Background: Cardiac sarcoidosis (CS) predisposes to sudden cardiac death (SCD). Guidelines for implantable cardioverter defibrillators (ICDs) in CS have been issued by the Heart Rhythm Society in 2014 and the American College of Cardiology/American Heart Association/Heart Rhythm Society consortium in 2017. How well they discriminate high from low risk remains unknown. Methods: We analyzed the data of 398 patients with CS detected in Finland from 1988 through 2017. All had clinical cardiac manifestations. Histological diagnosis was myocardial in 193 patients (definite CS) and extracardiac in 205 (probable CS). Patients with and without Class I or IIa ICD indications at presentation were identified, and subsequent occurrences of SCD (fatal or aborted) and sustained ventricular tachycardia were recorded, as were ICD indications emerging first on follow-up. Results: Over a median of 4.8 years, 41 patients (10.3%) had fatal (n=8) or aborted (n=33) SCD, and 98 (24.6%) experienced SCD or sustained ventricular tachycardia as the first event. By the Heart Rhythm Society guideline, Class I or IIa ICD indications were present in 339 patients (85%) and absent in 59 (15%), of whom 264 (78%) and 30 (51%), respectively, received an ICD. Cumulative 5-year incidence of SCD was 10.7% (95% CI, 7.4%–15.4%) in patients with ICD indications versus 4.8% (95% CI, 1.2%–19.1%) in those without (χ 2 =1.834, P =0.176). The corresponding rates of SCD were 13.8% (95% CI, 9.1%–21.0%) versus 6.3% (95% CI, 0.7%–54.0%; χ 2 =0.814, P =0.367) in definite CS and 7.6% (95% CI, 3.8%–15.1%) versus 3.3% (95% CI, 0.5%–22.9%; χ 2 =0.680, P =0.410) in probable CS. In multivariable regression analysis, SCD was predicted by definite histological diagnosis ( P =0.033) but not by Class I or IIa ICD indications ( P =0.210). In patients without ICD indications at presentation, 5-year incidence of SCD, sustained ventricular tachycardia, and emerging Class I or IIa indications was 53% (95% CI, 40%–71%). By the American College of Cardiology/American Heart Association/Heart Rhythm Society guideline, all patients with complete data (n=245) had Class I or IIa indications for ICD implantation. Conclusions: Current ICD guidelines fail to distinguish a truly low-risk group of patients with clinically manifest CS, the 5-year risk of SCD approaching 5% despite absent ICD indications. Further research is needed on prognostic factors, including the role of diagnostic histology. Meanwhile, all patients with CS presenting with clinical cardiac manifestations should be considered for an ICD implantation.

BackgroundAutosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy. We aimed to define the distinct characteristics of PRKAG2 using cardiovascular magnetic resonance (CMR).MethodsCMR (1.5 T) and genetic testing were performed in two families harboring PRKAG2 mutations. On CMR, segmental analysis of left ventricular (LV) hypertrophy (LVH), function, native T1 mapping, and late gadolinium enhancement (LGE) were performed.ResultsSix individuals (median age 23 years, range 16–48; two females) had a PRKAG2 mutation: five with an R302Q mutation (family 1), and one with a novel H344P mutation (family 2). Three of six mutation carriers had LV mass above age and gender limits (203 g/m2, 157 g/m2 and 68 g/m2) and others (with R302Q mutation) normal LV masses. All mutation carriers had LVH in at least one segment, with the median maximal wall thickness of 13 mm (range 11–37 mm). Two R302Q mutation carriers with markedly increased LV mass (203 g/m2 and 157 g/m2) showed a diffuse pattern of hypertrophy but predominantly in the interventricular septum, while other mutation carriers exhibited a non-symmetric mid-infero-lateral pattern of hypertrophy. In family 1, the mutation negative male had a mean T1 value of 963 ms, three males with the R302Q mutation, LVH and no LGE a mean value of 918 ± 11 ms, and the oldest male with the R302Q mutation, extensive hypertrophy and LGE a mean value of 973 ms. Of six mutations carriers, two with advanced disease had LGE with 11 and 22 % enhancement of total LV volume.ConclusionsPRKAG2 cardiac syndrome may present with eccentric distribution of LVH, involving focal mid-infero-lateral pattern in the early disease stage, and more diffuse pattern but focusing on interventricular septum in advanced cases. In patients at earlier stages of disease, without LGE, T1 values may be reduced, while in the advanced disease stage T1 mapping may result in higher values caused by fibrosis. CMR is a valuable tool in detecting diffuse and focal myocardial abnormalities in PRKAG2 cardiomyopathy.

BackgroundSuspected nonischemic cardiomyopathy (NICM) is a common clinical setting with highly variable prognosis. Early noninvasive risk-stratification is important for justification of invasive examinations, specific treatment and patient surveillance. We studied the additional prognostic value of late gadolinium enhancement (LGE) and segmental wall motion abnormality (SWMA) extent on cardiovascular magnetic resonance (CMR) compared to traditional risk factors in suspected NICM.MethodsIn this observational cohort study, we enrolled 86 consecutive patients referred for CMR due to suspected NICM. Patients with ischemic cardiomyopathy were excluded. CMR images were analysed for left ventricular LGE and SWMA extents and patients were followed-up for major adverse cardiac events (MACE), including cardiovascular death, aborted sudden death and cardiac transplantation.ResultsOf 86 patients (median age: 53 years, 45% female), mainly presenting with ventricular arrhythmias (40%) and congestive heart failure (44%), 76% were finally diagnosed with NICM, 17% with left ventricle hypertrophy and 7% with idiopathic arrhythmia. On CMR, 61 patients (71%) had LGE and 56 (65%) SWMA. During median follow-up of 835 days, 15 patients (17%) reached MACE. In univariant analysis, LGE volume (hazard ratio [HR] 1.028 per 1% increase in LGE, p < 0.001), left ventricular ejection fraction (LVEF) (HR 0.959, p = 0.009) and SWMA score (HR 1.067, p = 0.012) had strongest associations with MACE. In multivariate analysis, the best overall model for event prediction included LGE volume (HR 1.027, p = 0.003), sustained ventricular tachycardia (HR 4.7, p = 0.011) and LVEF (HR 0.962, p = 0.034). Among patients with LGE, there was an event rate of 26% (14 of 61) versus 4% (1 of 25) in patients without LGE (p = 0.041, Log-rank). The highest event rate was observed in patients with LGE volume of ≥17%. Patients without SWMA did not experience MACE (p = 0.002, Log-rank), giving additional information in the subgroup of patients with preserved LVEF (≥50%).ConclusionsIn suspected NICM, presenting with ventricular arrhythmias or heart failure, LGE extent gives additional prognostic information compared to traditional risk factors, while the absence of SWMA may give prognostic information beyond normal LVEF. Even though the final diagnosis is uncertain in NICM, extensive amount of LGE should be considered as a sign of poor prognosis.

Background Ischemic stroke in young individuals often remains cryptogenic. Some of these strokes likely originate from the heart, and atrial fibrosis might be one of the etiological mechanisms. In this pilot study, we investigated whether advanced echocardiography findings of the left atrium ( LA ) of young cryptogenic stroke patients differ from those of stroke‐free controls. Methods and Results We recruited 30 cryptogenic ischemic stroke patients aged 18 to 49 years and 30 age‐ and sex‐matched stroke‐free controls among participants of the SECRETO (Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome) study ( NCT 01934725). We measured basic left ventricular parameters and detailed measures of the LA , including 4‐dimensional volumetry, speckle tracking epsilon, strain rate, and LA appendix orifice variation. Data were compared as continuous parameters and by tertiles. Compared with controls, stroke patients had smaller LA reservoir volumes (10.2 [interquartile range, 5.4] versus 13.2 [5.4] mL ; P =0.030) and smaller positive epsilon values (17.8 [8.5] versus 20.8 [10.1]; P =0.023). In the tertile analysis, stroke patients had significantly lower left atrial appendage orifice variation (3.88 [0.75] versus 4.35 [0.90] mm; P =0.043), lower LA cyclic volume change (9.2 [2.8] versus 12.8 [3.5] mL ; P =0.023), and lower LA contraction peak strain rate (−1.8 [0.6] versus −2.3 [0.6]; P =0.021). We found no statistically significant differences in left ventricular measures. Conclusions This preliminary comparison suggests altered LA dynamics in young patients with cryptogenic ischemic stroke, and thus that LA wall pathology might contribute to these strokes. Our results await confirmation in a larger sample.