Eloisa Arbustini

Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology

Dilated cardiomyopathy (DCM) frequently affects relatively young, economically, and socially active adults, and is an important cause of heart failure and transplantation. DCM is a complex disease and its pathological architecture encounters many genetic determinants interacting with environmental factors. The old perspective that every pathogenic gene mutation would lead to a diseased heart, is now being replaced by the novel observation that the phenotype depends not only on the penetrance-malignancy of the mutated gene-but also on epigenetics, age, toxic factors, pregnancy, and a diversity of acquired diseases. This review discusses how gene mutations will result in mutation-specific molecular alterations in the heart including increased mitochondrial oxidation (sarcomeric gene e.g. TTN), decreased calcium sensitivity (sarcomeric genes), fibrosis (e.g. LMNA and TTN), or inflammation. Therefore, getting a complete picture of the DCM patient will include genomic data, molecular assessment by preference from cardiac samples, stratification according to co-morbidities, and phenotypic description. Those data will help to better guide the heart failure and anti-arrhythmic treatment, predict response to therapy, develop novel siRNA-based gene silencing for malignant gene mutations, or intervene with mutation-specific altered gene pathways in the heart.This article is part of the Mini Review Series from the Varenna 2017 meeting of the Working Group of Myocardial Function of the European Society of Cardiology.

Simplified mitral valve repair in pediatric patients with connective tissue disorders

Background: In pediatric patients with connective tissue disorders (CTDs), early cardiac presentation often involves severe mitral regurgitation (MR) associated with severe bileaflet prolapse and, less frequently, aortic root enlargement. We adopted a simplified repair to address MR and prevent systolic anterior motion (SAM) in this unique group of patients. Materials and Methods: Retrospective review of clinical and echocardiographic data of all pediatric patients (age < 18 years) with CTD and MR undergoing simplified repair at 3 institutions (2000‐2014). Results: Eighteen children who underwent surgery for severe MR and bileaflet prolapse were identified. All were treated with ring annuloplasty and Alfieri edge‐to‐edge repair. Median age and weight were 8.2 years (range, 0.4‐17.2 years) and 24.9 kg (5.6‐63.3 kg), respectively. Median left ventricular end diastolic dimension median z score was 4.9 (2.1‐11.9). One patient died (5.6%), and there were no other major complications. Among survivors, 94.4% had mild regurgitation or less, with no stenosis or SAM at median clinical follow‐up of 2.4 years (range, 0‐13.9 years). Median left ventricular end‐diastolic dimension z score regressed to 1.3 (−0.5 to 4.3). Conclusions: In pediatric patients with CTD and severe MR, a simplified approach is associated with intermediate‐term competence, absence of SAM or significant stenosis, and regression of left ventricular enlargement.

Involvement of dermal microvascular basement membrane in senile purpura: quantitative immunohistochemical study

A. Lallas,* P.R. Chellini, M.G. Guimar~ aes, N. Cordeiro, Z. Apalla, C. Longo, E. Moscarella, R. Alfano, G. Argenziano Skin Cancer Unit, Arcispedale Santa Maria Nuova IRCCS, Reggio Emilia, Italy, Instituto de Dermatologia Professor Rubem David Azulay, Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil, First Department of Dermatology, Aristotle University, Thessaloniki, Greece, Department of Anesthesiology, Surgery and Emergency, Second University of Naples, Naples, Italy, Dermatology Unit, Second University of Naples, Naples, Italy *Correspondence: A. Lallas. E-mail: emlallas@gmail.com