Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

Escobar-López, Luis; Ochoa, Juan Pablo; Royuela, Ana; Verdonschot, Job A.J.; Ferro, Matteo Dal; Espinosa, María Ángeles; Sabater-Molina, María; Gallego‐Delgado, María; Larrañaga‐Moreira, José M.; García‐Pinilla, José Manuel; Basurte-Elorz, M. Teresa; Rodríguez-Palomares, José F.; Climent, Vicente; Bermúdez-Jiménez, Francisco; Mogollón-Jiménez, María Victoria; López, Javier; Peña-Peña, María Luisa; García‐Álvarez, Ana; López-Abel, Bernardo; Ripoll‐Vera, Tomás; Palomino-Doza, Julián; Bayés‐Genís, Antoni; Brugada, Ramón; Idiazabal, Uxua; Mirelis, J. González; Domínguez, Fernándo; Henkens, Michiel T.H.M.; Krapels, Ingrid P.C.; Brunner, Han G.; Paldino, Alessia; Zaffalon, Denise; Mestroni, Luisa; Sinagra, Gianfranco; Heymans, Stéphane; Merlo, Marco; García‐Pavía, Pablo

doi:10.1016/j.jacc.2022.06.040

Cited by 37 publications

(29 citation statements)

References 27 publications

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“…The authors found multiple independent predictors of a positive genetic test: a family history of DCM, low ECG voltage in peripheral leads, skeletal myopathy, the absence of hypertension, and the absence of LBBB. In addition, the score predicted a probability of a positive test result ranging from 3% when none of these factors was present to 79% when four or more factors were present [ 54 ].…”

Section: Risk Stratification and Prognosismentioning

confidence: 99%

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

Ferreira

Antunes

et al. 2023

Biomedicines

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Dilated cardiomyopathy (DCM) represents one of the most common causes of non-ischemic heart failure, characterised by ventricular dilation alongside systolic dysfunction. Despite advances in therapy, DCM mortality rates remain high, and it is one of the leading causes of heart transplantation. It was recently recognised that many patients present minor structural cardiac abnormalities and express different arrhythmogenic phenotypes before overt heart-failure symptoms. This has raised several diagnostic and management challenges, including the differential diagnosis with other phenotypically similar conditions, the identification of patients at increased risk of malignant arrhythmias, and of those who will have a worse response to medical therapy. Recent developments in complementary diagnostic procedures, namely cardiac magnetic resonance and genetic testing, have shed new light on DCM understanding and management. The present review proposes a comprehensive and systematic approach to evaluating DCM, focusing on an improved diagnostic pathway and a structured stratification of arrhythmic risk that incorporates novel imaging modalities and genetic test results, which are critical for guiding clinical decision-making and improving outcomes.

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Section: Risk Stratification and Prognosismentioning

confidence: 99%

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

Ferreira

Antunes

et al. 2023

Biomedicines

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“…A novel risk score (Madrid Genotype Score in identification of patients with high probability of genetic DCM. 14 Some of those patients might benefit from an earlier implantable cardioverter-defibrillator (ICD) implantation due to the inherited higher risk for SCD.…”

Section: Treatment Perspectives Of the Genetic Background Disease Mod...mentioning

confidence: 99%

“…Based on readily available predictors (i.e. family history of DCM, absence of hypertension, skeletal muscle disease, absence of left bundle branch block, and low QRS voltage in peripheral electrocardiographic leads), the score has demonstrated good performance in identification of patients with high probability of genetic DCM 14 . Some of those patients might benefit from an earlier implantable cardioverter‐defibrillator (ICD) implantation due to the inherited higher risk for SCD.…”

Section: Dilated Cardiomyopathymentioning

confidence: 99%

State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

Seferović

Polovina

Rosano

et al. 2023

European J of Heart Fail

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“…Furthermore, a recent study reported that not only LMNA gene mutations, but also DSP , PKP2 , and FLNC gene mutations in DCM cases are likely to cause sudden death and ventricular arrhythmia ( 19 ), supporting the usefulness of genetic testing in the clinical testing. Integrated analysis of gene mutations and detailed clinical features revealed that independent predictors of pathogenic mutation-positive were family history of DCM, low electrocardiogram voltage in peripheral leads, skeletal myopathy, absence of hypertension, and absence of left bundle branch block ( 20 ). In the future, further progress will be made in research that comprehensively analyzes genotypes and phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy

Nomura

Ōno²

2023

Front. Cardiovasc. Med.

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Cardiomyopathy develops through an interaction of genetic and environmental factors. The clinical manifestations of both dilated cardiomyopathy and hypertrophic cardiomyopathy are diverse, but genetic testing defines the causative genes in about half of cases and can predict clinical prognosis. It has become clear that cardiomyopathy is caused not only by single rare variants but also by combinations of multiple common variants, and genome-wide genetic research is important for accurate disease risk assessment. Single-cell analysis research aimed at understanding the pathophysiology of cardiomyopathy is progressing rapidly, and it is expected that genomic analysis and single-cell molecular profiling will be combined to contribute to more detailed stratification of cardiomyopathy.

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Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

Cited by 37 publications

References 27 publications

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy

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