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Background: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes. The correlations between T1 values and functional parameters have not been explored. Furthermore, the potential prognostic role of T1 in predicting disease worsening is still unknown. Methods: ECG, 2D echocardiography, cardiopulmonary test, and cardiac magnetic resonance were performed in 44 Fabry patients without left ventricular hypertrophy (35.7±14.5 years, 68.2% females). After a 12-month follow-up, clinical stability was evaluated using Fabry Stabilization Index. Results: At baseline, T1 values showed a negative correlation with left ventricular mass ( r =−0.79; P r =−0.79; P r =−0.54; P r =−0.49; P r =−0.61; P 20%) at follow-up. Higher left ventricular wall thickness (odds ratio, 2.61; CI, 1.04–6.57; P =0.04), left atrial volume (odds ratio, 1.24; CI, 1.02–1.51; P =0.03), and lower T1 values (odds ratio, 0.98; CI, 0.96–0.99; P =0.03) at baseline were independently associated with clinical worsening at follow-up. Conclusions: In prehypertrophic Fabry disease, low T1 values correlate with early electrocardiographic, morphological cardiac changes, and worsening of global disease severity but are not associated with functional abnormalities. The presence of low T1 values is a risk factor for disease worsening, thus representing a potential new tool in prognostic stratification and therapeutic approach.

Contrast-enhanced cardiovascular magnetic resonance plays a pivotal role in diagnostic and prognostic definition of less common pathologies such as Anderson–Fabry disease, cardiac amyloidosis, left ventricular non-compaction, sarcoidosis, and cardiac iron loading. In recent years, new cardiovascular magnetic resonance techniques, such as T1 and T2 mapping, have provided powerful tools for the study of these pathologies, especially those with a hypertrophic phenotype.

Multimodality imaging is the efficient integration of various methods of cardiovascular imaging to improve the ability to diagnose, guide therapy, or predict outcome. This approach implies both the availability of different technologies in a single unit and the presence of dedicated staff with cardiologic and radiologic background and certified competence in more than one imaging technique. Interaction with clinical practice and existence of research programmes and educational activities are pivotal for the success of this model. The aim of this paper is to describe the multimodality cardiac imaging programme recently started at San Donato Hospital.

Background Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. Methods Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12. The Mainz Severity Score Index was calculated for each patient. Pulsed tissue Doppler was applied to the RV free wall at the tricuspid annular level and at the septal and lateral corners at the mitral annular level to obtain systolic tissue Doppler velocities (RV S a , septal S a , and lateral S a , respectively). Twelve patients with amyloid light-chain cardiac amyloidosis were studied as a control group. Results Echocardiography revealed RV hypertrophy (RVH) in 31% of patients with AFD, all but one of whom were male and all of whom had concomitant left ventricular hypertrophy (LVH). All patients with AFD had normal RV fractional area change (47.9 ± 6.5%) and tricuspid annular plane systolic excursion (21.7 ± 3.2 mm) and all but one also had normal RV S a (13.2 ± 2.2 cm/sec). RVH positively correlated with indices of LVH ( r = 0.8, P = .0001, for all parameters evaluated), as well as with Mainz Severity Score Index ( r = 0.70, P = .0001). Septal and lateral S a were decreased in almost all patients (means, 7.7 ± 1.8 and 7.9 ± 1.9 cm/sec, respectively), irrespective of the presence of LVH. Compared with control subjects with cardiac amyloidosis, patients with FC showed better indices of RV systolic function ( P a ) despite similar RV wall thickness (6.2 ± 1.2 vs 6.9 ± 1.9 mm, P = NS). Conclusions RVH is common in patients with AFD and correlates with disease severity and LVH. RVH, however, does not significantly affect RV systolic function. Patients with FC have better RV systolic function compared with those with cardiac amyloidosis with similar levels of RV thickness. The combination of low LV S a values and normal RV S a values might be helpful in the differential diagnosis of infiltrative heart disease.

Background Islets of myocytes within fibrofatty scars represent the substrate for reentrant ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy (ARVC). Electroanatomic mapping can reliably identify such areas. Objective To prospectively test the association between late and fragmented electrograms within scar and arrhythmic events in patients with ARVC. Methods High-density right ventricle electroanatomic mapping was performed in 32 patients with ARVC without history of cardiac arrest or sustained ventricular arrhythmias. Standard definitions of electroanatomic scars and fragmented, isolated, and very late potentials were used. All patients received an implantable cardioverter-defibrillator for the primary prevention of sudden death. Results After a mean follow-up of 25 ± 7 months, 12 (38%) patients received appropriate implantable cardioverter-defibrillator shock for sustained ventricular arrhythmias. With the exception of a higher rate of previous syncope ( P = .053), patients with arrhythmic events at follow-up did not differ from those who remained free from arrhythmic events in terms of other clinical variables, including cardiac magnetic resonance findings. Electroanatomic scars were present in all patients. The distribution and extent of electroanatomic scars were similar in the 2 groups (38 ± 25 cm 2 vs 33 ± 20 cm 2 ; P = .51). However, patients with implantable cardioverter-defibrillator shock had a higher prevalence of fragmented electrograms (92% vs 20%; P P = .004), and of very late potentials (67% vs 25%; P = .030). Fragmented electrograms were the only variable independently associated with arrhythmic events at follow-up (hazard ratio 21; P = .015). Conclusion The presence of fragmented and delayed electrograms within the scar predicts arrhythmic events in ARVC.

[Figure][1] [![Graphic][3] ][3][![Graphic][4] ][4] In August 2004, a 59-year-old woman received the diagnosis of idiopathic dilated cardiomyopathy on the basis of normal coronary angiography and magnetic resonance evidence of a hypokinetic, dilated, nonhypertrophic left

Background— The diagnostic reliability and pathophysiologic relevance of different noninvasive diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) are undefined. We tested the association between noninvasive diagnostic criteria for ARVC and the presence of low-voltage areas (LVAs) detected at electroanatomic voltage mapping (EAM). Methods and Results— Noninvasive diagnostic criteria, including ECG, signal-averaged ECG (SAECG), and cardiac magnetic resonance (CMR) criteria, were compared with the presence and location of LVAs detected at right ventricular (RV) EAM in 17 patients (9 men) aged 50±16 years with biopsy specimen-proven ARVC. LVAs were found in 15 (88%) patients. Patients with surface ECG abnormalities showed a higher degree of RV involvement than those without ECG abnormalities (number of LVAs, 1.8±0.5 versus 0.9±0.6, respectively; P P =0.03) but not between SAECG parameters and LVAs in other RV regions. Among CMR findings, RV delayed enhancement was more significantly associated with the distribution of LVAs (free wall, P P P =0.02). Regional RV dysfunction also showed a good correlation with LVAs, with the most significant association being found with the free wall ( P =0.01), whereas RV fat infiltration at CMR was not correlated with LVAs. Conclusion— In patients with ARVC, SAECG abnormalities correlate with the presence of LVAs selectively in the RV outflow tract, whereas surface ECG abnormalities are associated with a more diffuse RV involvement. Myocardial delayed enhancement is the CMR finding more strongly associated with LVAs, thus supporting the appropriateness of its inclusion among diagnostic criteria for ARVC.

In 2005, a 55-year-old man received the diagnosis of Fabry disease attributable to a Y216C (c647A>G) mutation.1 Heart, kidney, skin, and ocular involvement were documented, and enzyme replacement therapy (ERT) with agalsidase alfa (0.2 mg/kg every other week) was started and regularly administered for 6 years. Baseline cardiac evaluation included electrocardiography, 2-dimensional echocardiography, and cardiac magnetic resonance. During follow-up, acroparesthesias disappeared, and renal function maintained stable with mild proteinuria and normal plasma creatinine values, whereas cardiac involvement significantly worsened with a progressive increase of cardiac maximal wall thickness and mass (interventricular septum from 18 to 25 mm) and myocardial fibrosis as documented by electrocardiography and cardiac magnetic resonance (Figures 1 and …

We read with interest the new classification of cardiomyopathies proposed by the European Society of Cardiology (ESC) working group on myocardial and pericardial disease,1 which certainly represents a praiseworthy step towards a more clinically oriented classification system that overcomes some of the limitations of the recent American Heart Association classification. However, a controversial point concerning both classifications is represented by the inclusion of tachycardiomyopathy (TCMP) in the group of ‘primary cardiomyopathies’. The ESC classification define …

Background 3D echocardiography has recently revealed alterations of right ventricular (RV) function in Brugada syndrome (BrS) during ajmaline challenge (AC). Cardiac magnetic resonance (CMR) is the gold standard for functional and anatomical RV assessment. CMR feature-tracking (FT) analysis is able to detect subtle functional changes in the underlying myocardial substrate. Purpose To investigate RV functional changes during AC in BrS patients using CMR-FT analysis. Methods 24 consecutive BrS and 28 matched controls underwent CMR. CMR protocol included paraxial and parasagittal cine bSSFP sequences, acquired before and 2÷5 minutes after ajmaline infusion (1 mg/kg in 5 minutes), to obtain a comprehensive evaluation of the RV free wall. All patients were closely monitored with ECG. Semi-automatic threshold-based quantification of ventricular volumes, function and mass was performed in QMass. CMR-FT analysis of RV function was performed in QStrain. Values of longitudinal strain (LS) and transverse displacement (TD) of the RV wall before and after AC were compared in BrS patients and in the control group. Results AC induced Type 1 ECG pattern in all BrS patients and no ECG changes in controls. In BrS patients TD of the RV free wall was significantly reduced (P≤0.003) at peak ajmaline effect; controls reported sub-millimetric TD changes. LS of the RV wall was significantly impaired in BrS patients (P Conclusions In patients with BrS CMR-FT analysis during AC unveils dysfunctional RV wall mechanics in areas generally associated with abnormal electrical activity. TD and LS in a Brs patient post AC Funding Acknowledgement Type of funding source: None

superoxide production (lucigenin chemiluminescence) and expression levels of cardiac autophagic markers and signaling proteins (Western blot) and hypertrophic genes (real time-PCR) were analyzed. Fructose-fed mice exhibited normal plasma insulin, but were glucose intolerant and hyperglycaemic. In the absence of obesityand hypertension-induced loading influences, elevated superoxide production (fructose, 553± 28 counts/s/mg vs. control, 489± 11 counts/s/mg, p< 0.05) and suppression of the PI3K/Akt cell survival pathway (decreased pAkt:Akt and pS6:S6 protein expression ratio) were observed in hearts of fructose-fed mice. Fructose feeding induced cardiac autophagy activation (LC3B-II:LC3B-I protein expression ratio, 46%increase), suggestiveofmyocyte loss. The high fructose diet decreased gene expression of cardiacgrowthmarkers ( -MHC:71%decrease,p< 0.05; BNP: 58% decrease, p< 0.05) despite no change in whole heart weight. The present study demonstrates that insulin resistance and hyperglycemia is associated with suppressed myocardial cell survival signaling and activated cardiac autophagy.Thesefindingshave important implications for the characterization of diabetic cardiomyopathy and further work is required to elucidate the precisemechanisms involved. doi:10.1016/j.hlc.2010.06.759