Prognostic implications of genotype findings in non-ischaemic dilated cardiomyopathy: A network meta-analysis.

AIMS: Evidence on the relative impact of diverse genetic backgrounds associated with non-ischaemic dilated cardiomyopathy (DCM) remains contradictory. This study sought to synthesize the available data regarding long-term outcomes of different gene groups in DCM. METHODS AND RESULTS: Electronic databases were systematically screened to identify studies reporting prognostic data on pre-specified gene groups. Those included pathogenic/likely pathogenic (P/LP) variants, truncating titin variants (TTNtv), lamin A/C variants (LMNA), and desmosomal proteins. Outcomes were divided into composite adverse events (CAEs), malignant ventricular arrhythmic events (MVAEs) and heart failure events (HFEs). A total of 26 studies (n = 7255) were included in the meta-analysis and 6791 patients with genotyped DCM were analysed. Patients with P/LP variants had a higher risk for CAEs (odds ratio [OR] 2.10, 95% confidence interval [CI] 1.67-2.65), MVAEs (OR 1.86, 95% CI 1.52-2.26), and HFEs (OR 2.01, 95% CI 1.08-3.73) than genotype-negative patients. The presence of TTNtv was linked to a higher risk for CAEs (OR 1.78, 95% CI 1.20-2.63), but not MVAEs or HFEs. LMNA and desmosomal groups suffered a higher risk for CAEs, MVAEs, and HFEs compared to non-LMNA and non-desmosomal groups, respectively. When genes were indirectly compared, the presence of LMNA resulted in a more detrimental effect that TTNtv, with respect to all composite outcomes but no significant difference was found between LMNA and desmosomal genes. Desmosomal genes harboured a higher risk for MVAEs compared to TTNtv. CONCLUSIONS: Different genetic substrates associated with DCM result in divergent natural histories. Routine utilization of genetic testing should be employed to refine risk stratification and inform therapeutic strategies in DCM.

The Importance of Out-of-Office Blood Pressure Measurement, as Highlighted by the Correlation with Left Ventricular Hypertrophy in an Untreated Hypertensive Population.

Background and Objectives: Hypertensive heart disease, especially left ventricular hypertrophy (LVH), is considered to be one of the main types hypertension-mediated organ damage. Hence, the purpose of this study was to examine which method of measuring BP (office BP measurement (OBPM), 24 h ambulatory BP monitoring (ABPM), or home BP monitoring (HBPM)), can be better correlated with echocardiographic LVH in the untreated hypertensive population. Materials and Methods: This study's population consisted of 202 patients 58 ± 15 years old (40.8% males). All patients reported elevated home BP measurements for at least 3 months, but they had never been treated before for hypertension. Office and out-of-office BP measurements, including ABPM on a usual working day and seven-day HBPM, as well as 2D echocardiography, were performed. Results: In the univariate analysis, LVH was associated (p < 0.05) with a mean 24 h systolic BP (OR: 1.93, CI: 1.29-2.91), a mean 24 h diastolic BP (OR: 1.30, CI: 1.16-1.80), ambulatory daytime systolic (OR: 1.11, CI:1.01-1.82) and diastolic BP (OR: 1.13, CI:1.09-1.17), ambulatory nighttime systolic BP (OR: 2.11, CI: 1.04-4.31), and mean home systolic BP (OR: 1.05, CI:1.01-1.12). Pearson's correlation analysis showed a significant correlation between the LV mass index and the mean 24 h systolic BP (r = 0.58, p < 0.05), daytime systolic BP (r = 0.59, p < 0.05), and nighttime systolic BP (r = 0.57, p < 0.05). Most of the population with confirmed LVH presented confirmed hypertension (based on ABPM, 48.1% or HBPM, 40%). The second most dominant phenotype was masked hypertension (ABPM, 32.7% and HBPM, 23.7%). The majority (59.3%) had non-dipping status, 20.4% had a reverse dipping pattern, 13% had a dipping pattern, and only 7.3% had extreme dipping BP. Conclusions: Out-of-office BP measurement devices seemed to be superior compared to in-office. This advantage is highlighted by better correlations in the identification of LVH as well as the diagnosis of masked hypertension, a condition also highly correlated with LVH.

Spleen visualization in both TTR and AL amyloidosis during 99mTc-DPD scintigraphy. Do we have to deal with a different than the myocardial uptake mechanism?

Technetium-99m- diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) is currently used in Europe for the diagnosis of cardiac amyloidosis, being able to distinguish light chain (AL) from transthyretin (TTR) type. We are reporting obvious spleen visualization in two patients suffering the first from proven TTR and the second from AL type of cardiac amyloidosis, with myocardial uptake-as anticipated-only in the first one. We raise the hypothesis that a common uptake mechanism exists for the spleen amyloid regardless of the type of the disease (AL or TTR), and is possibly different than the cardiac uptake mechanism.

Apical Hypertrophic Cardiomyopathy: Diagnosis, Natural History, and Management.

Apical hypertrophic cardiomyopathy (ApHCM) represents a rare variant of hypertrophic cardiomyopathy (HCM) with distinct phenotypic characteristics. The prevalence of this variant varies according to each study's geographic region. The leading imaging modality for the diagnosis of ApHCM is echocardiography. Cardiac magnetic resonance, however, is the gold standard for ApHCM diagnosis in case of poor acoustic windows or equivocal echocardiographic findings but also in cases of suspected apical aneurysms. The prognosis of ApHCM was reported to be relatively benign, although more recent studies seem to contradict this, demonstrating similar incidence of adverse events compared with the general HCM population. The aim of this review is to summarize the available evidence for the diagnosis of ApHCM, highlight distinctions in comparison to more frequent forms of HCM with regards to its natural history, prognosis, and management strategies.

Left Atrial Myopathy is Associated With Exercise Incapacity and Ventilatory Inefficiency in Hypertrophic Cardiomyopathy.

BACKGROUND: Left atrial (LA) myopathy is an established component of hypertrophic cardiomyopathy (HCM); however, the data about its association with exercise incapacity or ventilatory inefficiency that may be seen in HCM patients are limited. This study aimed to explore the association between LA myopathy, evaluated by echocardiography LA strain, and exercise capacity and ventilatory efficiency, evaluated by cardiopulmonary exercise testing (CPET), in HCM patients. METHODS: This study included 241 consecutive HCM patients (aged 51.2±15.7 years 67.2% male) in sinus rhythm who underwent CPET and transthoracic echocardiography at the same visit. Exercise incapacity (maximal/predicted oxygen consumption [%peakVO2] <80%) and ventilatory inefficiency (ventilation/carbon dioxide output [VE/VCO2] slope >34) were assessed by CPET. Left atrial myopathy was examined by speckle-tracking myocardial deformation parameters: LA reservoir, conduit and booster strain. RESULTS: All three LA strain values were univariate predictors of exercise capacity and ventilatory efficiency. Among them, LA reservoir strain had the higher r correlation coefficient for predicting both %peakVO2 and VE/VCO2 slope. Left atrial reservoir strain, presence of angina and family history of HCM were independent predictors of exercise capacity. Left atrial reservoir strain, male gender and non-sustained ventricular tachycardia were independent predictors of ventilatory efficiency. Left atrial reservoir strain was a significant predictor of %peakVO2<80% with an optimal cut-off value of 27% (sensitivity 87% and specificity 31%) and VE/VCO2>34 with an optimal cut-off value of 18% (sensitivity 71% and specificity 83%). CONCLUSION: Left atrial myopathy, as reflected by the LA strain values, was associated with exercise incapacity and ventilatory inefficiency in HCM individuals. Left atrial reservoir strain was the only common independent predictor of %peakVO2 and VE/VCO2 slope.

Validation of the new American College of Cardiology/American Heart Association Guidelines for the risk stratification of sudden cardiac death in a large Mediterranean cohort with Hypertrophic Cardiomyopathy.

BACKGROUND: The aim of our study was to assess the performance of the new American College of Cardiology (ACC)/American Heart Association (AHA) Guidelines, with respect to sudden cardiac death (SCD) prevention, in comparison with the established risk score of the European Society of Cardiology (hypertrophic cardiomyopathy [HCM] Risk-SCD), in a large Mediterranean cohort of HCM patients. METHODS: The clinical and imaging characteristics of 784 HCM patients (mean age at first evaluation 52 ± 16 years, 67.2% males) were analyzed retrospectively. The sensitivity, specificity, and negative predictive value for SCD events of the presence of ≥1 risk factor for SCD according to the ACC/AHA Guidelines 2020 and of the HCM Risk-SCD≥6% and HCM Risk-SCD≥4% were estimated during follow-up. RESULTS: During follow-up, 47 (6%) patients suffered an SCD event. The presence of ≥1 major risk factor for SCD according to the new ACC/AHA Guidelines had 96% sensitivity (95% CI 85.5-99.5%) with modest specificity of 59% (95% CI 55-62.2%) and negative predictive value of 99.5% (95% CI 98.2-99.9%). On the contrary, HCM- Risk-SCD≥6% had a relatively low sensitivity (32%, 95% CI 19.1-47.1%) and high specificity of 95% (95% CI 93.1-96.4%), whereas, HCM-Risk-SCD≥4% had sensitivity of 60% (95% CI 44-74%) and specificity of 83.9% (95% CI 80-85.6%). Both the HCM Risk-SCD cut-off values demonstrated lower negative predictive value but higher accuracy than the ACC/AHA algorithm for SCD prediction. CONCLUSION: The novel ACC/AHA proposed algorithm identifies most of the patients with an SCD event with the cost of numerous defibrillator implantations. HCM-Risk-SCD demonstrated higher specificity, whereas its sensitivity and negative predictive value are modest.