ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

Introduction And Objectives: Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain.

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

Background: Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis.

Objectives: This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up.

Methods: This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance.

Prevented Sudden Cardiac Death and Neurologic Recovery in Inherited Heart Diseases.

Inherited cardiovascular diseases are an important cause of sudden cardiac death (SD). The use of risk scores identify high risk patients who would benefit from an implantable cardioverter-defibrillators (ICDs). The development of automated devices for out-of-hospital cardiac arrest improves early resuscitation.

Reasons for refusing diagnostic tests and therapeutic recommendations and associated complications in inherited heart diseases. The RELUCTANT study.

Introduction And Objectives: Study of inherited heart diseases (IHD) involves performing diagnostic tests, which are sometimes inconvenient or stressful, in asymptomatic relatives. The aim of this study was to analyze refusal to undergo various diagnostic tests and follow therapeutic recommendations.

Methods: We assessed 1992 consecutive families with IHD to analyze refusal to undergo family screening.

Alcohol septal ablation in hypertrophic cardiomyopathy.

Alcohol septal ablation (ASA) has become an alternative to surgical myectomy in obstructive hypertrophic cardiomyopathy since it was first introduced in 1994 by Sigwart. The procedure alleviates symptoms by producing a limited infarction of the upper interventricular septum, resulting in a decrease in left ventricular outflow tract (LVOT) gradient. The technique has been improved over time and the results are comparable with those of myectomy.

Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population.

Background: Myocardial uptake of bone tracers has emerged as useful tool for the early detection of transthyretin amyloidosis (ATTR). The prevalence of wild-type ATTR (ATTRwt) in individuals remains to be established.

Methods: All whole body bone scans performed in individuals ≥ 75 years with no previous clinical suspicion of ATTR were revised in a population-based university hospital over a 7-year period (1509 studies corresponding to 1114 patients; 80.

Hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease.