Elena Biagini

Università degli Studi di Siena, Siena, Tuscany, Italy

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Publications (123)564.93 Total impact

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    ABSTRACT: Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden death in the young, although not all patients eligible for sudden death prevention with an implantable cardioverter-defibrillator are identified. Contrast-enhanced cardiovascular magnetic resonance with late gadolinium enhancement (LGE) has emerged as an in vivo marker of myocardial fibrosis, although its role in stratifying sudden death risk in subgroups of HCM patients remains incompletely understood.
    Circulation 08/2014; 130(6):484-95. · 15.20 Impact Factor
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    ABSTRACT: End-stage hypertrophic cardiomyopathy (ES-HC) has an ominous prognosis. Whether genotype can influence ES-HC occurrence is unresolved. We assessed the spectrum and clinical correlates of HC-associated mutations in a large multicenter cohort with end-stage ES-HC. Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed in 156 ES-HC patients with left ventricular (LV) ejection fraction (EF) <50%. A comparison among mutated and negative ES-HC patients and a reference cohort of 181 HC patients with preserved LVEF was performed. Overall, 131 mutations (36 novel) were identified in 104 ES-HC patients (67%) predominantly affecting MYH7 and MYBPC3 (80%). Complex genotypes with double or triple mutations were present in 13% compared with 5% of the reference cohort (p = 0.013). The distribution of mutations was otherwise indistinguishable in the 2 groups. Among ES-HC patients, those presenting at first evaluation before the age of 20 had a 30% prevalence of complex genotypes compared with 19% and 21% in the subgroups aged 20 to 59 and ≥60 years (p = 0.003). MYBPC3 mutation carriers with ES-HC were older than patients with MYH7, other single mutations, or multiple mutations (median 41 vs 16, 26, and 28 years, p ≤0.001). Outcome of ES-HC patients was severe irrespective of genotype. In conclusion, the ES phase of HC is associated with a variable genetic substrate, not distinguishable from that of patients with HC and preserved EF, except for a higher frequency of complex genotypes with double or triple mutations of sarcomere genes.
    The American journal of cardiology. 06/2014;
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    ABSTRACT: Multimodal imaging plays a pivotal role in the assessment of the thoracic aorta, both in chronic and acute settings. Moving from improved knowledge on the structure and function of the aortic wall, as well as on its pathophysiology and histopathology, appropriate utilization of each imaging modality results into a better definition of the patient's need and proper treatment strategy. This review is aimed at highlighting the most critical aspects in this field, providing cardiologists with some novel clues for the imaging approach to patients with thoracic aortic disease.
    Giornale italiano di cardiologia (2006) 06/2014; 15(6):363-75.
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    ABSTRACT: Most usually, the aortic tunnels empty into the left ventricle. Very rarely, they open to the left atrium. The essence of the aortic tunnels is that they bypass the hinges of the valvar leaflets within the aortic root. We have recently encountered an aorto-left atrial tunnel satisfying this criterion.
    Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology 02/2014; · 1.63 Impact Factor
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    ABSTRACT: Patients with hypertrophic cardiomyopathy (HC) are reported to have a mortality rate of about 1.0% per year, and those patients without sudden death risk factors and with no or mild symptoms are generally considered to have a benign clinical presentation. However, the risk of sudden death and the outcome in this latter subgroup have not been investigated systematically and remain unresolved. We assessed the risk of sudden death and outcome in 653 consecutive patients with HC without risk factors and with no or mild symptoms. Over a median follow-up of 5.3 years, 35 patients (5.4%) died of HC-related causes. Mean age at death was 46 ± 20 years in patients who died suddenly and 66 ± 15 and 72 ± 9 years, respectively, in patients who died of heart failure or stroke. Event rate was 0.6% per year for sudden death, 0.2% per year for heart failure death, and 0.1% per year for stroke-related death. Sudden death risk was independently and inversely related to age, and risk of heart failure or stroke death was directly related to age (p = 0.020). At 10 years after the initial evaluation, sudden death risk was 5.9%, with sudden death rate being the lowest (0.3% per year) in patients with normal left atrial dimension (≤40 mm). In conclusion, in patients with HC without conventional risk factors and with no or mild symptoms, the risk of sudden death was not negligible, with an event rate of 0.6% per year. Heart failure and stroke-related death were less common and largely confined to older patients. These results underscore the need for a more accurate assessment of the sudden death risk in patients with HC.
    The American journal of cardiology 02/2014; · 3.58 Impact Factor
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    ABSTRACT: Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death (SCD) in young adults. Current risk algorithms provide only a crude estimate of risk and fail to account for the different effect size of individual risk factors. The aim of this study was to develop and validate a new SCD risk prediction model that provides individualized risk estimates. The prognostic model was derived from a retrospective, multi-centre longitudinal cohort study. The model was developed from the entire data set using the Cox proportional hazards model and internally validated using bootstrapping. The cohort consisted of 3675 consecutive patients from six centres. During a follow-up period of 24 313 patient-years (median 5.7 years), 198 patients (5%) died suddenly or had an appropriate implantable cardioverter defibrillator (ICD) shock. Of eight pre-specified predictors, age, maximal left ventricular wall thickness, left atrial diameter, left ventricular outflow tract gradient, family history of SCD, non-sustained ventricular tachycardia, and unexplained syncope were associated with SCD/appropriate ICD shock at the 15% significance level. These predictors were included in the final model to estimate individual probabilities of SCD at 5 years. The calibration slope was 0.91 (95% CI: 0.74, 1.08), C-index was 0.70 (95% CI: 0.68, 0.72), and D-statistic was 1.07 (95% CI: 0.81, 1.32). For every 16 ICDs implanted in patients with ≥4% 5-year SCD risk, potentially 1 patient will be saved from SCD at 5 years. A second model with the data set split into independent development and validation cohorts had very similar estimates of coefficients and performance when externally validated. This is the first validated SCD risk prediction model for patients with HCM and provides accurate individualized estimates for the probability of SCD using readily collected clinical parameters.
    European Heart Journal 10/2013; · 14.72 Impact Factor
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    ABSTRACT: Improved knowledge of the structure and function of the aortic wall, as well as its pathophysiology and histopathology, will result in an increasing impact on clinical evaluation and treatment of thoracic aortic diseases. This opinion paper highlights the main "paradigmatic shifts" in this field, providing cardiologists with some novel clues for the clinical approach to patients with thoracic aortic disease.
    Giornale italiano di cardiologia (2006) 02/2013; 14(2):97-109.
  • JACC. Cardiovascular imaging 07/2012; 5(7):755-8. · 14.29 Impact Factor
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    ABSTRACT: AimsHereditary transthyretin (TTR)-related amyloidosis (ATTR) is mainly considered a neurologic disease. We assessed the phenotypic and genotypic spectra of ATTR in a Caucasian area and evaluated the prevalence, genetic background, and disease profile of cases with an exclusively cardiac phenotype, highlighting possible hints for the differential diagnosis with hypertrophic cardiomyopathy (HCM) and senile systemic amyloidosis (SSA).Methods and resultsIn this Italian multicentre study, 186 patients with ATTR were characterized at presentation. Thirty patients with SSA and 30 age-gender-matched HCM patients were used for comparison. Phenotype was classified as exclusively cardiac (n = 31, 17%), exclusively neurologic (n = 46, 25%), and mixed cardiac/neurologic (n = 109, 58%). Among the eight different mutations responsible for an exclusively cardiac phenotype, Ile68Leu was the most frequent. Five patients with an exclusively cardiac phenotype developed mild abnormalities at neurological examination, but no symptoms during a 36-month follow-up (range: 14-50). Exclusively cardiac phenotype was characterized by male gender, age >65 years, heart failure symptoms, symmetric left ventricular (LV) 'hypertrophy', and moderately depressed LV ejection fraction. This profile was similar to SSA, but relatively distinct from HCM. Compared with patients with a mixed phenotype, patients with an exclusively cardiac phenotype showed a more pronounced cardiac involvement on both echocardiogram and electrocardiogram (ECG).ConclusionA clinically relevant subset of Caucasian ATTR patients present with an exclusively cardiac phenotype, mimicking HCM or SSA. Echocardiographic and ECG findings are useful to differentiate ATTR from HCM but not from SSA. The role of liver transplantation in these patients should be reconsidered.
    European Heart Journal 06/2012; · 14.72 Impact Factor
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    ABSTRACT: The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
    Orphanet Journal of Rare Diseases 06/2012; 7:37. · 4.32 Impact Factor
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    ABSTRACT: The role of a gender effect (that means differences in clinical manifestations, access to therapies and response to treatments according to gender) in cardiomyopathies remains a matter of debate. Although recent studies have evaluated the differences in the clinical features and prognosis between the two sexes, many issues remain to be elucidated. At present, the only sex-specific condition that affects females is peripartum cardiomyopathy. Recent evidence suggests a pathogenetic role of a prolactin derivative, and ongoing clinical trials are investigating the possibility of targeted therapies using prolactin secretion inhibitors, such as bromocriptine and carbegoline. Although women were considered so far only carriers of X-linked diseases (Anderson-Fabry disease, Danon disease, Hunter syndrome and dystrophinopathies), clinical experience showed a wide spectrum of clinical manifestations in females due to random X chromosome inactivation. Conversely, in mitochondrial diseases (with matrilineal inheritance), cardiomyopathies may occur in the context of clinical multisystemic involvement without significant gender-related differences. Autosomal inherited cardiomyopathies also show different phenotypes and prognostic impact according to gender. The hypothesis of a premenopausal protective role of female hormones towards myocardial involvement has been raised by recent data on transtiretin-related amyloidosis and hypertrophic cardiomyopathy. Preexisting cardiomyopathies may affect pregnancy, labor and delivery in women, since all these conditions are associated with important hemodynamic changes. Women with low-risk hypertrophic cardiomyopathy (asymptomatic and without left ventricular outflow tract gradient) usually can tolerate pregnancy. Conversely, women who are symptomatic before pregnancy or have severe hypertrophy with important outflow tract gradient are at higher risk and should be referred to a tertiary center to be evaluated on a case by case basis. Pregnancy in women with dilated cardiomyopathy and significant left ventricular systolic dysfunction represents a high-risk condition. In addition, information on the clinical course and potential complications in pregnant women with arrhythmogenic right ventricular cardiomyopathy or restrictive cardiomyopathy is limited to individual reports.
    Giornale italiano di cardiologia (2006) 06/2012; 13(6):424-31.
  • European journal of cardio-thoracic surgery: official journal of the European Association for Cardio-thoracic Surgery 01/2012; · 2.40 Impact Factor
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    ABSTRACT: A 35-year-old woman was referred to our centre for clinical management of hyper-trophic cardiomyopathy (HCM) with left ven-tricular (LV) systolic dysfunction (end-stage evolution). She was recently diagnosed else-where because of palpitations. Her 7-year-old daughter underwent familiar screening and she was diagnosed with classic HCM. She was completely asymptomatic without extracardiac or systemic manifestations. During the follow-ing years, they both experienced a similar clin-ical course with worsening dyspnoea and pro-gressive deterioration of LV systolic function. They both underwent heart transplantation, the mother at the age of 47 and the daughter at the age of 23, respectively. Many diagnostic hypotheses, including sarcomeric HCM, Anderson-Fabry disease, glycogen storage dis-eases and mitochondrial cardiomyopathies have been taken into account. The diagnostic work-up included serial electrocardiogram and echocardiographic assessments, pathologic evaluation of the explanted hearts and genetic analysis of 8 sarcomeric and 3 metabolic genes. Even if a shared HCM phenotype (LV systolic dysfunction in two first-degree female family members associated with a likely auto-somal dominant inheritance and absence of extracardiac or multisystemic manifestations) could support a temptative diagnosis of sar-comeric HCM, a definitive diagnosis could not be reached, due to the lack of genetic analysis to confirm such diagnosis.
    Cardiogenetics. 01/2012; 2(1).
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    ABSTRACT: While implications of myocardial fibrosis on left ventricular (LV) function at rest have been studied in hypertrophic cardiomyopathy (HCM), the pathophysiological consequences on dynamic LV outflow tract (LVOT) gradient have so far not been investigated in detail. To evaluate the influence of myocardial fibrosis, detected by MRI as late-gadolinium enhancement (LGE), on LVOT gradient in HCM. Retrospective database analysis. A single Italian cardiomyopathies referral centre. Seventy-six HCM patients with normal ejection fraction at rest. Patients underwent cardiac MR and performed bicycle exercise echocardiogram within a month. LGE was present in 54 patients (71%), ranging from 0.2% to 32.4% of LV mass. There was a weak correlation between the amount of fibrosis and LVOT gradient variation during exercise in the overall population (r=-0.243, p=0.034) and a stronger correlation in patients with obstructive HCM at rest (r=-0.524, p=0.021). Patients with an LVOT gradient increase ≥50 mm Hg during exercise had a significantly lesser extent of fibrosis than those with an increase <50 mm Hg (0.7% (IQR 0-2.4) vs 3.2% (IQR 0.2-7.4), p=0.006). The extent of fibrosis was significantly lower among the highest quartiles of LVOT gradient increase (p=0.009). In patients with HCM and normal ejection fraction at rest, myocardial fibrosis was associated with a lower increase in LVOT gradient during exercise, probably due to a lesser degree of myocardial contractility recruitment. This negative association was more evident in patients with an obstructive form at rest.
    BMJ Open 01/2012; 2(5). · 1.58 Impact Factor
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    ABSTRACT: The aim of this study was to determine whether resting ST-T wave abnormalities (ST-Ta) provide incremental prognostic information in patients with no history of coronary artery disease undergoing dobutamine stress echocardiography (DSE). We evaluated 1308 consecutive patients without previous myocardial infarction (MI) or revascularization who underwent DSE. Ischemia was defined as new or worsening wall motion abnormalities. End points during follow-up were all-cause death and cardiac death/nonfatal MI. ST-Ta were detected in 162 (12%) patients. The incidence of ischemia was higher in patients with baseline ST-Ta than patients without [74 (46%) vs. 327 (28%), P=0.00001]. During a follow-up of 4.6 ± 3 years, cardiac death/nonfatal MI occurred in 42 (26%) patients with resting ST-Ta and in 157 (14%) patients without resting ST-Ta (P<0.001). Patients with ST-Ta had a higher annual cardiac death/nonfatal MI rate compared with patients without, both in the presence of normal DSE (3.2 vs. 1.4%, P=0.01) as well as abnormal DSE (5.3 vs. 3%, P<0.001). In a Cox proportional modeling, resting ST-Ta added incremental value over clinical and stress echocardiographic data for the prediction of death (global χ 125, 140, 150, respectively; P<0.05) and cardiac death/nonfatal MI (global χ 79, 100, 111, respectively; P<0.05). Baseline ST-Ta are associated with an increased risk of cardiac death/nonfatal MI and all-cause mortality, incremental to clinical data and DSE results. The associated risk is persistent among patients with normal DSE.
    Coronary artery disease 09/2011; 22(8):559-64. · 1.56 Impact Factor
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    ABSTRACT: Prediction of aortic dissection or rupture is extremely difficult in patients with bicuspid aortic valve. We aimed to identify clinical and echocardiography predictors of histological abnormalities of the aortic wall in patients with bicuspid aortic valve undergoing aortic surgery. We assessed the histology of the aortic wall and clinical and echocardiography variables in a cohort of patients with bicuspid aortic valve (n = 127) and a wide spectrum of valvar disease who underwent replacement of the ascending aorta (with or without aortic valve surgery). Histology was classified using a 5-grade system developed by Larson and Edward. Histological alterations of the aortic wall were absent/mild (grade 0-1) in 77 patients (61%) and moderate/severe (grade 2-3) in 50 (39%). Patients with moderate/severe histological alterations were younger (47 ± 17 vs 53 ± 16; p = 0.042). Eighteen patients out of 48 (38%) with an ascending aorta diameter ≤ 4.5 cm had grade 2-3 aortic wall disease as did 8 out of 18 (44%) with a diameter ≤ 4 cm. Nineteen out of 46 (41%) patients with a maximal ascending aortic area/height ratio < 10 cm(2) m(-1) had moderate/severe histological alterations. Multivariate logistic regression analysis showed that the indexed diameter of the aortic annulus was significantly associated with grade 2-3 aortic wall disease (odds ratio (OR): 12.22, 95% confidence interval (CI): 1.65-90.38, p = 0.014). A high proportion of patients with bicuspid aortic valve and mild to moderate aortic dilatation have severe histological abnormalities of the aortic wall that are not predictable by clinical and echocardiographic findings. These observations suggest that risk stratification for aortic dissection or rupture in patients with bicuspid aortic valve is so far quite suboptimal and future investigations are warranted.
    European journal of cardio-thoracic surgery: official journal of the European Association for Cardio-thoracic Surgery 08/2011; 41(2):322-7. · 2.40 Impact Factor
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    ABSTRACT: To compare the effects of cardiac resynchronisation therapy (CRT) on left ventricular (LV) reverse remodelling in patients with dilated cardiomyopathy (DCM) associated or not with isolated ventricular non-compaction (IVNC). 52 patients with heart failure, candidates for CRT, were recruited: 20 patients with IVNC associated with DCM (IVNC-DCM) without other coexisting cardiac diseases and 32 patients with DCM without IVNC matched for age, gender, body surface area and LV systolic function. Standard and contrast echocardiography were used to assess LV volumes and function and to optimise visualisation of the endocardial border at baseline and at 6 months' follow-up. Patients with heart failure were subsequently classified as CRT negative responders, non-responders, responders or super-responders based on different LV reverse remodelling 6 months after CRT implantation. Different types of CRT response were observed in IVNC-DCM and DCM patients. In particular, in IVNC-DCM patients the percentage of super-responders was significantly higher than for patients with DCM (60% vs 28%, respectively, p = 0.023). In addition, the number of IVNC segments had a trend towards reduction with respect to baseline (4 (3-6)) at 6 months' follow-up (3 (1-5); p = 0.067). Finally, in IVNC-DCM, the patients with a higher number of IVNC segments at baseline (>4) were more likely to be responders or super-responders than patients with ≤ 4 IVNC segments (p = 0.003). Patients with IVNC-DCM had greater LV reverse remodelling after CRT than patients with DCM. The greater the area of non-compaction (higher number of IVNC segments) the greater the chance of achieving CRT response and greater LV reverse remodelling.
    Heart (British Cardiac Society) 02/2011; 97(4):295-300. · 5.01 Impact Factor
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    ABSTRACT: A nonhereditary form of systemic amyloidosis associated with wild-type transthyretin causes heart involvement predominantly in elderly men (systemic senile amyloidosis, or SSA). However, hereditary transthyretin-related amyloidosis (ATTR) is the most frequent form of familial systemic amyloidosis, a group of severe diseases with variable neurological and organ involvement. ATTR remains a challenging and widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to a strictly cardiac presentation. Such heterogeneity principally results from differential effects of the various reported transthyretin mutations, the geographic region the patient is from and, in the case of the most common mutation, Val30Met, whether or not large foci of cases occur (endemic versus nonendemic aggregation). Genetic or environmental factors (such as age, sex, and amyloid fibril composition) also contribute to the heterogeneity of ATTR, albeit to a lesser extent. The existence of exclusively or predominantly cardiac phenotypes should lead clinicians to consider the possibility of ATTR in all patients who present with an unexplained increase in left ventricular wall thickness at echocardiography. Assessment of such patients should include an active search for possible red flags that can point to the correct final diagnosis.
    Nature Reviews Cardiology 07/2010; 7(7):398-408. · 10.40 Impact Factor
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    ABSTRACT: Apical hypertrophic cardiomyopathy (HC) is an uncommon variant of nonobstructive HC with peculiar characteristics. The investigators report a series of 13 consecutive Caucasian patients with a suspicion or diagnosis of apical HC on the basis of electrocardiographic and/or echocardiographic findings who prospectively underwent magnetic resonance imaging with late gadolinium enhancement (LGE) evaluation. All but 1 patient presented T-wave inversion in the anterolateral leads on electrocardiogram, with a mean maximum negative T wave of 7.0 +/- 3.9 mm. Echocardiography provided correct diagnoses in 9/13 patients (69%), while in 4 patients echocardiographic results were normal or inconclusive. Magnetic resonance imaging showed a spadelike morphology of the left ventricle in 6 patients and identified an apical aneurysm in 4. Eleven patients (85%) presented LGE with a mean percentage of 2.3 +/- 2.6% of total left ventricular mass. In 9 (69%) patients LGE was limited to the hypertrophic segments while in 6 (46%) patients it was also present in nonhypertrophic segments. In conclusion, magnetic resonance imaging in patients with apical HC showed a high incidence of apical aneurysms and a peculiar distribution of LGE, that was not limited to hypertrophic segments.
    The American journal of cardiology 06/2010; 105(11):1592-6. · 3.58 Impact Factor
  • Giornale italiano di cardiologia (2006) 05/2010; 11(5):438-41.

Publication Stats

2k Citations
564.93 Total Impact Points

Institutions

  • 2014
    • Università degli Studi di Siena
      Siena, Tuscany, Italy
  • 2005–2014
    • University of Bologna
      • • Department of Experimental, Diagnostic and Specialty Medicine DIMES
      • • Institute of Cardiology
      Bolonia, Emilia-Romagna, Italy
    • University of Nebraska at Omaha
      • Department of Internal Medicine
      Omaha, NE, United States
    • Ospedale Maggiore Carlo Alberto Pizzardi di Bologna
      • Department of Cardiology
      Bologna, Emilia-Romagna, Italy
  • 2012
    • Galliera Hospital
      • Laboratory of Human Genetics
      Genova, Liguria, Italy
  • 2011–2012
    • Policlinico S.Orsola-Malpighi
      Bolonia, Emilia-Romagna, Italy
  • 2008–2011
    • Erasmus Universiteit Rotterdam
      • Department of Cardiology
      Rotterdam, South Holland, Netherlands
  • 2008–2010
    • Università degli Studi del Sannio
      Benevento, Campania, Italy
  • 2003–2009
    • Erasmus MC
      • Department of Cardiology
      Rotterdam, South Holland, Netherlands
  • 2007
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
      Milano, Lombardy, Italy
  • 2006
    • The Catholic University of America
      Washington, Washington, D.C., United States
    • Marshfield Clinic
      Marshfield, Wisconsin, United States
    • Leiden University Medical Centre
      • Department of Cardiology
      Leiden, South Holland, Netherlands
  • 2005–2006
    • University of Nebraska Medical Center
      • Division of Cardiology
      Omaha, NE, United States
  • 2004–2005
    • Catholic University of the Sacred Heart
      Milano, Lombardy, Italy