Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing

Andrés Felipe Barragán-Amado; Jaime A Parra; María C Manzur; Julian A Gelves-Meza; Claudia P Jaimes; María F Tamayo; Héctor M Medina; María Juliana Rodríguez-González

doi:10.20944/preprints202306.0239.v1

How to cite: Barragán-Amado, A.F.; Parra, J.A.; Manzur, M.C.; Gelves-Meza, J.A.; Jaimes, C.P.; Tamayo, M.F.; Medina, H.M.; Rodríguez-González, M.J. Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing. Preprints 2023, 2023060239. https://doi.org/10.20944/preprints202306.0239.v1 Barragán-Amado, A.F.; Parra, J.A.; Manzur, M.C.; Gelves-Meza, J.A.; Jaimes, C.P.; Tamayo, M.F.; Medina, H.M.; Rodríguez-González, M.J. Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing. Preprints 2023, 2023060239. https://doi.org/10.20944/preprints202306.0239.v1

Abstract

A 52-y/o asymptomatic male with history of hypertension, was referred to our Heart Failure Clinic due to report of hypertrophic cardiomyopathy, TTE with an increased end-diastolic thick-ness (basal inferoseptal of 23 mm, and basal anteroseptal of 21 mm). CMR demonstrated late gadolinium enhancement at the septum, anterior, inferolateral, and inferior walls with a mid-myocardial distribution, T1 mapping which reported an average T1 of 929 ms. A next-generation sequencing panel was requested. Results demonstrated hemizygosis, in the ga-lactosidase alpha gene, consistent with Fabry Disease. The replacement of the enzyme was start-ed. Extended familial genetic counseling and testing were done.

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Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing

Abstract

Keywords

Subject

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