Right ventricular function in late-onset Pompe disease.

Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. The right ventricular (RV) function is a determinant parameter of clinical outcome in patients with heart failure. We sought to characterize the RV function using Doppler-echocardiography completed by Doppler tissular imaging and tricuspid annular plane systolic excursion (TAPSE) measurement. We analyzed retrospectively clinical and Doppler-echocardiographic data of patients with adult late onset Pompe disease and compared to a control group. Ten patients with late onset Pompe disease were included in our study and were compared to a control group (seven patients). Mean age was 56.7 ± 10.2 years in late onset Pompe disease versus 55 ± 21 years in control group (p  = 0.65). Left ventricular ejection fraction (LVEF) was similar in the two groups (LVEF 63.7 ± 9 vs 63.7 ± 6.6 % in control group p  = 0.99). LV end diastolic diameter was 40.8 ± 6 mm in Pompe disease versus 45.8 ± 6 mm in control group (p  = 0.11). Mean TAPSE was similar in the two groups (25.6 ± 6.2 vs 21.5 ± 2.7 mm p = 0.23). Mean peak systolic RV velocity Sm was not significantly different in the two groups (17.11 ± 3.4 cm/s in Pompe disease vs 16.14 ± 3.8 cm/s in control group p = 0.61). Mean peak early diastolic Ea velocity in the RV were not significantly different in the two groups (15.6 ± 5.6 vs 18.2 ± 4.9 cm/s p = 0.34). According to our data, RV systolic function seems preserved in late-onset Pompe disease.

Cardiac asynchrony in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. Heart failure is a classical complication in this disease. Little data are available about systolic dyssynchrony in DMD. We sought to assess the prevalence of left ventricular dysfunction and systolic asynchrony in DMD patients using echocardiographic parameters. We performed electrocardiography and echocardiography for adult's patients with DMD. For systolic dyssynchrony assessment, echocardiography-Doppler was performed and completed by tissular Doppler imaging. 48 DMD were included in our study. Age ranged from 20 to 37 years. QRS duration >120 ms was present in 10 patients/48 and 1 patient disclosed a QRS duration >150 ms. Left ventricular (LV) ejection fraction (EF) ranged from 10 to 62 % with a median of 43 %. Inter-ventricular asynchrony was found in 11.9 % of patients with EF < 35 % and in 2.6 % of patients with EF > 35 %. Intra-ventricular asynchrony was present in 6 % of patients with EF < 35 %. We found a high prevalence of LV dysfunction in DMD. Systolic ventricular asynchrony seems frequent particularly in patients with EF < 35 %.

StO2 guided early resuscitation in subjects with severe sepsis or septic shock: a pilot randomised trial.

The scientific community has agreed upon developing accurate monitoring of tissue perfusion and oxygenation to improve the management of subjects with sepsis. This pilot study aimed to investigate the feasibility of targeting tissue oxygen saturation (StO2) in addition to the currently recommended resuscitation goals, central venous pressure, mean arterial pressure and central venous oxygen saturation, in patients with severe sepsis or septic shock. A pilot, single-centre, randomised, non-blinded trial recruited 30 subjects with severe sepsis upon intensive care unit admission at an academic medical centre in France. Subjects were randomly assigned to a 6 h resuscitation strategy following the Surviving Sepsis Campaign guidelines with (experimental) or without (control) StO2. StO2 was measured over several muscles (masseter, deltoid and pectoral or thenar muscles), and a StO2 above 80 % over at least 2 muscles was the therapeutic goal. The primary outcome was evaluated as follows: 7-day mortality or worsening of SOFA score between day 7 and study onset, i.e., DSOFA > 0). Thirty subjects were included in the study over a period of 40 weeks. Fifteen subjects were included in each group. Monitoring of StO2 over three areas was performed in the experimental group. However, measures over the pectoral muscle provided poor results. At study day 7, there were 5/15 (33.3 %) subjects who died or had a DSOFA > 0 in the experimental arm and 4/15 (26.6 %) who died or had a DSOFA > 0 in the control arm (p = 1.00). This pilot study was the first randomised controlled trial using an algorithm derived from the SSC recommendations, which included StO2 as a treatment goal. However, the protocol showed no clear trend for or against targeting StO2.

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.

Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods and Results We studied 90 genetically proven patients with Duchenne muscular dystrophy from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function. Prognostic value was assessed in terms of death and cardiac events. The median age was 27.5 years, and median forced vital capacity was at 10% of the predicted value: 83 patients (92%) were on home mechanical ventilation. An RV systolic dysfunction was found in 46 patients (51%). In patients without RV dysfunction at inclusion, a left ventricular systolic dysfunction at inclusion was associated with a higher risk of developing RV dysfunction during follow-up with an odds ratio of 4.5 (P=0.03). 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 was 4.96 (95% CI [1.09-22.6]; P=0.04). In terms of death, we found a significant difference between patients with RV dysfunction versus patients without RV dysfunction in the Kaplan-Meier curves (log-rank P=0.045). Conclusions RV systolic dysfunction is frequently present in patients with Duchenne muscular dystrophy and is associated with increased risk of cardiac events, irrespective of left ventricular dysfunction and mechanical ventilation. Registration URL: https://www.clinicaltrials.org; unique identifier: NCT02501083.

Masseter tissue oxygen saturation predicts normal central venous oxygen saturation during early goal-directed therapy and predicts mortality in patients with severe sepsis.

OBJECTIVE: This study aimed to investigate, in patients with severe sepsis, the correlation between central venous oxygen saturation and tissue oxygen saturation at different levels. DESIGN: Prospective observational study. SETTING: General intensive care unit at an academic medical center in France. PATIENTS: Thirty-eight patients with underresuscitated severe sepsis and septic shock on intensive care unit admission. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: During early resuscitation according to the 6-hr bundles of the Surviving Sepsis Campaign guidelines, tissue oxygen saturation was recorded every other hour at the level of the thenar, masseter, and deltoid muscles along with central hemodynamics, arterial lactate concentrations, and central venous oxygen saturation. Over the 6-hr resuscitation period, thenar tissue oxygen saturation was consistently higher than masseter tissue oxygen saturation (p = .04) and deltoid tissue oxygen saturation (p = .002), and masseter tissue oxygen saturation was consistently higher than deltoid tissue oxygen saturation (p = .04). Receiver operating characteristic curves analyses showed that masseter tissue oxygen saturation was better predictor of central venous oxygen saturation >70% than thenar tissue oxygen saturation (area under the curve, 0.80; 95% confidence interval 0.71-0.89 vs. 0.67; 95% confidence interval 0.56-0.77; p = .02). The crude 28-day mortality was 36.8%. Receiver operating characteristic curve analysis showed that masseter tissue oxygen saturation (area under the curve 0.87; 0.75-0.98) and deltoid tissue oxygen saturation (area under the curve 0.88; 0.77-0.98) but not thenar tissue oxygen saturation (area under the curve 0.66; 0.46-0.86) or central venous oxygen saturation (area under the curve 0.56; 0.38-0.80) were strong predictors of 28-day mortality. CONCLUSIONS: This study suggested that in the early 6-hr resuscitation period, masseter tissue oxygen saturation accurately identified patients with severe sepsis and central venous oxygen saturation >70%. Both masseter tissue oxygen saturation and deltoid tissue oxygen saturation but not central venous oxygen saturation or thenar tissue oxygen saturation are strong predictors of 28-day mortality.

Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by the absence of dystrophin, a sarcolemmal protein which links the cytoskeleton to the extracellular matrix by interacting with a large number of proteins. Heart failure is a classic complication of this disease. The authors review the pathogenesis and therapeutics of cardiac involvement in DMD.

Masseter muscle oxygen saturation is associated with central venous oxygen saturation in patients with severe sepsis.

OBJECTIVE: This monocentric prospective study was conducted to determine if tissue oxygen saturation measured non invasively over masseter muscle site (Masseter-StO2) can predict the central venous oxygen saturation (ScvO2) level in severe sepsis and septic shock. METHODS: Sixteen consecutive patients with severe sepsis (n = 10) or septic shock (n = 6) were included in this study. ScvO2 was measured on blood samples taken from the superior vena cava via the distal line of a central venous catheter. Masseter-StO2 was measured with a 25 mm depth infrared probe, applied and attached to the skin using transparent adhesive shields. Fifty-seven pairs of measures were obtained. RESULTS: Mean ScvO2 was 76.5% (median 81, standard deviation 15, range [14-94]). Twenty percent of the ScvO2 measures were lower than 70%. Seven out of 16 patients had at least one measure of 70% or less. Mean Masseter-StO2 was 81% (median 91, standard deviation 18, range [29-98]). We found a significant association between ScvO2 and Masseter-StO2 (correlation coefficient 0.65, P < 0.01), however agreement was moderate. CONCLUSION: In patients with severe sepsis or septic shock, non invasive recording of Masseter-StO2 was significantly associated with ScvO2 Further studies are required to determine the usefulness of Masseter-StO2 guided management of severe sepsis or septic shock.

[Right ventricular assessment with echocardiography]. / Analyse échocardiographique du ventricule droit.

Right ventricular (RV) function is essential in cardio--pulmonary physiology and physiopathology. RV dysfunction has prognostic impact in inferior myocardial infarction, significant valvulopathies, congenital cardiopathies, arterial pulmonary hypertension and in patients suffering from acute or chronic heart failure. RV analysis relies on non invasive (echocardiography-Doppler, isotopic technology, cardiac magnetic resonance imaging) and/or invasive approaches (right cardiac catheterization). Neglected a short time ago, RV assessment has regained interest with tissular Doppler imaging, strain imaging and 2D speckle tracking. We review echocardiography and Doppler -parameters used for right -ventricular assessment.

Targeting skeletal muscle tissue oxygenation (StO2) in adults with severe sepsis and septic shock: a randomised controlled trial (OTO-StS Study).

OBJECTIVE: Evaluation of the ratio of oxyhaemoglobin to total haemoglobin in skeletal muscle (StO2) using near-infrared spectroscopy may aid in the monitoring of patients with sepsis. This study assessed the benefits and risks of targeting StO2 in adults with severe sepsis or septic shock. DESIGN: A European randomised controlled trial was performed on two parallel groups. SETTING: Five intensive care units (ICU) in France, Greece, Spain and Germany were used for the study. PARTICIPANTS: A total of 103 adults with severe sepsis or septic shock on ICU admission were randomised (54 subjects in the experimental arm and 49 subjects in the control arm). INTERVENTIONS: Haemodynamic management using an algorithm that was adapted from the 2004 Surviving Sepsis Campaign guidelines with (experimental arm) or without (control arm) targeting an StO2 value greater than 80% at a minimum of two different sites. OUTCOMES: The primary outcome was a composite: 7-day all-cause mortality or worsening of organ function, defined as a positive difference in Sepsis-related Organ Failure Assessment (SOFA) score between day 7 and randomisation (ie, delta SOFA >0). Secondary endpoints: 30-day mortality, duration of mechanical ventilation and vasopressor therapy up to 30 days from randomisation. RESULTS: The study ended prematurely due to lack of funding after enrolment of 103/190 patients. Eighteen patients (33.3%) in the experimental arm and 14 (28.6%, P=0.67) in the control arm died or exhibited delta SOFA >0 on day 7. The mean number of days on mechanical ventilation was 12.2±10.6 in the experimental group and 7.6±7.9 in the control group (P=0.03). Thirty-one (57%) patients in the experimental arm and 14 (29%) patients in the control arm received red cells by day 7 (P=0.01). CONCLUSION: Despite the limitation related to premature termination, this study provides no data to support the routine implementation of resuscitation protocols incorporating StO2 >80% at two or more muscle sites as a target. StO2-guided therapy may be associated with prolonged use of mechanical ventilation and an increased number of red blood cell transfusions. TRIAL REGISTRATION NUMBER: NCT00167596; Results.

Natural history of cardiac function in Duchenne and Becker muscular dystrophies on home mechanical ventilation.

Heart impairment is classical in dystrophinopathies and its management relies on medical drugs. Mechanical ventilation is used to treat respiratory failure, but can affect cardiac function. We aimed to investigate the natural history of cardiac function in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies on home mechanical ventilation (HMV).We reviewed the chart of DMD and BMD patients, followed in our institution, to obtain ventilation setting at HMV initiation and echocardiographic data at baseline and end follow up, as well as onset cardiac events and thoracic mechanical complication. We analyzed cumulative incidence of cardiac events as well as echocardiographic parameters evolution and its association with ventilation settings.We included 111 patients (101 DMD and 10 BMD). Median age was 21 years [18-26], median pulmonary vital capacity (VC) 15% of predicted [10-24]. All patients were on HMV and 46% ventilated using tracheostomy. After a median follow up of 6.3 years, we found a slight decrease of the left ventricular ejection fraction (LVEF) (45% at end follow up vs 50% at baseline P = .019) and a stabilization of the LV end diastolic diameter indexed (LVEDD indexed 29.4 mm/m vs 30.7 mm/m at end follow up, P = .17). Tidal volume (VT) level was inversely associated with the annual rate of the LVEF decline (r = -0.29, P = .025). Left atrium (LA) diameter decreased with mechanical ventilation (24 mm vs 20 mm, P = .039) and we found a reduction of systolic pulmonary pressure (35 mm Hg vs 25 mm Hg, P = .011). The cumulative incidence of cardiac events was 12.6%. Pneumothorax occurred in 4% of patients. Hypoxic arrest secondary to the presence of tracheal plugin occurred in 4% of patients with invasive ventilation.HMV is not harmful, decreases pulmonary pressure and may protect heart in dystrophinopathies, in addition with cardioprotective drugs. In patients with DMD and BMD on HMV, cumulative incidence of cardiac events remains moderate and incidence of pneumothorax is rare.

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

Cardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycan proteins (α, ß, γ, and δ) genes mutations. Management of patients with restrictive respiratory failure mainly relies on home mechanical ventilation (HMV). Little is known about the cardiac effects of prolonged mechanical ventilation in patients with muscular dystrophy and restrictive respiratory insufficiency. We aimed to assess the effects of HMV on cardiac function in sarcoglycanopathies. We retrospectively included 10 genetically proven patients with sarcoglycanopathy followed at the HMV unit of the Raymond Poincare University Hospital (4 patients with α-sarcoglycanopathy and 6 patients with γ-sarcoglycanopathy). We collected cardiorespiratory clinical baseline data and left ventricular ejection fraction (LVEF) at baseline before initiation of HMV and at the end of follow-up. At baseline, median age was 30.5 years (27 to 39) and median pulmonary vital capacity was 27% of the predicted value (21 to 36). Forty percent of the patients had documented sleep apnea. Cardiomyopathy, defined as LVEF <50%, was found in 3 patients with γ-sarcoglycanopathy. After a median follow-up of 3 years (1.0 to 4.5), there was a significant increase in LVEF after initiation of HMV, that is, 62% (48 to 65) versus 53% (45.5 to 56.5) (p = 0.0039). In conclusion, HMV in sarcoglycanopathies is not harmful and may protect left ventricular function by its thoracic physiological effects.

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. METHODS: We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital. RESULTS: A total of 121 patients, aged from 18 to 41 years have been included in our study. Median vital capacity (VC) was 12% [7; 19.5] of predicted. Almost all patients were on home mechanical ventilation (95%). LBBB was present in 15 patients (13%); among them, 10 disclosed exonic deletions. After a median follow up of 6 years, 21 patients (17%) experienced acute heart failure (AHF), 7 patients (6%) supraventricular arrhythmia, 3 patients (2.4%) ventricular tachycardia, 4 patients (3%) significant electrical disturbances. LBBB was significantly associated with cardiac events (OR = 12.7; 95%CI [3.78-42.7]; p <0.0001) and mortality (OR = 4.4; 95%CI [1.44-13.7]; p 0.009). Presence of residual dystrophin protein was not associated with significant less cardiac events. Age and LVEF were also predictive factors for cardiac events and mortality. CONCLUSION: LBBB is relatively frequent in DMD and is a major predictive factor for cardiac events and mortality. Presence of residual dystrophin protein was not associated with a lower incidence of cardiac events.

Brain lesions in septic shock: a magnetic resonance imaging study.

BACKGROUND: Understanding of sepsis-induced brain dysfunction remains poor, and relies mainly on data from animals or post-mortem studies in patients. The current study provided findings from magnetic resonance imaging of the brain in septic shock. METHODS: Nine patients with septic shock and brain dysfunction [7 women, median age 63 years (interquartile range 61-79 years), SAPS II: 48 (44-56), SOFA: 8 (6-10)] underwent brain magnetic resonance imaging including gradient echo T1-weighted, fluid-attenuated inversion recovery (FLAIR), T2-weighted and diffusion isotropic images, and mapping of apparent diffusion coefficient. RESULTS: Brain imaging was normal in two patients, showed multiple ischaemic strokes in two patients, and in the remaining patients showed white matter lesions at the level of the centrum semiovale, predominating around Virchow-Robin spaces, ranging from small multiple areas to diffuse lesions, and characterised by hyperintensity on FLAIR images. The main lesions were also characterised by reduced signal on diffusion isotropic images and increased apparent diffusion coefficient. The lesions of the white matter worsened with increasing duration of shock and were correlated with Glasgow Outcome Score. CONCLUSION: This preliminary study showed that sepsis-induced brain lesions can be documented by magnetic resonance imaging. These lesions predominated in the white matter, suggesting increased blood-brain barrier permeability, and were associated with poor outcome.

Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.

AIMS: Duchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical ventilation (MV) patients, the clinical presentation of acute heart failure (AHF) syndrome may be atypical. We sought to describe clinical and genetic profiles and to determine prognosis of DMD and Becker muscular dystrophy (BMD) patients on home MV (HMV), hospitalized for AHF. METHODS AND RESULTS: We included genetically proven DMD and BMD patients on HMV admitted for AHF. A total of 13 patients (11 DMD and 2 BMD) fulfilled the inclusion criteria. Median age was 34.0 [interquartile range (IQR) 26.0; 40.0] years. Median pulmonary vital capacity was 9.0% (6.0; 15.0) of predicted value. Long-term invasive ventilation was performed in 69% of patients. All the 11 DMD patients carried out-of-frame DMD gene mutations. At admission, dyspnoea was present in 46%, lipothymia in 23%, and abdominal discomfort in 38.4% of patients. A total of 53.8% of patients showed anasarca. Cardiogenic shock presentation was found in six patients (46%). Ejection fraction was severely altered [median 25% (IQR 20; 30)]. Intra-hospital mortality rate was 30%, reaching 53.8 % after 1 year. Previous episodes of AHF ≥ 2 were associated with intra-hospital mortality (P = 0.025). In patients with cardiogenic shock, intra-hospital mortality rate was 66.6%, reaching 83.3% after 1 year. CONCLUSIONS: In adult DMD and BMD patients with severe ejection fraction alteration and on HMV, admitted for AHF, right cardiac signs are frequent. The intra-hospital and 1 year mortality rate was high and was associated with previous episodes of AHF ≥ 2.

Emerging drugs for the treatment of sepsis.

Septic shock still places a major burden on the healthcare system, although recent years have been marked by the demonstration that corticosteroids and activated protein C may substantially improve survival in selected populations. This review discusses the current management of septic shock and the potential development of new therapeutics following impressive advances in the pathomechanisms of septic shock.

Relative adrenal failure in the ICU: an identifiable problem requiring treatment.

Critically ill patients at some stage may develop adrenal insufficiency (AI). This article reviews the mechanisms, diagnosis criteria, consequences, and treatment of AI in various ICU conditions. Glucocorticoid insufficiency may be related to a decrease in glucocorticoid synthesis (ie, adrenal insufficiency) or to a reduced delivery of glucocorticoid to target tissues and cells. Diagnosis relies on clinical suspicion and ACTH test results. The length of cortisol replacement therapy should be at least 7 days and the adjunction of fludrocortisone is recommended.

Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks.

BACKGROUND/OBJECTIVES: Muscular dystrophies are genetic muscle disorders, in which heart involvement and chronic respiratory impairment affect survival. Cardiac conduction disturbances require implantable cardiac pacemaker. Implantable defibrillators may also be necessary to prevent cardiac sudden death. The safety and risk of cardiac electronic devices' implantation are not known in patients with muscular dystrophy. We aimed to assess the risks related to cardiac implantable electronic devices (CIED) in muscular dystrophy patients ventilated by tracheostomy. METHODS: We reviewed all medical charts of neuromuscular patients and identified all CIED implantations of pacemakers (PM) or defibrillators (ICD) in patients ventilated using tracheostomy. RESULTS: Twelve device implantations were included, performed in 9 patients (5 DMD, 1 Becker muscular dystrophy and 3 DM1). Mean age was 39.9years±13.0. All patients were wheel-chair bound and tracheotomized. Six pacemakers (PM) and 6 cardiac resynchronization (CRT) devices, including 2 defibrillators (CRT-D) were implanted. Following device implantation, two patients had a pneumothorax and one died from severe heart failure after an unsuccessful CRT implant attempt. Follow-up lasted up to 8years (mean 2.6±2.9years), during which one patient presented a PM pocket infection, requiring PM explantation and epicardial reimplantation. CONCLUSION: We found a high prevalence of early complications (16.6% pneumothorax) after CIED implantation and an acceptable long-term infectious risk (8.3%). These results highlight the feasibility of CIED implantation in tracheotomized patients with muscular dystrophies and the need for a particular caution in the management of these patients during invasive procedures. ClinicalTrials.gov (identifier: NCT02501083).

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

BACKGROUND: Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy, impaired respiratory muscle function and cardiomyopathy. The correlation and the prognostic impact of respiratory and heart impairment are poorly described. We aimed to describe the long-term cardiac and respiratory follow-up of these patients and to determine predictive factors of cardio-respiratory events and mortality in LGMD 2C and 2D. METHODS: We reviewed the charts of 34 LGMD patients, followed from 2005 to 2015, to obtain echocardiographic, respiratory function and sleep recording data. We considered respiratory events (acute respiratory failure, pulmonary sepsis, atelectasis or pneumothorax), cardiac events (acute heart failure, significant cardiac arrhythmia or conduction block, ischemic stroke) and mortality as outcomes of interest for the present analysis. RESULTS: A total of 21 patients had type 2C LGMD and 13 patients had type 2D. Median age was 30 years [IQR 24-38]. At baseline, median pulmonary vital capacity (VC) was 31% of predicted value [20-40]. Median maximal inspiratory pressure (MIP) was 31 cmH2O [IQR 20.25-39.75]. Median maximal expiratory pressure (MEP) was 30 cm H2O [20-36]. Median left ventricular ejection fraction (LVEF) was 55% [45-64] with 38% of patients with LVEF <50%. Over a median follow-up of 6 years, we observed 38% respiratory events, 14% cardiac events and 20% mortality. Among baseline characteristics, LVEF and left ventricular end diastolic diameter (LVEDD) were associated with mortality, whilst respiratory parameters (VC, MIP, MEP) and the need for home mechanical ventilation (HMV) were associated with respiratory events. CONCLUSION: In our cohort of severely respiratory impaired type 2C and 2D LGMD, respiratory morbidity was high. Cardiac dysfunction was frequent in particular in LGMD 2C and had an impact on long-term mortality. TRIAL REGISTRATION: ClinicalTrials.gov NCT02501083.

Diastolic Function in Steinert's Disease.

Myotonic dystrophy type 1 (MD) is the most common autosomal dominant muscular dystrophy in adults. Cardiac involvement is mainly characterized by conduction abnormalities and arrhythmias. We sought to assess diastolic function in MD patients. Echocardiography-Doppler was performed in Steinert's patients and in a control group completed by tissue Doppler imaging (TDI). Twenty-six patients with Steinert's disease were included in the study and were compared to a control group. Mean age was similar in the 2 groups (45.1 years ±10.9 in Steinert's patients vs 42.1 years ±11 in control group p 0.4). 6 /26 patients with Steinert's disease disclosed a left ventricular (LV) ejection fraction <50%. Mean left atrial (LA) diameter was statistically different between Steinert's patients and patients in group control (27.8 mm ±8.5 vs 19.7 mm ±4; P=0.0018). Mean peak E/A mitral ratio was 1.29±0.45 in Steinert's patients vs 1.36±0.4 in control group (P=0.6). We found an increase of the mitral E deceleration time in Steinert's patients in comparison with patients in control group (219 ms ±53 vs 176 ms ±29; P=0.013). Mean peak lateral early diastolic velocity Ea was similar in the 2 groups (12.3 cm/s ±3 vs 13.1 cm/s ±3.8; P=0.50). Mean peak septal early diastolic velocity was similar in the 2 groups (11.2 cm/s ±2 vs 10.4±2; P=0.51). We found an increase of the LA diameter and an increase of the mitral deceleration time in Steinert's patients that suggest diastolic abnormalities.

Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.

Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. We sought to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. We conducted a retrospective study that aimed to analyse clinical and echocardiographic data of patients with sarcoglycanopathies. Our study included 19 patients: eight patients with alpha-sarcoglycanopathy and 11 patients with gamma-sarcoglycanopathy. Mean age was 37.8 ± 8.7 years in alpha-sarcoglycanopathy and 36 ± 7.3 years in gamma-sarcoglycanopathy. Mean VC was, respectively, 36.3 ± 18 % in alpha-sarcoglycanopathy and 23.5 ± 6.8 % in gamma-sarcoglycanopathy (p 0.05). 1/8 patients disclosed a left ventricular dysfunction with a left ventricular ejection fraction (LVEF) <50 % in alpha-sarcoglycanopathy, whereas 5/11 patients disclosed a left ventricular dysfunction (LVEF < 50 %) in gamma-sarcoglycanopathy. LV was altered in gamma-sarcoglycanopathy than in alpha-sarcoglycanopathy (LVEF at 45.6 ± 18 vs. 59.6 ± 5.9 % p 0.018). We found a significant alteration of the left ventricular function in gamma-sarcoglycanopathy compared to alpha-sarcoglycanopathy.