients (43.1%) enrolled during 1998-2007. ACE-inhibitors/angiotensin receptor blockers were administered in 34%, 93%, and 93% (P <0.001), and β-blockers in 11%, 82%, and 86% (P <0.001) in Groups 1, 2, and 3, respectively; ICDs were implanted in 2%, 14%, and 13% (P = 0.005); mean time to device implantation was lower in Group 3. At 8 years, heart transplant (HTx)-free survival rates were 55%, 71%, and 87% in Groups 1, 2, and 3, respectively (P <0.001). Similar progressive improvement was found for pump-failure death (DHF)/HTx, while survival free from sudden death (SD) was significantly improved only in Group 3. Multivariable models considering competing risk indicated early diagnosis (i.e. a baseline less advanced disease stage) and tailored medical therapy (HR 0.44, CI 95% 0.19-0.98) as independent protectors against DHF/HTx. Concerning SD, lower left ventricular ejection fraction emerged as a predictor, while ICD was the only therapy with a protective role (HR 0.08, CI 95% 0.01-0.61). Treatment with digitalis emerged as a predictor of both DHF/HTx and SD. An effective management and evidence-based integrated therapeutic approach progressively and significantly improved the long-term prognosis of IDCM during the last three decades.
    European Journal of Heart Failure 03/2014; 16(3). DOI:10.1002/ejhf.16 · 6.58 Impact Factor
  • Source
    International journal of cardiology 01/2014; 171(3). DOI:10.1016/j.ijcard.2013.12.137 · 6.18 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene using segregation analysis in a large DCM family. Exome sequencing was performed on three distant relatives from a large family with a clear DCM phenotype. Missense, nonsense, and splice variants were analyzed for segregation among the three affected family members and confirmed in other relatives by direct sequencing. A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also detected in one additional DCM family in our registry. The inclusion of segregation analysis using distant family members markedly improved the bioinformatics filtering process by removing from consideration variants that were not shared by all affected subjects. Haplotype analysis confirmed that the variant found in both DCM families was located on two distinct haplotypes, supporting the notion of independent mutational events in each family. In conclusion, an exome sequencing strategy that includes segregation analysis using distant affected relatives within a family represents a viable diagnostic strategy in a genetically heterogeneous disease like DCM.
    PLoS ONE 10/2013; 8(10):e78104. DOI:10.1371/journal.pone.0078104 · 3.53 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: In dilated cardiomyopathy (DCM), the clinical and prognostic implications of rare variants in sarcomeric genes remain poorly understood. To address this question, we analyzed the outcome of rare sarcomeric gene variants in patients enrolled in our Familial Cardiomyopathy Registry. DCM families harboring rare sarcomeric variants in MYH6, MYH7, MYBPC3, TNNT2, and TTN were identified. Genotype-phenotype association analysis was performed, and long-term survival-free from death or heart transplant was compared between carriers and noncarriers. We found 24 rare variants (3 in MYH6, 3 in MYH7, 3 in MYBPC3, 2 in TNNT2, and 13 in TTN) affecting 52 subjects in 25 families. The phenotypes of variant carriers were severe (3 sudden deaths, 6 heart failure deaths, 8 heart transplants, 2 ventricular fibrillations). There was no difference in the overall long-term survival between carriers and the 33 noncarriers (p = 0.322). However after 50 years of age, the combined endpoint of death or transplant was decreased in carriers as compared to noncarriers (p = 0.026). Patients with DCM carrying rare variants in sarcomeric genes manifest a poorer prognosis as compared to noncarriers after the age of 50 years. These data further support the role of genetic testing in DCM for risk stratification.
    Clinical and Translational Science 10/2013; 6(6). DOI:10.1111/cts.12116 · 2.11 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Active myocarditis (AM) is characterized by large heterogeneity of clinical presentation and evolution. This study describes the characteristics and the long-term evolution of a large sample of patients with biopsy-proven active AM, looking for accessible and valid early predictors of long-term prognosis. From 1981 to 2009, 82 patients with biopsy-proven AM were consecutively enrolled and followed-up for 147±107 months. All patients underwent clinical and echocardiographic evaluation at baseline and at 6 months. At this time, improvement/normality of left ventricular ejection fraction (LVEF), defined as a LVEF increase > 20 percentage points and/or presence of LVEF≥50%, was assessed. At baseline, left ventricular (LV) dysfunction (LVEF <50%) and left atrium enlargement were independently associated with long-term heart transplantation (HTx)-free survival, regardless of the clinical pattern of disease onset. At 6 months, improvement/normality of LVEF was observed in 53% of patients. Persistence of NYHA III-IV classes, left atrium enlargement and improvement/normality of LVEF at 6 months emerged as independent predictors of long-term outcome. Notably, the short-term revaluation showed a significant incremental prognostic value when compared to the baseline evaluation (baseline model vs 6 months model: Area Under the Curve 0.79 vs 0.90, p=0.03). Baseline LV function is a marker for prognosis regardless of the clinical pattern of disease onset and its reassessment at 6 months appears useful for assessing longer term outcome.
    Circulation 10/2013; 128(22). DOI:10.1161/CIRCULATIONAHA.113.003092 · 14.95 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The management of refractory recurrent pericarditis is challenging. Previous clinical reports have noted a beneficial effect of high-dose intravenous human immunoglobulins (IvIgs) in isolated and systemic inflammatory disease-related forms. In this article, we analyzed retrospectively our clinical experience with IvIg therapy in a series of clinical cases of pericarditis refractory to conventional treatment. We retrospectively analyzed 9 patients (1994 to 2010) with refractory recurrent pericarditis, who received high-dose IvIg as a part of their medical treatment. Nonsteroidal anti-inflammatory drugs (NSAIDs), steroids, or colchicine treatment was not discontinued during IvIg treatment. No patients had a history of autoimmune or connective tissue diseases. During an average period of 11 months from the first recurrence, patients had experienced a mean of 5 relapses before the first IvIg treatment. In 4 cases, patients showed complete clinical remission with no further relapse after the first IvIg cycle. Two patients experienced a single minor relapse, responsive to short-term nonsteroidal anti-inflammatory drugs. In 2 patients, we performed a second cycle of IvIg after a recurrence of pericarditis, with subsequent complete remission. One patient did not respond to 3 cycles of IvIg and subsequently underwent pericardial window and long-term immunosuppressive treatment. No major adverse effect was observed in consequence of IvIg administration in all the cases. In conclusion, although IvIg mode of action is still poorly understood in this setting, this treatment can be considered as an option in patients with recurrent pericarditis refractory to conventional medical treatment and, in our small series, has proved to be effective in 8 of 9 cases.
    The American journal of cardiology 08/2013; 112(9). DOI:10.1016/j.amjcard.2013.06.036 · 3.43 Impact Factor
  • Source
    Journal of the American College of Cardiology 03/2013; 61(10). DOI:10.1016/S0735-1097(13)60595-1 · 15.34 Impact Factor
  • Source
    Journal of the American College of Cardiology 03/2013; 61(10). DOI:10.1016/S0735-1097(13)60359-9 · 15.34 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: BACKGROUND AND AIMS: Cardiac amyloidosis (CA) is usually characterised by a poor outcome in the short-term; clinical and instrumental features are heterogeneous and could characterise subgroups with different prognoses. The aim of our study was to describe a subgroup of patients with CA showing an impressive favourable long-term survival. METHODS: Out of 50 patients (males 65%, 63±11 years) with an echocardiographic and bioptic diagnosis of CA observed from 1991 to 2009, we selected a subgroup of patients surviving more than 50 months from diagnosis (group 1). We described their features at enrolment and during follow-up, comparing them with patients surviving less than 12 months (group 2). RESULTS: We found seven patients (14%) belonging to group 1 and 26 (52%) to group 2. Four out of seven long term survivors suffered from AL amyloidosis, in one case the underlying aetiology was a chronic inflammatory disease, while in two cases remained unknown. At enrolment, group 1 patients showed higher systolic blood pressure with respect to group 2 (140±25 vs. 112±18mmHg, respectively, p=0.011), and a less thick interventricular septum (IVS) (IVS thickness >15mm in 29% vs. 69% of patients, p=0.049). No patient of group 1 presented left ventricular restrictive filling pattern (0 vs. 31% in group 1 and 2 respectively, p=0.035), atrial fibrillation (0 vs. 35%, p=0.024), or progression towards a more severe disease during follow-up. CONCLUSIONS: A not negligible proportion of patients with CA can have a long-term survival. They showed a less severe disease at diagnosis, with substantial stability over time. Further studies on larger populations are necessary to understand the mechanisms underlying this more favourable natural history of the disease.
    Heart, Lung and Circulation 02/2013; 22(8). DOI:10.1016/j.hlc.2013.01.010 · 1.17 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: A number of studies have shown that the implantable cardioverter-defibrillator (ICD) is the most effective therapy for the prevention of sudden cardiac death from ventricular arrhythmias in patients with ischemic heart disease and severe left ventricular dysfunction. However, ejection fraction should not be considered the only parameter for the identification of candidates to ICD; this may lead to a "hyper-simplification" of the choices and to often unnecessary or inappropriate implantations. The purpose of this paper was to review the literature data regarding indications for ICD implantation in primary prevention in patients with severe ischemic left ventricular dysfunction by taking into account different clinical settings, in particular the biological age, the comorbidity profile, the temporal length between the ischemic event and ICD implantation, the possible impact of revascularization in reducing the arrhythmic risk.
    Giornale italiano di cardiologia (2006) 09/2012; 13(9):592-601. DOI:10.1714/1133.12487
  • [Show abstract] [Hide abstract]
    ABSTRACT: BACKGROUND: It remains unclear whether idiopathic dilated cardiomyopathy (DCM) might ensue as the consequence of viral myocarditis, due to viral persistence in cardiomyocytes. To address this issue, we quantified the levels of enterovirus, Epstein-Barr virus (EBV), Herpes Simplex Virus-1 (HSV-1), Herpes Simplex Virus-2 (HSV-2), adenovirus and parvovirus B19 genomes in endomyocardial biopsies (EMBs) from patients with DCM, active myocarditis and controls. METHODS: Real-time polymerase chain reaction (PCR)-based methods using TaqMan probes were developed for the quantitative detection of viral genomes in EMBs from 35 patients with DCM and 17 with active myocarditis. A control group included 20 surgical patients with valve or coronary artery disease. RESULTS: None of the 72 samples tested positive for enteroviruses, EBV, HSV-1 or -2. One DCM patient tested positive for adenovirus. Of notice, 20/52 (38%) of patients with cardiomyopathy and 8/20 (40%) of controls were positive for parvovirus B19; no significant differences in viral titre were detected between groups. CONCLUSIONS: Our preliminary results disfavour the hypothesis that persistent myocardial viral infection might be a frequent cause of DCM. The detection of parvovirus B19 from both cardiomyopathy and non-cardiomyopathy patients supports the notion that this virus is widely spread in the population.
    Heart, Lung and Circulation 08/2012; 21(12). DOI:10.1016/j.hlc.2012.07.013 · 1.17 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: AIMS: To evaluate the long-term prognostic impact of baseline symptoms in a cohort of hypertrophic cardiomyopathy (HCM) patients. METHODS AND RESULTS: We considered 84 HCM patients symptomatic at diagnosis: 26 (31%) with heart failure (group 1), 34 (40%) with syncope/palpitations (group 2) and 24 (29%) with chest pain (group 3). During a median follow-up of 102 (53-187) months, 25 (30%) patients died/underwent heart transplant (HTx), 14 of 26 (54%) in group 1, 10 of 34 (29%) in group 2 and one of 24 (4%) in group 3. At 12, 60 and 120 months, HTx-free survival rates were 100, 79 and 52% in group 1, vs. 100, 97 and 69% in group 2, vs. 96, 96 and 96% in group 3, respectively (P = 0.008). At multivariate analysis, heart failure [hazard ratio (HR) 2.59, confidence interval (CI) 95% 1.09-6.17, P = 0.032] and left atrium diameter (HR 1.83, CI 95% 1.16-2.89, P = 0.009) emerged as independent predictors of death/HTx, with incremental prognostic power with respect to echo Doppler variables of left ventricular systolic and diastolic dysfunction [area under the curve (AUC) of receiver operating characteristics (ROC) curves at 5 years: 0.90 vs. 0.78, respectively, P = 0.03]. CONCLUSION: Clinical presentation emerged as a relevant prognostic tool in HCM patients symptomatic at onset, as heart failure was associated with a particularly poor outcome. Heart failure and left atrium diameter at diagnosis showed incremental prognostic power compared with echo Doppler assessment of left ventricular systolic and diastolic dysfunction.
    Journal of Cardiovascular Medicine 08/2012; 13(12). DOI:10.2459/JCM.0b013e328356a231 · 1.51 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: BACKGROUND: The natural history of perimyocarditis (PMY) is not yet completely known. We aimed to analyse the clinical laboratory data of PMY at diagnosis and during follow-up, in order to assess the natural history and prognostic stratification of the disease (including different aetiology). METHODS: We enrolled 62 consecutive patients (men 79%, aged 38 ± 18 years) with PMY (84% idiopathic, 8% autoimmune, 8% infective) from August 2002 to July 2010. The diagnosis has been made according to clinical and laboratory data (significant increase of troponin I in all patients). After at least 1 year (mean follow-up: 1635 ± 298 days), 59 patients (95%) had available data. RESULTS: Chest pain was present in 59 patients (95%), flu-like syndrome in 36 (58%) and pericardial rubs in 15 (24%). None of the patients showed heart failure at presentation. At admission, eight patients (13%) presented mild-moderate left ventricular systolic dysfunction, 13 (22%) showed wall motion abnormalities, and 10 (17%) showed mild pericardial effusion. At 1 year no patients died, developed heart failure or showed abnormal echocardiogram. NSAIDs were the first choice therapy in 61 (98%) patients with clinical resolution in 58 (95%) of them. Seven patients (12%) experienced intermittent recurrences without development of constrictive pericarditis or heart failure. CONCLUSION: This study underlines the benign mid- to long-term outcome of PMY regardless of clinical laboratory characteristics at presentation, different aetiology and possibility of relapses; minimizing the role of endomyocardial biopsy in these specific patients.
    Journal of Cardiovascular Medicine 05/2012; 14(3). DOI:10.2459/JCM.0b013e328351da6e · 1.51 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: AIM: Amyloidosis is a systemic disease, related to different underlying causes, with frequent cardiac involvement. Clinical evaluation, echocardiography and electrocardiography represent important noninvasive tools in identification of cardiac involvement. The aim of this study was to assess the clinical-laboratory features of a series of patients affected by cardiac amyloidosis in order to evaluate the risk of cardiac mortality. METHODS: We evaluated 48 patients (men 65%, mean age 63 ± 11 years) with biopsy-proven diagnosis of amyloidosis and heart involvement observed from 1991 to 2009. All patients underwent clinical-laboratory evaluation at baseline and were followed up. RESULTS: During a median follow-up of 9.5 months (first to third interquartile: 3-41.5 months), 24 patients (50%) died as a result of a cardiac cause. Survival free from cardiac death was 69, 50, 48 and 41% at 6, 12, 24 and 60 months from diagnosis, respectively. At multivariable Cox regression analysis, the presence of heart failure at enrolment [hazard ratio (HR) 4.67, 95% confidence interval (CI) 1.07-20.27, P = 0.04] and history of recent syncope (HR 3.97, 95% CI 1.28-12.34, P = 0.017) emerged as independent predictors of cardiac death. By using the equation derived from the multivariate analysis, individual survival probability at different times of follow-up was calculated. CONCLUSION: We confirm the particularly poor outcome of cardiac amyloidosis in the short term. A careful clinical evaluation emerges as the most important tool for the prognostic stratification and quantification of risk in patients with cardiac amyloidosis.
    Journal of Cardiovascular Medicine 05/2012; 14(4). DOI:10.2459/JCM.0b013e3283536534 · 1.51 Impact Factor

Publication Stats

384 Citations
277.28 Total Impact Points

Institutions

  • 2008–2015
    • Università degli Studi di Trieste
      • Department of Medicine, Surgery and Health Sciences
      Trst, Friuli Venezia Giulia, Italy
  • 2005–2015
    • Azienda Ospedaliero - Universitaria "Ospedali Riuniti" Trieste
      Trst, Friuli Venezia Giulia, Italy
  • 2012
    • Azienda Ospedaliero Universitaria Foggia
      Foggia, Apulia, Italy
    • Harvard Medical School
      • Department of Genetics
      Boston, Massachusetts, United States
  • 2010
    • Ospedali Riuniti di Bergamo
      Bérgamo, Lombardy, Italy