Patricia Reant

Global longitudinal strain is associated with heart failure outcomes in hypertrophic cardiomyopathy

Objective We hypothesised that abnormal global longitudinal strain (GLS) would predict outcome in hypertrophic cardiomyopathy (HCM) better than current echocardiographic measures. Methods Retrospective analysis of risk markers in relation to outcomes in 472 patients with HCM at a single tertiary institution (2006–2012). Exclusion criteria were left ventricular (LV) hypertrophy of other origin, patients in atrial fibrillation, lost to follow-up and insufficient image quality to perform strain analysis. Standardised echocardiogram recordings were reviewed and standard variables and LV GLS were measured. The primary end-point included all cardiac deaths, appropriate defibrillator shocks and heart failure (HF) admissions. The secondary end-point was death by HF and admissions related to HF. Results Mean age was 50.0±15.0u2005years; 322 (68%) were men. At a median of 4.3u2005years (IQR 0.1–7.8) follow-up, 21 (4.4%) patients experienced cardiovascular death: 6 (1.3%) died from HF, 13 (2.7%) had sudden cardiac death and 2 (0.4%) died secondary to stroke. Four (0.8%) patients experienced appropriate defibrillator shock, and 13 (2.7%) were admitted for HF. On multivariate Fine–Gray proportional hazard analyses, GLS was significantly associated with the primary end-point (HR=0.90, 95% CI 0.83 to 0.98, p=0.018) independently of age, maximal provoked LV outflow-tract gradient and LV end-systolic volume. Moreover, GLS was particularly associated with the secondary end-point (HR=0.82, 95% CI 0.75 to 0.90, p<0.0001) independently of age, previous atrial fibrillation, New York Heart Association (NYHA) class III–IV, LV end-systolic volume, E/E′, and outflow-tract gradient. Survival curves confirmed that GLS was associated with HF events (GLS <15.6%, p=0.0035). Conclusions In patients with HCM, reduced GLS is an independent factor associated with poor cardiac outcomes, and particularly HF outcomes.

The embryological basis of subclinical hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation.

Efficacy and follow-up of transcatheter aortic valve implantation in patients with radiation-induced aortic stenosis

Objective To investigate transcatheter aortic valve implantation (TAVI) feasibility, effectiveness and safety in radiation-induced aortic valve stenosis cases. Methods 198 consecutive patients referred for TAVI were prospectively enrolled. They were divided into two groups: patients with a history of chest radiation therapy with suspected radiation-induced valvular disease (RXT) and others with suspected degenerative aortic valve stenosis (NRXT). Procedural, early and mid-term clinical outcomes were compared. Results Of the 198 patients enrolled in our study, 9.6% qualified for inclusion in the RXT group. A comparison of baseline characteristics revealed that patients with RXT were younger than patients with NRXT (68.3 vs 82.5u2005years; p<0.05) and exhibited a lower surgical risk score (Euroscore: 7.1% vs 21.8%; p<0.05) and a higher frequency of hostile thorax and porcelain aorta (52.6% vs 28.5%; p<0.05; 63.2% vs 10.6%; p<0.05, respectively). In both groups, the implantation success rate was high and the 30-day safety end point acceptable (RXT: 94.7% and 83.3%; NRXT: 93.9% and 75.6%, respectively). At 6u2005months, overall mortality was significantly lower in the RXT group (0% vs 18%; p=0.048). Conclusions In patients suffering from radiation-induced aortic valve stenosis and contraindicated for surgery, TAVI is a promising approach, with high feasibility, acceptable risk, low mortality and high clinical effectiveness at mid-term follow-up.

T1 mapping in severe aortic stenosis: insights into LV remodeling

Background Aortic stenosis (AS) appears to be not just a disease of the valve, with adaptive and maladaptive myocardial remodeling playing a key role. Left ventricular (LV) remodeling in AS is characterized by cellular hypertrophy and diffuse myocardial fibrosis. Macroscopic patterns differ between patients: as hypertrophy increases, the pattern changes from normal to concentric remodeling, concentric hypertrophy and finally decompensation. T1 mapping allows non-invasive estimation of diffuse myocardial fibrosis (native T1 and extracellular volume fraction; ECV). We use this methodology to investigate and correlate macroscopic and tissue level patterns of LV remodeling in AS patients prior to aortic valve replacement (AVR) as part of a larger outcome study (RELIEF-AS Study: NCT 02174471).

Epicardial myocardial strain abnormalities may identify the earliest stages of arrhythmogenic cardiomyopathy

The aim of this cohort study was to evaluate the value of echocardiographic multilayer strain analysis in the identification of arrhythmogenic cardiomyopathy (AC) in its earliest stages in which sudden cardiac death can occurs. Twenty seven asymptomatic relatives of AC probands (mean age 39.6xa0±xa019.5xa0years, 37xa0% male) with a desmosomal pathogenic mutation but no additional criteria for AC (group II) were compared to age and sex-matched healthy controls (group I). In addition, 70 patients harboring a pathogenic desmosomal mutation with “definitive” diagnosis of AC (group IV), and 19 subjects with “borderline” diagnosis (group III) were also studied. A standard echocardiographic evaluation plus left (LV) and right ventricular global and regional transmural, endocardial, and epicardial longitudinal strain (LS) analysis, was performed. In group II, while LV ejection fraction, fractional shortening, and S′ were not significantly reduced compared to controls, transmural global LS was significantly reduced to 19.3xa0±xa01.8xa0% in group II versus 20.9xa0±xa01.1xa0% in controls (pxa0=xa00.0003). Compared to controls, group II presented significant (pxa0<xa00.05) regional LS decrease in the basal infero-lateral, antero-lateral, latero-apical, infero-septal, and septo-apical segments. Moreover, LS of the latero-apical and the basal antero-lateral segments was significantly altered in the epicardium (pxa0<xa00.05) but not significantly in the endocardium. Global and regional LV LS analysis allows detection of AC in an early or non-diagnostic stage of the disease. Moreover, epicardial LS analysis allows the detection of abnormalities earlier than endocardial LS.

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy.

BackgroundSarcomeric gene mutations cause hypertrophic cardiomyopathy (HCM). In gene mutation carriers without left ventricular (LV) hypertrophy (Gu2009+u2009LVH-), subclinical imaging biomarkers are recognized as predictors of overt HCM, consisting of anterior mitral valve leaflet elongation, myocardial crypts, hyperdynamic LV ejection fraction, and abnormal apical trabeculation. Reverse curvature of the interventricular septum (into the LV) is characteristic of overt HCM. We aimed to assess LV septal convexity in subclinical HCM.MethodsCardiovascular magnetic resonance was performed on 36xa0Gu2009+u2009LVH- individuals (31u2009±u200914xa0years, 33xa0% males) with a pathogenic sarcomere mutation, and 36 sex and age-matched healthy controls (33u2009±u200912xa0years, 33xa0% males). Septal convexity (SCx) was measured in the apical four chamber view perpendicular to a reference line connecting the mid-septal wall at tricuspid valve insertion level and the apical right ventricular insertion point.ResultsSeptal convexity was increased in Gu2009+u2009LVH- compared to controls (maximal distance of endocardium to reference line: 5.0u2009±u20092.5xa0mm vs. 1.6u2009±u20092.4xa0mm, pu2009≤u20090.0001). Expected findings occurred in Gu2009+u2009LVH- individuals: longer anterior mitral valve leaflet (23.5u2009±u20093.0xa0mm vs. 19.9u2009±u20093.1xa0mm, pu2009≤u20090.0001), higher relative wall thickness (0.31u2009±u20090.05 vs. 0.29u2009±u20090.04, pu2009≤u20090.05), higher LV ejection fraction (70.8u2009±u20094.3xa0% vs. 68.3u2009±u20094.4xa0%, pu2009≤u20090.05), and smaller LV end-systolic volume index (21.4u2009±u20094.4xa0ml/m2vs. 23.7u2009±u20095.8xa0ml/m2, pu2009≤u20090.05). Other morphologic measurements (LV angles, sphericity index, and eccentricity index) were not different between Gu2009+u2009LVH- and controls.ConclusionsSeptal convexity is an additional previously undescribed feature of subclinical HCM.

Multimodality imaging in restrictive cardiomyopathies: an european association of cardiovascular imaging expert consensus document in collaboration with the “Working group on myocardial and pericardial diseases” of the european society of cardiology endorsed by the indian academy of echocardiography

Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM.