A. Paldino

Impact of genetic testing on primary prevention ICD decision-making and clinical outcomes in dilated cardiomyopathy

Despite advances in clinical risk stratification, dilated cardiomyopathy (DCM) remains associated with a substantial risk of malignant ventricular arrhythmias and sudden cardiac death. Genetic testing may provide incremental value in arrhythmic risk assessment and primary prevention implantable cardioverter-defib...

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...

Genotype and arrhythmic risk in dilated cardiomyopathy.

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...

Arrhythmic Risk in Carriers of Predicted Deleterious Rare Variants in Dilated and Arrhythmogenic Cardiomyopathy Genes

PDrV carriers have a higher risk of severe cardiac events, even without a clinical overt disease phenotype at baseline evaluation, and PDrV in arrhythmic genes significantly influence SCD/MVA risk, regardless of phenotypic diagnosis of DCM.