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LDLR Variant Severity Score Calculator

LDLR Variant Severity Score: Explanation and Clinical Context The LDLR Variant Severity Score is a tool developed to predict phenotypic severity in patients with familial hypercholesterolemia (FH) based on LDLR genetic variant type, LDL-C level, and the presence of tendon xanthomas. This scoring system integrates functional classification of LDLR variants (null, defective, or mild), biochemical phenotype (LDL-C conce

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LMNA Mutation Risk Model (SCD in DCM) Calculator

LMNA Mutation Risk Model (Sudden Cardiac Death in DCM): Explanation and Clinical Context The LMNA Mutation Risk Model predicts the 5-year risk of sudden cardiac death (SCD) in patients with dilated cardiomyopathy (DCM) carrying LMNA gene mutations. Key predictors include the presence of non-sustained ventricular tachycardia (NSVT), reduced left ventricular ejection fraction (LVEF < 45%), male sex, and the presence of