Myocardial deformation in the early diagnosis of subclinical disease in relatives of patients with genetic cardiomyopathy.
DOI:
https://doi.org/10.37615/retic.v6n3a4Keywords:
arrhythmogenic cardiomyopathy, family screening, myocardial deformationAbstract
Familial screening for genetic cardiomyopathies in asymptomatic relatives of index cases, as well as early detection of disease expression in asymptomatic relatives carrying the mutation, can be a clinical challenge. In this scenario, myocardial deformation analysis by speckle tracking may reveal early signs of underlying subclinical disease in relatives of patients with dilated, arrhythmogenic or hypertrophic cardiomyopathy. We present the clinical case of an asymptomatic young woman, referred for family screening for heart disease, with normal ECG and conventional echocardiogram, where the study of myocardial deformation allowed an early diagnosis of the underlying heart disease.
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Copyright (c) 2023 Gianluca De Toffol, Alberto Cecconi, Paloma Caballero, Fernando Alfonso, Luis Jesús Jiménez Borreguero
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