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Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy (DMD). We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in DMD. We studied 90 genetically proven DMD patients from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function. Prognostic value was assessed in terms of cardiac events and mortality. The median age was 27.5 years and median forced vital capacity (FVC) was at 10% of the predicted value: 83 patients (92%) were on home mechanical ventilation. A RV systolic dysfunction was found in 46 patients (51%). RV systolic dysfunction was significantly associated with cardiac events, mainly acute heart failure (62%) and cardiogenic shock (23%). In a multivariable Cox model, the adjusted hazard-ratio (adj.HR) was 4.96 (95% confidence interval = 1.09–22.6, P = 0.04). In terms of mortality, we found a significant difference between patients with RV systolic dysfunction vs. patients without RV systolic dysfunction (log-rank P = 0.045). RV systolic dysfunction is frequently present in DMD patients and may be associated with long-term poor prognosis, irrespective of left ventricular dysfunction and mechanical ventilation. [ABSTRACT FROM AUTHOR]

Prognostic assessment of pulmonary embolism (PE) by transthoracic echocardiography (TTE) and CT-scan has been proposed in patients with intermediate risk according to the ESC guidelines. The aim of this study is to assess the accuracy of this multimodality imaging strategy in routine practice. We reviewed from our database all consecutive patients hospitalized for acute PE between July 2011 and June 2019. Right ventricular (RV) size/dysfunction was systematically assessed by TTE and CT-scan in patients classified as intermediate risk (defined as a sPESI score ≥ 1) and was defined as RV/LV ratio ≥ 1. In-hospital outcome was systematically assessed and was compared according to the classification of PE severity and the combined use of TTE and CT-scan and the separated use of these 2 imaging modalities. We studied 708 patients (49.5% female, median age 68 years) presenting with acute PE. 50 patients (7%) had shock or hypotension on arrival, meeting the criteria for high-risk PE with an in-hospital mortality of 38%. Among the 658 patients without high-risk PE, 336 patients had a sPESI score ≥ 1 and were considered as intermediate risk PE. TTE classified 124 patients as intermediate–high risk PE versus 132 patients by CT-scan, 165 patients by TTE or CT-scan and 91 patients by both TTE and CT-scan. In intermediate-high risk PE (RV dysfunction), in-hospital mortality was 11.3% using TTE alone, 9.8% using CT-scan alone, 9.1% with positive TTE or CT-scan and 13.2% using TTE and CT-scan (P = 0.75). In-hospital mortality was 5.6% in intermediate-low risk PE and 0.6% in low risk PE (sPESI = 0). In intermediate-high risk PE, the accuracy of combined TTE and CT-scan or TTE or CT-scan used alone is similar for the assessment of PE prognosis. [ABSTRACT FROM AUTHOR]

Over the past decade, neighborhood deprivation suggested to play a significant role in the repartition of cardiovascular risk factors. We assessed the effect of neighborhood socioeconomic position on the main cardiovascular risk factors in a French urban population with a comprehensive and multidimensional indicator. Between 2010 and 2018, we studied cardiovascular risk factors in 7821 participants residing in Paris west suburb (CARVAR 92 cohort). Three neighborhood clusters of decreasing socioeconomic status were obtained after a hierarchical clustering analysis applied to eighteen measures of socioeconomic status. We used multivariate logistic models to estimate the association between neighborhood clusters and risk factors. Medium and low socioeconomic status were associated with higher risk of diabetes (OR = 1.63; 95%CI 1.23-2.15, OR = 3.28 95%CI 2.49-4.31, respectively) and obesity (OR = 1.42; 95%CI 1.23-1.64, OR = 2.23; 95%CI 1.92-2.58, respectively). High blood pressure and smoking intensity were also significantly associated with the most deprived neighborhoods (OR = 1.42; 95%CI 1.20-1.68, OR = 1.66; 95%CI 1.24-2.22, respectively) (Fig. 1). Higher odds of diabetes and obesity were observed among the subgroup of females, especially in the lowest socioeconomic status neighborhoods (OR 3.85 95%CI 2.47-5.98, OR 2.55 95%CI 2.10-3.09, respectively), compared to those of males (OR = 2.81 95%CI 2.07-3.80, OR = 1.81 95%CI 1.43-2.30) (Table 1). Even in a country owning universal welfare coverage such as France, neighborhoods socioeconomic status is still nowadays strongly associated with an uneven distribution of cardiovascular risk factors. Most affected risks factors are diabetes and obesity. Furthermore, deprivation seems to have a stronger negative effect on women. [ABSTRACT FROM AUTHOR]

Hypertrophic cardiomyopathy (HCM) is a genetic disease with delayed cardiac expression. Family screening strategy includes cardiac screening that may be guided by predictive genetic testing (PGT). However, little is known about the impact of PGT and the risk factors present at the very early stage of the disease. Our study aims to evaluate the impact of predictive genetic testing on the rate of initiation of cardiac screening, to estimate the penetrance of HCM and to determine the frequency of risk factors (RF) for sudden cardiac death in individuals at preclinical stage without HCM. We studied 60 consecutive relatives in a single center (31 women and 29 men, mean age: 34 ± 16.3 years) without history of HCM before genetic testing and who were mutation carriers after PGT. Cardiac screening was initiated before PGT in only 37%, and was started after PGT in 63%. Echocardiographic criteria for HCM were observed in 17% (28% of men but 6% of women, 17% of MYH7 mutation carriers but 0% in MYBPC3 carriers). Among mutation carriers without hypertrophy (n = 50), 1 had non-sustained ventricular tachycardia, 2 had non-explained syncope and 5 presented with family history of sudden death. In addition, 14% had dilated left atrium, 2% a high risk mutation and 8% practiced intense physical activity. Moreover, 10% (2/21) of carriers who performed MRI had cardiac fibrosis and 3% (1/32) of carriers who performed Holter monitoring had significant premature ventricular beat (PVB > 240/day). The assessment of HCM causal mutations in relatives seems to be an important step to initiate cardiac screening. The penetrance of HCM seems to be higher in the male population and in MYH7 rather than in other genes mutation carriers. Mutations carriers at a preclinical stage without hypertrophy may have individual risk factors of sudden cardiac death. Further study of a larger population may be useful to confirm these results. [ABSTRACT FROM AUTHOR]

Dilated cardiomyopathy (DCM) is a major cause of systolic heart failure and therefore a major public health issue. Our objective was to better understand the genetic bases of dilated cardiomyopathy. We conducted a 1000G based genome-wide association study for 9,152,885 SNPs on 2,719 sporadic DCM cases and 4,440 controls of European origin followed by a replication step. We then sought for the most likely culprit genes at the new replicated loci through a dedicated strategy including in silico data mining (including tissue specific gene expressions, expression and methylation quantitative trait loci) as well as functional 4C-sequencing analysis on iPSC-derived cardiomyocytes (Fig. 1). We identified two new DCM loci, on chromosome 3p25.1 (lead SNP rs62232870, p = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively) and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3, respectively), while confirming two previously identified ones, BAG3 and HSPB7. A Genetic Risk Score was built from the number of risk allele at these four loci and revealed a 27% increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). At chr3p25, our selection strategy pinpointed SLC6A6 as the most likely culprit gene. SLC6A6 encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, the same strategy strongly suggested SMARCB1 as the best candidate gene. This study provides new insights in the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure, with the potential for a therapeutic perspective especially through taurine modulation. [ABSTRACT FROM AUTHOR]

Prognostic assessment of pulmonary embolism (PE) by transthoracic echocardiography (TTE) and CT-scan has been proposed in patients with intermediate risk according to the ESC guidelines. The aim of this study is to assess the accuracy of this multimodality imaging strategy in routine practice. We reviewed from our database all consecutive patients hospitalized for acute PE between July 2011 and June 2019. Right ventricular (RV) size/dysfunction was systematically assessed by TTE and CT-scan in patients classified as intermediate risk (defined as a sPESI score ≥ 1) and was defined as RV/LV ratio ≥ 1. In-hospital outcome was systematically assessed and was compared according to the classification of PE severity and the combined use of TTE and CT-scan and the separated use of these 2 imaging modalities. We studied 708 patients (49.5% female, median age 68 years) presenting with acute PE. Fifty patients (7%) had shock or hypotension on arrival, meeting the criteria for high-risk PE with an in-hospital mortality of 38%. Among the 658 patients without high-risk PE, 336 patients had a sPESI score ≥ 1 and were considered as intermediate risk PE. TTE classified 124 patients as intermediate–high-risk PE versus 132 patients by CT-scan, 165 patients by TTE or CT-scan and 91 patients by both TTE and CT-scan. In intermediate–high-risk PE (RV dysfunction), in-hospital mortality was 11.3% using TTE alone, 9.8% using CT-scan alone, 9.1% with positive TTE or CT-scan and 13.2% using TTE and CT-scan (P = 0.75). In-hospital mortality was 5.6% in intermediate-low risk PE and 0.6% in low risk PE (sPESI = 0). In intermediate–high-risk PE, the accuracy of combined TTE and CT-scan or TTE or CT-scan used alone is similar for the assessment of PE prognosis. [ABSTRACT FROM AUTHOR]

Physical activity confers important cardiovascular health benefits although intensive exercise may increase the cardiac arrest risk. With the increasing tennis popularity, its practice may be considered at risk but this association remains unclear. To estimate the incidence of tennis-related cardiac arrests and measure its proportion among all sports-related cardiac arrests. An electronic search of several databases was conducted (from 1948 to April 29, 2019) for studies having analyzed cardiac arrest during tennis practice. Two independent reviewers selected and extracted data from eligible studies. Using a random-effects model, annual incidence rate per million individuals and 95% CIs were calculated as well as the proportion of tennis-related cardiac arrests among all sports-related cardiac arrests. Heterogeneity among studies was evaluated with the I2 statistics and publication biais with the Egger's test P -value. WE included 8 studies from 3 continents involving 3885 cardiac arrests during sports of which 56 tennis-related cardiac arrests. Inter-rater agreements were very high (kappa = 0,88 for the first selection step from title and abstract and kappa = 1 for the second selection step from entire article). The annual incidence rate of tennis-related cardiac arrests was 0.044 per million [0.021–0.068], P < 10−3 (N studies = 8, I2 = 0%, Egger's test P -value < 10−4). This incidence varied from 0.035 [0–0.070] among young competitive athletes in both sexes to 0.046 [0–0.092] in elderly men during recreational tennis practice. The proportion of tennis-related cardiac arrests among all sports-related cardiac arrests was 1.8% [0.8%–2.9%], P = 0.001 (N studies = 7) (Fig. 1). Tennis-related cardiac arrest incidence is very small worlwide and its proportion is very low among all sports-related cardiac arrests. Thus, these results highlight the health benefits of the tennis among the general population with a low-risk of cardiac arrest. [ABSTRACT FROM AUTHOR]

Hypertrophic cardiomyopathy (HCM) has a sarcomeric origin in more than half of cases. Correlations between a mutation presence and the clinical, electrical and echocardiographic phenotype are not clearly characterised. To determine the link for HCM patients between the genotype/phenotype, and the impact of a found mutation. We studied a group of 104 patients with a HCM diagnosis (average age: 56 ± 15 years). Clinical, echocardiographic, electrocardiographic as well as genetic data were evaluated and compared. Genotype-positive patients were more likely to be younger (50,9 ± 17.5 years versus 39,9 ± 17.6, P < 0.01), more often women (56% versus 27%, P < 0.01), had more family history of hypertrophic cardiomyopathy (51% versus 18%, P < 0.001) and an increased incidence of sudden death (2,99 ± 2,83 versus 1,97 ± 1,2, P = 0.03). Echocardiographically, they were less often obstructive (P < 0.01) and had a reduced left ventricular ejection function (P = 0.02). Electrically, there was no difference in left ventricular hypertrophy ECG variables or in repolarization problems between the two groups. Genotype-phenotype link for HCM patients is low and both the ECG and the echocardiography are not relevant. The presence of a mutation is associated with an increased risk of sudden death. Genetic testing for HCM patients remains essential considering the impact of non-genetic factors. [ABSTRACT FROM AUTHOR]

The development of carcinoid heart disease (CaHD) is still relatively unknown at present. It is difficult to define an optimal follow-up for patients initially free from cardiac involvement. The aim of this study was to assess the prevalence and the evolution of CaHD using annual echocardiographic follow-up. We reviewed from our database 137 patients (61 ± 12 years, 53% men) with histologically proven neuroendocrine tumor between 1997 and 2017. All patients underwent serial conventional transthoracic echocardiographic studies. Right-sided and left-sided CaHD were systematically assessed. We used a previous validated echocardiographic scoring system of severity for the assessment of CHD. An increase of 25% of the score was considered as significant. Mean follow-up was 2.6 ± 3.5 years [0;16]. Prevalence of CaHD was 27% (37 pts) at baseline and 36% (49 pts) at the end of follow-up. Among patients with initial CaHD followed for more than one year, disease progression was observed in 28% of cases. Among the patients free from initial cardiac involvement, an onset of the disease was observed during follow-up in 21% of cases. The onset of CHD could be very late, more than 5 years from the initial echocardiographic examination in 42% of our cases (Figure 1). This late occurrence of CaHD was only observed in patients presenting with new resumption of neuroendocrine tumor (symptoms, increased of 5-HIAA, occurrence of new metastasis). Our study demonstrated that in patients without initial CaHD, cardiac involvement may occur tardily after a normal initial assessment. Our data suggest the need for prolonged echocardiographic follow-up in patients presenting with a resumption of tumor process (Figure 1). [ABSTRACT FROM AUTHOR]

Valvular heart disease (VHD) is an increased common problem in clinical practice. Early diagnosis of significant VHD is a real challenge, allowing to propose an appropriate follow-up and the best therapeutic strategy. Standard transthoracic echocardiography (sTTE) is the gold standard for the detection of VHD. Pocket-sized transthoracic echocardiography (pTTE) is an incomplete sTTE and its usefulness for screening and evaluation of VHD is uncertain. The aim of this study was to evaluate the performance of pTTE compared to sTTE and auscultation for an early screening of VHD. sTTE, pTTE (Vscan; GE Healthcare) and auscultation were performed by three different physicians in 284 unselected consecutive patients. All VHD detected by each of these three techniques were noted. sTTE was the gold standard. Each physician was blinded to the result of the other exams. We diagnosed a total of 301 VHDs with a large predominance of regurgitant lesions: 269 (89.3%) regurgitant VHDs and 32 (10.7%) stenotic VHDs. pTTE was highly sensitive (85.7%) and specific (97.9%) for screening VHD while auscultation detected only 54.1%. All significant VHDs (at least mild severity) were detected by pTTE. All aortic and mitral regurgitations not detected by pTTE were trivial regurgitations and concerned patients with a poor echogenicity. pTTE is reliable for screening significant VHD and should be proposed as a new screening tool. (Fig. 1) [ABSTRACT FROM AUTHOR]

Obtaining a firearm is not always easy, which is why some firearms that are antique or whose use is not intended to kiss are modified for suicide purposes. The two cases report a suicide with an original historical firearm as the canegun, a walking stick which conceals a firearm and a suicide with a modified alarm cannon, which is a small cannon, which fires blanks to scare away garden animals. The aims of the study were to describe the scene, the corpse external examination and the autopsy to understand the death mechanism. We wish to highlight the importance of the forensic pathologist's fieldwork, especially in complex or atypical suicides. [ABSTRACT FROM AUTHOR]

The development of carcinoid heart disease (CaHD) is still relatively unknown at present. It is difficult to define an optimal follow-up for patients initially free from cardiac involvement. The aim of this study was to assess the prevalence and the evolution of CaHD using annual echocardiographic follow-up. We reviewed from our database 137 patients (61 ± 12 years, 53% men) with histologically proven neuroendocrine tumor between 1997 and 2017. All patients underwent serial conventional transthoracic echocardiographic studies. Right-sided and left-sided CaHD were systematically assessed. We used a previous validated echocardiographic scoring system of severity for the assessment of CHD. An increase of 25% of the score was considered as significant. Mean follow-up was 2.6 ± 3.5 years [0;16]. Prevalence of CaHD was 27% (37 pts) at baseline and 36% (49 pts) at the end of follow-up. Among patients with initial CaHD followed for more than one year, disease progression was observed in 28% of cases. Among the patients free from initial cardiac involvement, an onset of the disease was observed during follow-up in 21% of cases. The onset of CHD could be very late, more than 5 years from the initial echocardiographic examination in 42% of our cases (Fig. 1). This late occurrence of CaHD was only observed in patients presenting with new resumption of neuroendocrine tumor (symptoms, increased of 5-HIAA, occurrence of new metastasis). Our study demonstrated that in patients without initial CaHD, cardiac involvement may occur tardily after a normal initial assessment. Our data suggest the need for prolonged echocardiographic follow-up in patients presenting with a resumption of tumor process. [ABSTRACT FROM AUTHOR]

Valvular heart disease (VHD) is an increased common problem in clinical practice. Early diagnosis of significant VHD is a real challenge, allowing to propose an appropriate follow-up and the best therapeutic strategy. Standard transthoracic echocardiography (sTTE) is the gold standard for the detection of VHD. Pocket-sized transthoracic echocardiography (pTTE) is an incomplete sTTE and its usefulness for screening and evaluation of VHD is uncertain. To evaluate the performance of pTTE compared to sTTE and auscultation for an early screening of VHD. sTTE, pTTE (Vscan; GE Healthcare) and auscultation were performed by three different physicians in 284 unselected consecutive patients. All VHD detected by each of these three techniques were noted. sTTE was the gold standard. Each physician was blinded to the result of the other exams. We diagnosed a total of 301 VHDs with a large predominance of regurgitant lesions: 269 (89.3%) regurgitant VHDs and 32 (10.7%) stenotic VHDs. pTTE was highly sensitive (85.7%) and specific (97.9%) for screening VHD while auscultation detected only 54.1%. All significant VHDs (at least mild severity) were detected by pTTE. All aortic and mitral regurgitations not detected by pTTE were trivial regurgitations and concerned patients with a poor echogenicity. pTTE is reliable for screening significant VHD and should be proposed as a new screening tool. [ABSTRACT FROM AUTHOR]

Background In hypertrophic cardiomyopathy (HCM), longitudinal strain analysis allows to early detect left ventricular (LV) contraction abnormalities despite preserved LV ejection fraction. In current software, the width of the region of interest (ROI) is the same over the entire myocardial wall and might analyze partially LV hypertrophic segments. Purpose The aim of this study is to evaluate a novel software for strain analysis with an adjustable ROI according to each segment thickness. Methods We included 110 patients: 55 patients with HCM (HCM group) and 55 healthy subjects (age- and sex-matched control group). All pts underwent echocardiography using a Vivid 9 GE system and measurements were performed using EchoPAC software. Global longitudinal strain (GLS) and regional strain for each of the 17 segments were calculated with standard software (for 2 groups) and with software adjusted to the myocardial wall thickness (for HCM group). Results GLS was significantly decreased in the HCM group as compared to the control group (−15.1 ± 4.8% versus–20.5 ± 4.3%, P < 0.0001). In HCM group, GLS (standard method versus adjusted to thickness) was not significantly different ( P = 0.34). Interestingly, regional strain adjusted to thickness was significantly lower than standard strain in hypertrophic segments, especially in basal inferoseptal segment ( P = 0.0002), median inferoseptal segment ( P < 0.001) and median anteroseptal segment ( P = 0.02). Strain adjusted to thickness was still significantly lower in the most hypertrophic segments (≥ 20 mm) (−3.7 ± 3%, versus −5.9 ± 4.4%, P < 0.049 in the basal inferoseptal segment and −5.7 ± 3.5% versus −8.3 ± 4.5%, P < 0.0007 in the median inferoseptal segment). Analysis of strain adjusted to thickness had a better feasibility (97.5% versus 99%, P = 0.01). Conclusion Analysis of longitudinal strain adjusted to regional thickness is feasible in HCM and allows a better evaluation of myocardial deformation, especially in the most LV hypertrophic segments. [ABSTRACT FROM AUTHOR]

Background Takotsubo cardiomyopathy (TTC) is a medical entity mimicking an acute coronary syndrome (ACS). During the acute phase, several complications may occur, even if the prognosis is generally favorable. Only small studies reported a description of supraventricular arrhythmia (SA) in TTC and little is known about related incidence. We sought to describe the characteristics, incidence, predictive factors and outcomes of SA inpatients presenting with TTC. Methods Over a twelve-year period, we reviewed all patients ( n = 5484) referred to our coronary care unit (CCU) for a suspicion of ACS. All patients presented with a confirmed diagnosis of TTC and a normalization of left ventricular ejection fraction (LEVF) during follow-up. In CCU, all patients were continually monitored by 12-lead ECG to detect the occurrence of SA. Results TTC was diagnosed in 88 patients according to the Mayo Clinic criteria, in sinus rhythm at the time of diagnosis. Incidence of SA among TTC was 14%. A difference was observed between patients with or without SA occurrence: age, hypertension, systolic pulmonary artery pressure and duration of hospitalization. Of note, patient with SA had significantly more depressed left ventricular ejection fraction at admission ( P = 0.006). A large part of patient presenting SA required the use of diuretic for heart failure during hospitalization ( P = 0.026). In multivariate analysis, the factors significantly associated with an increased risk of VA were: age ( aOR = 1.19, 95% CI: 1.01–1.39, P = 0.029) and LEVF ( aOR = 0.89, 95% CI: 0.8–0.97; P = 0.037). There was no significant difference in mortality rate between patients with or without SA during follow-up. Conclusions SA occurred in 14% of patients at the acute phase of TTC and independent predictive factors of SA were age and LEVF. During the acute phase, identification of high-risk SA patients allows better management, with ECG monitoring and therapeutic intervention in the CCU. [ABSTRACT FROM AUTHOR]