Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.
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Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.
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C2675972 (UMLS CUI [1,1])
C0205091 (UMLS CUI [1,2])
C5232641 (UMLS CUI [1,3])
C0013516 (UMLS CUI [1,4])
C1142231 (UMLS CUI [1,5])
C0340427 (UMLS CUI [2,1])
C2322232 (UMLS CUI [2,2])
C1524062 (UMLS CUI [2,3])
C2322256 (UMLS CUI [2,4])