Hypertrophic cardiomyopathy (HCM) has traditionally been viewed as a monogenic disease. Increasing evidence, however, suggests that gene-elusive HCM constitutes a distinct subgroup. A clearer understanding of its natural history is essential to support tailored management strategies.
To characterise clinic...
P. M. Marin, K. Halim, P. Poveda et al.· European Heart Journal· 0 citations
Hypertrophic cardiomyopathy (HCM) has traditionally been viewed as a monogenic disorder. Increasing evidence indicates that gene-elusive HCM represents a distinct subgroup with differing clinical characteristics. Understanding its familial expression and natural history is essential to inform personalised managem...
P. M. Marin, K. Halim, P. Poveda et al.· European Heart Journal· 0 citations
Screening yield is driven by uptake levels and existing family history, supporting systematic phenotypic screening even when no causative genetic variant is detected, and clinical cascade screening identifies new diagnoses in a modest but clinically meaningful proportion of relatives.
P. M. Marin, D. Tardo, K. Halim et al.· European Heart Journal· 0 citations
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