Progression of electrocardiogram changes in an untreated fabry disease: a case report.

BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disorder with multiorgan manifestation and associated with an increased morbidity and mortality. Fabry cardiomyopathy includes left ventricular 'hypertrophy' (LVH), cardiac arrhythmias, and heart failure. We report a case of an untreated FD with characteristic findings in electrocardiogram (ECG) over a follow-up period of 10 years. CASE SUMMARY: A 53-year-old man with FD presented to our outpatient department. He suffered from symptomatic ventricular extrasystoles. Echocardiography detected LVH and reduced global longitudinal strain. Twelve years ago, first examination was conducted due to ventricular arrhythmias. Electrocardiogram showed a short PQ minus P-wave (PendQ) interval and negative T-waves. Over time, the number of leads with negative T-waves increased. Moreover, the echocardiography revealed a thickened left ventricular wall. Without any further examinations at that time, the patient was treated for arterial hypertension with proteinuria. Ten years after first symptoms appeared, FD was diagnosed utilizing cardiac magnetic resonance imaging and genetic tests. Hence, enzyme replacement therapy was initiated. DISCUSSION: The ECG is a fast diagnostic method and it may - even without additional organ manifestations - provide preliminary suspicion of FD. In particular, as shown in our case, a short PendQ and QT interval indicate FD. Over time, disease progression can be detected through ECG changes. T-waves correlate with an increasing LVH and a reduction in longitudinal function in echocardiographic examinations. Unexplained LVH must be followed by differential diagnosis. In case of confirmed FD, patients should be treated by multidisciplinary teams in experienced centres.

Z-score mapping for standardized analysis and reporting of cardiovascular magnetic resonance modified Look-Locker inversion recovery (MOLLI) T1 data: Normal behavior and validation in patients with amyloidosis.

BACKGROUND: T1 mapping using modified Look-Locker inversion recovery (MOLLI) provides quantitative information on myocardial tissue composition. T1 results differ between sites due to variations in hardware and software equipment, limiting the comparability of results. The aim was to test if Z-scores can be used to compare the results of MOLLI T1 mapping from different cardiovascular magnetic resonance (CMR) platforms. METHODS: First, healthy subjects (n = 15) underwent 11 combinations of native short-axis T1 mapping (four CMR systems from two manufacturers at 1.5 T and 3 T, three MOLLI schemes). Mean and standard deviation (SD) of septal myocardial T1 were derived for each combination. T1 maps were transformed into Z-score maps based on mean and SD values using a prototype post-processing module. Second, Z-score mapping was applied to a validation sample of patients with cardiac amyloidosis at 1.5 T (n = 25) or 3 T (n = 13). RESULTS: In conventional T1 analysis, results were confounded by variations in field strength, MOLLI scheme, and manufacturer-specific system characteristics. Z-score-based analysis yielded consistent results without significant differences between any two of the combinations in part 1 of the study. In the validation sample, Z-score mapping differentiated between patients with cardiac amyloidosis and healthy subjects with the same diagnostic accuracy as standard T1 analysis regardless of field strength. CONCLUSIONS: T1 analysis based on Z-score mapping provides consistent results without significant differences due to field strengths, CMR systems, or MOLLI variants, and detects cardiac amyloidosis with the same diagnostic accuracy as conventional T1 analysis. Z-score mapping provides a means to compare native T1 results acquired with MOLLI across different CMR platforms.

Fully automatic segmentation of left ventricular anatomy in 3-D LGE-MRI.

The current challenge for electrophysiology procedures, targeting the left ventricle, is the localization and qualification of myocardial scar. Late gadolinium enhanced magnetic resonance imaging (LGE-MRI) is the current gold standard to visualize regions of myocardial infarction. Commonly, a stack of 2-D images is acquired of the left ventricle in short-axis orientation. Recently, 3-D LGE-MRI methods were proposed that continuously cover the whole heart with a high resolution within a single acquisition. The acquisition promises an accurate quantification of the myocardium to the extent of myocardial scarring. The major challenge arises in the analysis of the resulting images, as the accurate segmentation of the myocardium is a requirement for a precise scar tissue quantification. In this work, we propose a novel approach for fully automatic left ventricle segmentation in 3-D whole-heart LGE-MRI, to address this limitation. First, a two-step registration is performed to initialize the left ventricle. In the next step, the principal components are computed and a pseudo short axis view of the left ventricle is estimated. The refinement of the endocardium and epicardium is performed in polar space. Prior knowledge for shape and inter-slice smoothness is used during segmentation. The proposed method was evaluated on 30 clinical 3-D LGE-MRI datasets from individual patients obtained at two different clinical sites and were compared to gold standard segmentations of two clinical experts. This comparison resulted in a Dice coefficient of 0.83 for the endocardium and 0.80 for the epicardium.

The use of cardiovascular magnetic resonance in acute myocardial infarction.

Acute myocardial infarction (MI) results in reversible and irreversible injury to the myocardium, including stunning, edema, myocyte necrosis, and microvascular obstruction. Because of its unique tissue characterization capabilities, cardiovascular magnetic resonance provides a reliable means of visualizing and quantifying the extent of these injuries. Such characterization is readily achieved through a comprehensive examination including function, first-pass perfusion, T2 (edema), and late enhancement imaging sequences. This helps to predict the prognosis, assess the success of reperfusion, detect acute phase complications, localize the area of the acute event, and confirm the diagnosis in clinical scenarios with clinical presentations similar to that of acute MI. Finally, one emerging application is the role cardiovascular magnetic resonance (CMR) may play in detecting some infarcts very early on in their evolution. This article covers the established and emerging clinical applications of CMR in the settings of reperfused and nonreperfused infarcts and in acute myocardial ischemia, the step immediately preceding actual irreversible injury.