Version 1
: Received: 30 May 2023 / Approved: 5 June 2023 / Online: 5 June 2023 (05:02:25 CEST)
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. Preprints2023, 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
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. Preprints2023, 2023060239. https://doi.org/10.20944/preprints202306.0239.v1
APA Style
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. (2023). Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing. Preprints. https://doi.org/10.20944/preprints202306.0239.v1
Chicago/Turabian Style
Barragán-Amado, A. F., Héctor M Medina and María Juliana Rodríguez-González. 2023 "Optimal Evaluation of Left Ventricular Hypertrophic Phenotype Using Parametric CMR Mapping and Genetic Testing" Preprints. 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.
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.