Relationship between MRI Derived Right Ventricular Mass and Left Ventricular Involvement in Patients with Anderson-Fabry Disease

Poster presentationpublished_or_final_versio

Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease

published_or_final_versio

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

BACKGROUND: Sarcomeric gene mutations cause hypertrophic cardiomyopathy (HCM). In gene mutation carriers without left ventricular (LV) hypertrophy (G + LVH-), 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. METHODS: Cardiovascular magnetic resonance was performed on 36 G + LVH- individuals (31 ± 14 years, 33 % males) with a pathogenic sarcomere mutation, and 36 sex and age-matched healthy controls (33 ± 12 years, 33 % 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. RESULTS: Septal convexity was increased in G + LVH- compared to controls (maximal distance of endocardium to reference line: 5.0 ± 2.5 mm vs. 1.6 ± 2.4 mm, p ≤ 0.0001). Expected findings occurred in G + LVH- individuals: longer anterior mitral valve leaflet (23.5 ± 3.0 mm vs. 19.9 ± 3.1 mm, p ≤ 0.0001), higher relative wall thickness (0.31 ± 0.05 vs. 0.29 ± 0.04, p ≤ 0.05), higher LV ejection fraction (70.8 ± 4.3 % vs. 68.3 ± 4.4 %, p ≤ 0.05), and smaller LV end-systolic volume index (21.4 ± 4.4 ml/m(2) vs. 23.7 ± 5.8 ml/m(2), p ≤ 0.05). Other morphologic measurements (LV angles, sphericity index, and eccentricity index) were not different between G + LVH- and controls. CONCLUSIONS: Septal convexity is an additional previously undescribed feature of subclinical HCM

How a typical West African day in the future-climate compares with current-climate conditions in a convection-permitting and parameterised convection climate model

Current-climate precipitation and temperature extremes have been identified by decision makers in West Africa as among the more impactful weather events causing lasting socioeconomic damage. In this article, we use a plausible future-climate scenario (RCP8.5) for the end of the twenty-first century to explore the relative commonness of such extremes under global warming. The analysis presented considers what a typical day in the future climate will feel like relative to current extrema. Across much of West Africa, we see that the typical future-climate day has maximum and minimum temperatures greater than 99.5% of currently experienced values. This finding exists for most months but is particularly pronounced during the Boreal spring and summer. The typical future precipitation event has a daily rainfall rate greater than 95% of current storms. These findings exist in both a future scenario model run with and without parameterised convection, and for many of the Coupled Model Inter-comparison Project version 5 ensemble members. Additionally, agronomic monsoon onset is projected to occur later and have greater inter-annual variability in the future. Our findings suggest far more extreme conditions in future climate over West Africa. The projected changes in temperature and precipitation could have serious socioeconomic implications, stressing the need for effective mitigation given the potential lack of adaptation pathways available to decision makers

Update on hypertrophic cardiomyopathy and a guide to the guidelines

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment. Disease-related mortality is most often attributable to sudden cardiac death, heart failure, and embolic stroke. The majority of individuals with HCM, however, have normal or near-normal life expectancy, owing in part to contemporary management strategies including family screening, risk stratification, thromboembolic prophylaxis, and implantation of cardioverter-defibrillators. The clinical guidelines for HCM issued by the ACC Foundation/AHA and the ESC facilitate evaluation and management of the disease. In this Review, we aim to assist clinicians in navigating the guidelines by highlighting important updates, current gaps in knowledge, differences in the recommendations, and challenges in implementing them, including aids and pitfalls in clinical and pathological evaluation. We also discuss the advances in genetics, imaging, and molecular research that will underpin future developments in diagnosis and therapy for HCM

Left-Sided Patent Ductus Arteriosus in a Right-Sided Aortic Arch

We present a 31-year-old female with repaired tetralogy of Fallot (TOF) and right-sided aortic arch (RAA) with left-sided patent ductus arteriosus (PDA) originating from the left brachiocephalic artery. This is a rare finding but most common site for a PDA in TOF and a RAA. To the best of our knowledge, this is the first demonstration of this rare finding on MRI in the literature.link_to_OA_fulltex

Left Atrial Dysfunction in Patients with Anderson - Fabrys Disease using Magnetic Resonance Imaging Derived Left Atrial Phasic Function

Imaging ; Session Title: Magnetic Resonance Imaging (MRI): Practice Issues / Arrhythmia