The absence of left ventricular (LV) dilatation and systolic dysfunction, as assessed by LV ejection fraction (LVEF), in family members of genetically confirmed dilated cardiomyopathy (DCM) patients, carrying pathogenic (P) or likely pathogenic (LP) familial gene variants categorizes them as a subgroup called genotype-positive phenotype-negative (GEN+ PHEN−). Identifying GEN+ PHEN− who are at the highest risk of developing the disease throughout their lifetime is crucial.
Subclinical systolic dysfunction in genotype-positive phenotype-negative relatives of dilated cardiomyopathy patients: A systematic review and meta-analysis
Paldino, Alessia;Merlo, Marco;Sinagra, Gianfranco;
2024-01-01
Abstract
The absence of left ventricular (LV) dilatation and systolic dysfunction, as assessed by LV ejection fraction (LVEF), in family members of genetically confirmed dilated cardiomyopathy (DCM) patients, carrying pathogenic (P) or likely pathogenic (LP) familial gene variants categorizes them as a subgroup called genotype-positive phenotype-negative (GEN+ PHEN−). Identifying GEN+ PHEN− who are at the highest risk of developing the disease throughout their lifetime is crucial.File in questo prodotto:
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European J of Heart Fail - 2024 - Faggiano - Subclinical systolic dysfunction in genotype‐positive phenotype‐negative.pdf
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