[Show abstract][Hide abstract] ABSTRACT: Knowledge of mitral regurgitation (MR) is essential for any care provider, and not only for those directly involved in the management of cardiovascular diseases. This happens because MR is the most frequent valvular lesion in North America and the second most common form of valve disease requiring surgery in Europe. Furthermore, due to the ageing of the general population and the reduced mortality from acute cardiovascular events, the prevalence of MR is expected to increase further. Doppler echocardiography is essential both for the diagnosis and the clinical management of MR. In the present article, we sought to provide a practical step-by-step approach to help either performing a Doppler echocardiography or interpreting its findings in light of contemporary knowledge on organic (but not only) MR.
Preview · Article · Oct 2015 · Journal of cardiovascular ultrasound
[Show abstract][Hide abstract] ABSTRACT: Cardiac resynchronization is a well tolerated and effective therapy for heart failure, but 30% of patients still do not respond to biventricular pacing. Optimization of device settings, in particular interventricular delay value, represents a plausible target for improving these results, but available literature is discordant. We aimed our study at the identification of the best suitable candidates to interventricular delay optimization.
A total of 77 consecutive patients with optimized drugs therapy underwent clinical, echocardiographic and electrocardiographic evaluation before and after 6 months from implantation of a biventricular defibrillator in accordance to current guidelines. In each patient, atrioventricular and interventricular delay values were optimized at predischarge with echocardiogram.
The only predictor of an optimized interventricular delay value different from simultaneous (i.e. standard shipment setting), at both univariate and multivariate analyses, was a QRS duration greater than 160 ms (odds ratio 22.958; P = 0.003) with a sensitivity of 70.9%.
Candidates to cardiac resynchronization therapy with a basal QRS greater than 160 ms have a higher chance of requiring echo-guided tailoring of interventricular delay value. A strategy based on these data can potentially improve device programming, reducing by one-third the need for optimization, according to our findings, and at the same time avoid unnecessary time-consuming procedures.
No preview · Article · Dec 2014 · Journal of Cardiovascular Medicine
[Show abstract][Hide abstract] ABSTRACT: Background:
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.
Methods and results:
We assessed the relation between LGE and cardiovascular outcomes in 1293 HCM patients referred for cardiovascular magnetic resonance and followed up for a median of 3.3 years. Sudden cardiac death (SCD) events (including appropriate defibrillator interventions) occurred in 37 patients (3%). A continuous relationship was evident between LGE by percent left ventricular mass and SCD event risk in HCM patients (P=0.001). Extent of LGE was associated with an increased risk of SCD events (adjusted hazard ratio, 1.46/10% increase in LGE; P=0.002), even after adjustment for other relevant disease variables. LGE of ≥15% of LV mass demonstrated a 2-fold increase in SCD event risk in those patients otherwise considered to be at lower risk, with an estimated likelihood for SCD events of 6% at 5 years. Performance of the SCD event risk model was enhanced by LGE (net reclassification index, 12.9%; 95% confidence interval, 0.3-38.3). Absence of LGE was associated with lower risk for SCD events (adjusted hazard ratio, 0.39; P=0.02). Extent of LGE also predicted the development of end-stage HCM with systolic dysfunction (adjusted hazard ratio, 1.80/10% increase in LGE; P<0.03).
Extensive LGE measured by quantitative contrast enhanced CMR provides additional information for assessing SCD event risk among HCM patients, particularly patients otherwise judged to be at low risk.
[Show abstract][Hide abstract] 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.
Full-text · Article · Jun 2014 · The American Journal of Cardiology
[Show abstract][Hide abstract] 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.
Full-text · Article · Jun 2014 · Giornale italiano di cardiologia (2006)
[Show abstract][Hide abstract] 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.
No preview · Article · Feb 2014 · Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology
[Show abstract][Hide abstract] 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.
No preview · Article · Feb 2014 · The American journal of cardiology
[Show abstract][Hide abstract] 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.
Full-text · Article · Oct 2013 · European Heart Journal
[Show abstract][Hide abstract] ABSTRACT: Purpose: Arrythmogenic right ventricular cardiomyopathy (ARVC) is predominantly known as a cause of sudden death and ventricular arrhythmias in the young, whereas the relationship between ARVC and heart failure (HF) has been scarcely investigated. We aimed this study to evaluate prevalence, incidence, pathophysiology and morphologic basis of ARVC leading to severe HF.
Methods: We retrospectively analyzed 60 patients with ARVC evaluated at a single referral centre. We compared the clinical, electrocardiographic, hemodynamic and echocardiographic findings of ARVC patients with/without severe HF (NYHA III-IV) at first evaluation or during follow up. We also analyzed the histopathological findings of the explanted hearts of patients who underwent heart transplantation.
Results: Severe HF was present in 10 patients at presentation (prevalence=16%) and occurred in other 9 during a median follow up of 68 months (IQR 24-127; incidence=2.3% person-years). Fourteen patients (23%) required heart transplantation and 40 patients (66%) underwent ICD implantation. Patients with advanced HF were younger at symptom onset (47±16 versus 37±12 years, p=0.01) and more often had epsilon waves in the right precordial leads (53% versus 8%, p=0.001) and low voltages in the peripheral leads (46% versus 16%, p=0.05); right ventricle (RV) was larger and more hypokinetic at echocardiography (RVOT 41±6 versus 37±6 mm, p=0.02; RV end diastolic internal diameter 35±12 versus 28±8 mm, p=0.01; fractional shortening area 24%±8 versus 31%±11, p= 0.016). Interestingly, left ventricle (LV) was slightly more dilated (75±30 ml/m2 versus 60±20, p= 0.02) and globally hypokinetic (LV Ejection Fraction =41%±16 versus 57%±12, p= 0.001). The hemodynamic profile of patients who underwent cardiac transplantation was characterized by low cardiac index (1.8±0.2 l//min/m2) with normal or nearly normal capillary wedge and pulmonary pressure (12±8 mmHg and 26±10 mmHg). A detailed histological analysis of the explanted hearts showed extensive (>60% of the surface) fibro-fatty infiltration of the right ventricle and isolated or confluent areas of LV fibrosis. In 4 patients (28%) flogistic infiltrations were also evident.
Conclusions: In ARVC, HF can be the only symptom at presentation and leads to heart transplantation in a relevant subset of patients. Patients who develop advanced HF are younger, have more severe right ventricular involvement associated with slight dilation and global hypokinesia of the LV, due to fibrotic infiltration.
Preview · Article · Aug 2013 · European Heart Journal
[Show abstract][Hide abstract] 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.
No preview · Article · Feb 2013 · Giornale italiano di cardiologia (2006)
[Show abstract][Hide abstract] 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.