Total anomalous pulmonary venous connection to an unroofed coronary sinus diagnosed in a fetus with associated spinal muscular atrophy type I

Total anomalous pulmonary venous connection (TAPVC) to unroofed coronary sinus is a rare cardiac condition. We report the first case of antenatal diagnosis which had a rapid and fatal neonatal course due to spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). The diagnosis of TAPVC with unroofing of the coronary sinus was made at 26 weeks’ gestation, although a dilated inferior caval vein had been recognised at 23 weeks’ gestation. Due to profound hypotonia after birth, genetic review followed by muscle biopsy was performed due to presumptive diagnosis of SMA. The infant deteriorated rapidly, became ventilator dependent and died at the age of 6 weeks. The worst types of SMA are associated with only one copy of SMN2 (survival motor neuron 2) protein, which was also the case of our infant. Although a powerful association with congenital heart defects was described, it has not been reported with TAPVC to unroofed coronary sinus. Moreover, this cardiac condition has not been previously recognised antenatally

Accuracy and Test-Retest Reproducibility of Two-Dimensional Knowledge-Based Volumetric Reconstruction of the Right Ventricle in Pulmonary Hypertension

Right heart function is the key determinant of symptoms and prognosis in pulmonary hypertension (PH), but the right ventricle has a complex geometry that is challenging to quantify by two-dimensional (2D) echocardiography. A novel 2D echocardiographic technique for right ventricular (RV) quantitation involves knowledge-based reconstruction (KBR), a hybrid of 2D echocardiography-acquired coordinates localized in three-dimensional space and connected by reference to a disease-specific RV shape library. The aim of this study was to determine the accuracy of 2D KBR against cardiac magnetic resonance imaging in PH and the test-retest reproducibility of both conventional 2D echocardiographic RV fractional area change (FAC) and 2D KBR

Effect of statins on venous thromboembolic events: a meta-analysis of published and unpublished evidence from randomised controlled trials

Background - It has been suggested that statins substantially reduce the risk of venous thromboembolic events. We sought to test this hypothesis by performing a meta-analysis of both published and unpublished results from randomised trials of statins. Methods and Findings - We searched MEDLINE, EMBASE, and Cochrane CENTRAL up to March 2012 for randomised controlled trials comparing statin with no statin, or comparing high dose versus standard dose statin, with 100 or more randomised participants and at least 6 months' follow-up. Investigators were contacted for unpublished information about venous thromboembolic events during follow-up. Twenty-two trials of statin versus control (105,759 participants) and seven trials of an intensive versus a standard dose statin regimen (40,594 participants) were included. In trials of statin versus control, allocation to statin therapy did not significantly reduce the risk of venous thromboembolic events (465 [0.9%] statin versus 521 [1.0%] control, odds ratio [OR] = 0.89, 95% CI 0.78–1.01, p = 0.08) with no evidence of heterogeneity between effects on deep vein thrombosis (266 versus 311, OR 0.85, 95% CI 0.72–1.01) and effects on pulmonary embolism (205 versus 222, OR 0.92, 95% CI 0.76–1.12). Exclusion of the trial result that provided the motivation for our meta-analysis (JUPITER) had little impact on the findings for venous thromboembolic events (431 [0.9%] versus 461 [1.0%], OR = 0.93 [95% CI 0.82–1.07], p = 0.32 among the other 21 trials). There was no evidence that higher dose statin therapy reduced the risk of venous thromboembolic events compared with standard dose statin therapy (198 [1.0%] versus 202 [1.0%], OR = 0.98, 95% CI 0.80–1.20, p = 0.87). Risk of bias overall was small but a certain degree of effect underestimation due to random error cannot be ruled out. Please see later in the article for the Editors' Summary. Conclusions - The findings from this meta-analysis do not support the previous suggestion of a large protective effect of statins (or higher dose statins) on venous thromboembolic events. However, a more moderate reduction in risk up to about one-fifth cannot be ruled out

In-hospital interstage improves interstage survival after the Norwood stage 1 operation.

OBJECTIVES: The interstage mortality rate after a Norwood stage 1 operation remains 12-20% in current series. In-hospital interstage facilitates escalation of care, possibly improving outcome. METHODS: A retrospective study was designed for hypoplastic left heart syndrome (HLHS) and HLHS variants, offering an in-hospital stay after the Norwood operation until the completion of stage 2. Daily and weekly examinations were conducted systematically, including two-dimensional and speckle-tracking echocardiography. Primary end points included aggregate survival until the completion of stage 2 and interstage freedom from escalation of care. Moreover, we calculated the sensitivity and specificity of speckle-tracking echocardiographic myocardial deformation in predicting death/transplant after the Norwood procedure. RESULTS: Between 2015 and 2019, 33 neonates with HLHS (24) or HLHS variants (9) underwent Norwood stage 1 (31) or hybrid palliation followed by a comprehensive stage 2 operation (2). Stage 1 Norwood-Sano was preferred in 18 (54.5%) neonates; the classic Norwood with Blalock-Taussig shunt was performed in 13 (39.4%) neonates. The Norwood stage 1 30-day mortality rate was 6.2%. The in-hospital interstage strategy was implemented after Norwood stage 1 with a 3.4% interstage mortality rate. The aggregate Norwood stage 1 and interstage Kaplan-Meier survival rate was 90.6 ± 5.2%. Escalation of care was necessary for 5 (17.2%) patients at 2.5 ± 1.2 months during the interstage for compromising atrial arrhythmias (2), Sano-shunt stenosis (1) and pneumonia requiring a high-frequency oscillator (2); there were no deaths. A bidirectional Glenn (25) or a comprehensive-Norwood stage 2 (2) was completed in 27 patients at 4.7 ± 1.2 months with a 92.6% survival rate. The overall Kaplan-Meier survival rate is 80.9 ± 7.0% at 4.3 years (mean 25.3 ± 15.7 months). An 8.7% Δ longitudinal strain 30 days after Norwood stage 1 had 100% sensitivity and 81% specificity for death/transplant. CONCLUSIONS: In-hospital interstage facilitates escalation of care, which seems efficacious in reducing interstage Norwood deaths. A significant reduction of longitudinal strain after Norwood stage 1 is a strong predictor of poor outcome

Myocardial strain analysis by cardiac magnetic resonance 3D feature-tracking identifies subclinical abnormalities in patients with neuromuscular disease and no overt cardiac involvement

AIMS: Cardiovascular magnetic resonance (CMR) is valuable for the detection of cardiac involvement in neuromuscular diseases (NMDs). We explored the value of 2D- and 3D-left ventricular (LV) myocardial strain analysis using feature-tracking (FT)-CMR to detect subclinical cardiac involvement in NMD. METHODS AND RESULTS: The study included retrospective analysis of 111 patients with NMD; mitochondrial cytopathies (n = 14), Friedreich's ataxia (FA, n = 27), myotonic dystrophy (n = 27), Becker/Duchenne's muscular dystrophy (BMD/DMD, n = 15), Duchenne's carriers (n = 6), or other (n = 22) and 57 age- and sex-matched healthy volunteers. Biventricular volumes, myocardial late gadolinium enhancement (LGE), and LV myocardial deformation were assessed by FT-CMR, including 2D and 3D global circumferential strain (GCS), global radial strain (GRS), global longitudinal strain (GLS), and torsion. Compared with the healthy volunteers, patients with NMD had impaired 2D-GCS (P < 0.001) and 2D-GRS (in the short-axis, P < 0.001), but no significant differences in 2D-GRS long-axis (P = 0.101), 2D-GLS (P = 0.069), or torsion (P = 0.122). 3D-GRS, 3D-GCS, and 3D-GLS values were all significantly different to the control group (P < 0.0001 for all). Especially, even NMD patients without overt cardiac involvement (i.e. LV dilation/hypertrophy, reduced LVEF, or LGE presence) had significantly impaired 3D-GRS, GCS, and GLS vs. the control group (P < 0.0001). 3D-GRS and GCS values were significantly associated with the LGE presence and pattern, being most impaired in patients with transmural LGE. CONCLUSIONS: 3D-FT CMR detects subclinical cardiac muscle disease in patients with NMD even before the development of replacement fibrosis or ventricular remodelling which may be a useful imaging biomarker for early detection of cardiac involvement. © The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For permissions, please email: [email protected]