Background—Dominant mutations in cellular junction proteins are the major cause of arrhythmogenic cardiomyopathy, whereas recessive mutations in those proteins cause cardiocutaneous syndromes such as Naxos and Carvajal syndrome. The Hutterites are distinct genetic isolates who settled in North America in 1874. Descended from <100 founders, they trace their origins to 16th-century Europe. Methods and Results—We clinically and genetically evaluated 2 large families of the Alberta Hutterite population with a history of sudden death and found several individuals with severe forms of biventricular cardiomyopathy characterized by mainly left-sided localized aneurysms, regions of wall thinning with segmental akinesis, in addition to typical electric and histological features known for arrhythmogenic right ventricular cardiomyopathy. We identified a homozygous truncation mutation, c.1660C>T (p.Q554X) in desmocollin-2 (DSC2), in affected individuals and determined a carrier frequency of this mutation of 9.4% (1 in 10.6) among 1535 Schmiedeleut Hutterites, suggesting a common founder in that subgroup. Immunohistochemistry of endomyocardial biopsy samples revealed altered expression of the truncated DSC2 protein at the intercalated discs but only minor changes in immunoreactivity of other desmosomal proteins. Recombinant expressed mutant DSC2 protein in cells confirmed a stable, partially processed truncated protein with cytoplasmic and membrane localization. Conclusions—A homozygous truncation mutation in DSC2 leads to a cardiac-restricted phenotype of an early onset biventricular arrhythmogenic cardiomyopathy. The truncated protein remains partially stable and localized at the intercalated discs. These data suggest that the processed DSC2 protein plays a role in maintaining desmosome integrity and function.

Purpose: To describe a new method to quantify the left atrial contraction contribution (ACC) to left ventricular (LV) filling using cardiovascular magnetic resonance (CMR). Materials and Methods: We assessed 120 normal subjects (50% female) using steady-state free precession CMR volumetry. Volumes measurements were performed using short axis and rotational long axis views. The percentage of ACC was calculated by dividing the LV filling volume resulting from left atrial (LA) contraction by the LV stroke volume (LVSV). Results: The described method was well reproducible. The ACC in normal subjects was 15 +/- 5% for ages <40 years, 28 +/- 8% for ages 40 to 55 years, and 38 +/- 5% for ages >55 years. When adjusted for age, ie, dividing the ACC percentage by age, a value between 0.4 and 0.7 was found to represent the normal range of ACC at any age. Conclusion: The study presents a new and accurate CMR volumetric method to quantify ACC to LV filling. ACC ranges from 10%40%, depending on age. J. Magn. Reson. Imaging 2013;37:860864. (c) 2012 Wiley Periodicals, Inc.

Contrast-enhanced cardiac magnetic resonance imaging (CMR) allows for a non-invasive assessment of the tissue composition using contrast-free (T2, e.g.STIR) and contrastenhanced techniques (early and late Gadolinium enhancement).Together with a functional assessment, it can be used to determine the acuity of e.g.inflammatory diseases and provide a non-invasive follow-up tool. CMR techniques usedFunctional imaging with high-resolution sequences such as SSFP cines allow to assess the whole left and right ventricles and calculate volumes, ejection fraction and mass.Myocardial wall stress can be calculated from these.Assessment of valvular function is needed and may require additional flow studies for the calculation of regurgitation fraction of aor t i c a n d m i t r a l v a l v e .A s s e s s m e n t o f t h e pericardium can be done on the functional images, too.T2-weighted images with fat suppression allow assessing myocardial water content, thus allowing to assess the stage of disease.To provide an "internal standard", skeletal muscle is used as control; an SI-ratio of more than 2.0 is considered abnormal.T1-weighted images allow to demonstrate acute inflammatory changes including increased extracellular volume and membrane integrity.As in T2-weighted imaging a skeletal muscle is used as "internal standard"; an enhancement -ratio (myocardial enhancement / muscle enhancement) of more than 4.0 is considered abnormal.The body-coil is used to obtain homogenous SI through the images, short axis or axial images are selected to optimize image quality.Newer sequences may improve image quality and allow for the use of multi-element coils.Late Gadolinium enhancement allows to non-invasively diagnose irreversible damage in the myocardium (e.g.fibrosis, infarcts).Due to the specific location in ischemic damages (starts at the subendocardial layer), it is easy to distinguish non-ischemic damages (as in myocarditis) from ischemic problems.Combining T2-information, early and late enhancement, CMR is able to safely assess the acuity and reversibility of the disease process in non-ischemic Cardiomyopathies and inflammatory processes (16).

Context Stress cardiomyopathy (SC) is a transient form of acute heart failure triggered by stressful events and associated with a distinctive left ventricular (LV) contraction pattern. Various aspects of its clinical profile have been described in small single-center populations, but larger, multicenter data sets have been lacking so far. Furthermore, it remains difficult to quickly establish diagnosis on admission. Objectives To comprehensively define the clinical spectrum and evolution of SC in a large population, including tissue characterization data from cardiovascular magnetic resonance (CMR) imaging; and to establish a set of CMR criteria suitable for diagnostic decision making in patients acutely presenting with suspected SC. Design, Setting, and Patients Prospective study conducted at 7 tertiary care centers in Europe and North America between January 2005 and October 2010 among 256 patients with SC assessed at the time of presentation as well as 1 to 6 months after the acute event. Main Outcome Measures Complete recovery of LV dysfunction. Results Eighty-one percent of patients (n = 207) were postmenopausal women, 8% (n = 20) were younger women (aged ≤50 years), and 11% (n = 29) were men. A stressful trigger could be identified in 182 patients (71%). Cardiovascular magnetic resonance imaging data (available for 239 patients [93%]) revealed 4 distinct patterns of regional ventricular ballooning: apical (n = 197 [82%]), biventricular (n = 81 [34%]), midventricular (n = 40 [17%]), and basal (n = 2 [1%]). Left ventricular ejection fraction was reduced (48% [SD, 11%]; 95% confidence interval [CI], 47%-50%) in all patients. Stress cardiomyopathy was accurately identified by CMR using specific criteria: a typical pattern of LV dysfunction, myocardial edema, absence of significant necrosis/fibrosis, and markers for myocardial inflammation. Follow-up CMR imaging showed complete normalization of LV ejection fraction (66% [SD, 7%]; 95% CI, 64%-68%) and inflammatory markers in the absence of significant fibrosis in all patients. Conclusions The clinical profile of SC is considerably broader than reported previously. Cardiovascular magnetic resonance imaging at the time of initial clinical presentation may provide relevant functional and tissue information that might aid in the establishment of the diagnosis of SC.

Perfusion-cardiovascular magnetic resonance (CMR) is generally accepted as an alternative to SPECT to assess myocardial ischemia non-invasively. However its performance vs gated-SPECT and in sub-populations is not fully established. The goal was to compare in a multicenter setting the diagnostic performance of perfusion-CMR and gated-SPECT for the detection of CAD in various populations using conventional x-ray coronary angiography (CXA) as the standard of reference.

AIMS:Late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) imaging can detect myocardial scar in patients with myocardial infarction. The detection of papillary muscle infarction (PMI) may be difficult due to the bright blood signal. The aim of our study was to evaluate the incremental value of LGE CMR imaging using an inversion recovery (IR)-GRE with a short-inversion time (TI) over standard LGE imaging in identifying PMI.METHODS AND RESULTS:Fifty-six patients with myocardial infarction were studied using a standard IR-GRE LGE sequence with an adjusted TI to null the signal intensity of normal myocardium and with a 3D IR-GRE with a short TI (<180 ms). Signal-to-noise and contrast-to-noise ratios (CNR) and the frequency of PMI were determined. Image quality and infarction sharpness were evaluated. The short-TI LGE sequence detected a higher number of PMI compared with standard LGE sequence (19/54 vs. 15/54) with an increased sharpness of PMI (84.2 vs. 53.3%). The CNR was higher between infarcted myocardium and blood (77.9 ± 60 vs. 19.3 ± 16, P < 0.001) and between PMI and blood (69.4 ± 51 vs. 39.4 ± 26, respectively, P = 0.0157).CONCLUSIONS:Our data indicate that in patients with myocardial infarction, LGE CMR imaging using a short TI may be more sensitive than standard LGE imaging for the detection of PMI.

Background Dilated cardiomyopathy (DCM) occurring due to an unknown etiology or genetic predisposition is termed as idiopathic dilated cardiomyopathy (iDCM), although iDCM may also result from viral exposure. However, the incidence of myocardial inflammation and its relation to left ventricular (LV) function in iDCM remains unknown. Cardiovascular magnetic resonance (CMR) imaging allows for the visualization of myocardial inflammation using early Gadolinium enhancement (EGE). We applied EGE imaging in the setting of clinically suspected iDCM to determine both the incidence and relation of myocardial inflammation to LV function.

In diesem Kapitel werden die Schritte und das Vorgehen bei der ganzheitlichen MTO-Analyse vorgestellt. Die MTO-Analyse setzt Untersuchungen auf den Ebenen des Unternehmens, der Organisationseinheit, der Gruppe und des Individuums voraus. Im Rahmen dieses Kapitels werden zunächst die 7 Schritte dieser Mehrebenen-Analyse bzgl. Analysegegenstand und Methodik kurz dargestellt. Daran anschliessend wird anhand eines Beispieles gezeigt, welche Arbeitsprozesse, Arbeitssysteme und Schlüsseltätigkeiten Gegenstand einer MTO-Analyse sind. Schliesslich werden unter Berücksichtigung von Erfahrungen mit diesem Vorgehen wichtige Merkpunkte für die Durchführung einer MTO-Analyse gegeben.

Background—A hypointense core of infarcted myocardium in T2-weighted cardiovascular MRI (CMR) has been used as a noninvasive marker for intramyocardial hemorrhage. However, the clinical significance of such findings not yet been established. The aim of this study was to evaluate determinants and prognostic impact of a hypointense infarct core in T2-weighted CMR images, studied in patients after acute, reperfused ST-elevation–myocardial infarction. Methods and Results—We analyzed 346 patients with ST-elevation–myocardial infarction undergoing primary angioplasty <12 hours after symptoms onset. T2-weighted, contrast-enhanced CMR was used for assessment of the area at risk, myocardial salvage, infarct size, hypointense core in T2-weighted images, and late microvascular obstruction. Patients were categorized into 2 groups defined by the presence or absence of a hypointense core. The primary end point of the study was occurrence of major adverse cardiovascular events defined as death, reinfarction, and congestive heart failure within 6 months after infarction. A hypointense core was present in 122 (35%) patients and was associated with larger infarcts, greater amount of microvascular obstruction, less myocardial salvage, and impaired left ventricular function (P<0.001, respectively). The presence of a hypointense core was a strong univariable predictor of major adverse cardiovascular events (hazard ratio, 2.59; confidence interval, 1.27 to 5.27) and was significantly associated with an increased major adverse cardiovascular events rate (16.4% versus 7.0%, P=0.006) 6 months after infarction. Conclusions—A hypointense infarct core within the area at risk of reperfused infarcted myocardium in T2-weighted CMR is closely related to infarct size, microvascular obstruction, and impaired left ventricular function, with subsequent adverse clinical outcome.

The purpose of the study was to compare the accuracy and evaluation time of quantifying left ventricular (LV), left atrial (LA) volume and LV mass using short axis (SAX) and long axis (LAX) methods when using cardiovascular magnetic resonance (CMR).

Methods We retrospectively evaluated the CMR scans of 294 patients referred for ARVC between 2005 and 2010 and determined the presence or absence of major and minor CMR criteria using the original and the revised TFC. Previously, major and minor abnormalities were identified by the presence of RV dilatation (global or segmental), RV micro-aneurysm, or regional hypokinesis. The revised criteria require the combination of severe regional wall motion abnormalities (akinesis or dyskinesis or dyssynchrony) with global RV dilatation or dysfunction (quantitative assessment). For defining RV dilatation, we used the same quantitative cut-off values for both, original and revised criteria.

The short TI LGE sequence detected a significant higher number of papillary muscle infarction compared to standard LGE sequence (19/54 versus 15/54 respectively). Moreover, in these images papillary muscle infarction was appeared with more sharpness (84.2% vs 53.3%) The contrast-to-noise ratio was higher between infarcted myocardium and blood (77.9±60 vs 19.3±16, p<0.001) and between papillary muscle infarction and blood (69.4±51 vs 39.4±26 respectively, p=0.0157). Conclusions In patients with myocardial infarction, LGE CMR imaging using short inversion times more sensitively detects papillary muscle infarction when compared with standard LGE imaging. Therefore, the additional use of short TI sequences may be useful for verifying or excluding papillary muscle involvement in patients with myocardial infarction.

Purpose: To compare T2-weighted cardiovascular magnetic resonance (CMR) imaging with AASPIR (asymmetric adiabatic spectral inversion recovery) and STIR (short T1 inversion recovery) for myocardial signal intensity, image quality, and fat suppression.Materials and Methods: Forty consecutive patients (47 +/- 16 years old) referred by cardiologists for CMR-based myocardial tissue characterization were scanned with both STIR and AASPIR T2-weighted imaging approaches. Signal intensity of left ventricular myocardium was normalized to a region of interest generating a signal-to-noise ratio (SNR). In six patients with regional edema on STIR the contrast-to-noise ratio (CNR) was assessed. Two independent observers used a scoring system to evaluate image quality and artifact suppression. Six healthy volunteers (three males, 32 +/- 7 years) were recruited to compare fat suppression between AASPIR and STIR.Results: SNR of AASPIR was greater than STIR for basal (128 +/- 44 vs. 83 +/- 40, P < 0.001), mid- (144 +/- 65 vs. 96 +/- 39, P < 0.01), and apical (145 +/- 59 vs. 105 +/- 35, P < 0.05) myocardium. Improved image quality and greater suppression of artifacts was demonstrated with AASPIR. In patients with regional edema. CNR increased by 49% with AASPIR, while SNR of pericardial fat did not differ (44 +/- 39 vs. 33 +/- 30, P > 0.05).Conclusion: Our findings support the implementation of an AASPIR-based approach for T2-weighted imaging due to improved pericardial fat suppression, image quality, and artifact suppression with greater CNR and SNR.

Background: Heterozygous mutations in desmosomal proteins have been shown to cause arrhythmogenic right ventricular cardiomyopathy (ARVC). The disease predominantly affects the right ventricle and ...

OBJECTIVES:The purpose of our study was to assess the impact of revised versus original criteria on the prevalence of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) criteria in cardiac magnetic resonance (CMR) studies. BACKGROUND:Recently, the ARVC/D task force criteria have been revised, aiming for a better diagnostic sensitivity. The implications of this revision on clinical decision making are unknown. METHODS:We retrospectively evaluated the CMR scans of 294 patients referred for ARVC/D between 2005 and 2010, and determined the presence or absence of major and minor CMR criteria using the original and the revised task force criteria. Previously, major and minor abnormalities were identified by the presence of right ventricle dilation (global or segmental), right ventricle microaneurysm, or regional hypokinesis. The revised criteria require the combination of severe regional wall motion abnormalities (akinesis or dyskinesis or dyssynchrony) with global right ventricle dilation or dysfunction (quantitative assessment). RESULTS:Applying the original criteria, 69 patients (23.5%) had major original criteria, versus 19 patients (6.5%) with the revised criteria. Forty-three patients (62.3%) with major original criteria did not meet any of the revised criteria. Using the original criteria, 172 patients (58.5%) had at least 1 minor criterion versus 12 patients (4%) with the revised task force criteria; 167 patients (97%) with minor original criteria did not meet any of the revised criteria. In the subgroup of 134 patients with complete diagnostic work-up of ARVC, 10 patients met the diagnosis of proven ARVC/D without counting imaging criteria. Only 4 of 10 met major criteria according to the revised CMR criteria; none met minor criteria. However, 112 of 124 patients without ARVC/D were correctly classified as negative by major and minor criteria (specificity 94% and 96%, respectively). CONCLUSIONS:In our experience, the revision of the ARVC/D task force imaging criteria significantly reduced the overall prevalence of major and minor criteria. The revision, although maintaining a high specificity, may not have improved the sensitivity for identifying patients with ARVC/D. Larger studies including follow-up are required.

Cardio-vascular magnetic resonance imaging (CMR) can be used to obtain integrated information on both cardiac function and on advanced tissue characteristics. Using contrast-enhanced techniques, highly diagnostic information on tissue viability, inflammatory changes, and on storage diseases can be obtained within a 45-minute examination. The combination of functional information (using steady-state free precession sequences cine techniques), assessment of myocardial edema (using T2-based techniques), of reversible injury (for example in inflammatory diseases; using T1-based techniques), and irreversible injury (for example in infarction and regional fibrosis, using late gadolinium enhancement techniques) allows disease-specific and prognostic information to be obtained in patients with non-ischemic cardiomyopathy. Contrast-enhanced CMR allows the accurate diagnosis of non-ischemic cardiomyopathies, identification of primary and secondary cardiomyopathies, and can be used to guide therapy, thus avoiding the need for invasive measures such as endomyocardial biopsy in many cases.