Marco Merlo

Family Screening and Disease Predictors in Gene-Elusive Dilated Cardiomyopathy.

BACKGROUND Family screening is recommended in dilated cardiomyopathy (DCM), but risk stratification of relatives of probands without pathogenic or likely pathogenic variants (gene-elusive) remains uncertain. OBJECTIVES This study sought to define the incidence, prognosis, and predictors of disease development in firs...

Definition and Prognosis of Mitral Regurgitation in Transthyretin Amyloid Cardiomyopathy: A Multicenter International Cohort Study.

BACKGROUND In transthyretin amyloid cardiomyopathy, mitral regurgitation (MR) severity may be underestimated by conventional (semi-)quantitative echocardiographic criteria due to restrictive low-flow hemodynamics. We sought to define and validate disease-specific MR risk thresholds and compare their prognostic performa...

Genotype and arrhythmic risk in dilated cardiomyopathy.

Antiarrhythmic Drug Therapy in Cardiomyopathies: A Comparative Synthesis of Guidelines and Consensus Documents

Antiarrhythmic drug therapy in cardiomyopathies remains challenging because arrhythmic risk, drug efficacy, and pro-arrhythmic vulnerability vary substantially across phenotypes. This review summarizes contemporary guideline and consensus recommendations on antiarrhythmic drug use in hypertrophic, dilated, non-dilated...

A Hemodynamic Echocardiographic Approach to Disease Severity and Prognosis in Transthyretin Amyloid Cardiomyopathy

The noninvasive hemodynamic approach provides an alternative and promising method to stratify the risk of clinical outcome in patients with ATTR-CM, potentially improving management strategies.

Noninvasive Characterization of Myocardial Diseases With Hypertrophic Phenotypes Using Integrated ECG/Echocardiographic Indices.

BACKGROUND Indices reflecting the discordance between QRS complex voltages on ECG and left ventricular (LV) wall thickness or LV mass index on echocardiogram (echo) have enabled identification of cardiac amyloidosis (CA) among patients with hypertrophic hearts. However, this evidence comes from studies that have exclud...

Optimizing Screening Intervals for At-Risk Relatives of Dilated Cardiomyopathy Carrying a TTNtv.

BACKGROUND Cardiomyopathy guidelines recommend routine screening of at-risk relatives with dilated cardiomyopathy (DCM). Titin-truncating variants are the most prevalent cause. However, the diagnostic yield of screening is low. Risk-based stratification could optimize screening intervals and resource allocation. This s...

Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry.

BACKGROUND Atrial fibrillation (AF) is the most common arrhythmia in dilated cardiomyopathy (DCM) and is associated with adverse outcomes. However, the genetic determinants of AF risk and its prognostic significance across genotyped DCM subtypes remain unknown. METHODS In this observational cohort study, we analyzed...

Integrating genetics and phenotyping in clinical management of dilated and non-dilated left ventricular cardiomyopathy.

This review paper aims to provide a structured and evidence-informed framework to guide personalized management of DCM and NDLVC, starting from the phenotype towards precision medicine.

Pattern of use of conventional medical treatments of heart failure with reduced ejection fraction in end-stage hypertrophic cardiomyopathy.

While BB and RASi are commonly used in ES-HCM, MRA and SGLT2i are prescribed less frequently and in patients with a worse clinical profile, suggesting both clinical inertia and limitations inherent to the disease pathophysiology.

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.