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1.
Genet Med ; 25(3): 100341, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36472615

RESUMEN

PURPOSE: Despite its clinical implications in screening and therapy, genetic testing in dilated cardiomyopathy (DCM) is underused. This study evaluated implementing a practice intervention in a heart failure clinic to automate and streamline the process of genetic testing. METHODS: Eligible patients with DCM were compared for frequency of pretest genetic education and testing during pre- and postintervention periods. The intervention comprised automated prescheduling of a cardiovascular genomics e-consult that served as a placeholder for downstream, pretest education, testing, and post-test review of genetic results. RESULTS: Patients with DCM were more likely to undergo pretest genetic education after intervention than before intervention (33.5% vs 14.8%, P < .0001). Similarly, patients with DCM were more likely to undergo genetic testing after intervention than before intervention (27.3% vs 13.0%, P = .0006). The number of patients who were diagnosed to have likely pathogenic or pathogenic genetic variants were 2 of 21 (9.5%) and 6 of 53 (11.1%) before and after intervention, respectively, and variants were present in the following genes: FLNC, TTN, DES, LMNA, PLN, and TNNT2. CONCLUSION: An intervention strategy in a heart failure clinic to increase the rates of pretest genetic education and testing in eligible patients with DCM was feasible and efficacious and may have important implications for the management of DCM.


Asunto(s)
Cardiomiopatía Dilatada , Insuficiencia Cardíaca , Humanos , Cardiomiopatía Dilatada/diagnóstico , Cardiomiopatía Dilatada/genética , Pruebas Genéticas/métodos , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/genética , Corazón
2.
JACC Case Rep ; 15: 101840, 2023 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-37283829

RESUMEN

Chimeric antigen receptor T-cell (CAR-T) therapy has revolutionized the management of aggressive hematologic malignancies. However, its role in patients with lymphoma and cardiac metastasis or cardiomyopathy remains undefined due to potentially life-threatening complications such as ventricular rupture, cardiac tamponade, and circulatory failure. We present a case series of patients with lymphoma and cardiomyopathy or cardiac metastasis managed with chimeric antigen receptor T-cell therapy. (Level of Difficulty: Advanced.).

3.
Methodist Debakey Cardiovasc J ; 17(3): 18-23, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34824674

RESUMEN

A 61-year-old man presented to the emergency room with lower extremity edema. Physical exam was only remarkable for a diastolic murmur in the right carotid area and left lower extremity edema. Venous Doppler revealed a deep venous thrombosis in the left lower extremity. Chest computed tomography (CT) with intravenous contrast ruled out pulmonary embolism but showed a mediastinal mass adjacent to the pericardium. Further imaging with cardiac magnetic resonance imaging (CMR) and cardiac CT angiography (CCTA) enabled localization and evaluation of the structural characteristics of the mass. The decision was made to excise the mass due to increasing size compared with its measurements on prior chest CTs and a high degree of vascularization seen on CMR and CCTA, which was concerning for an enlarging arteriovenous malformation or a hemangioma. However, histopathologic analysis of the mass revealed it to be a micronodular thymoma.


Asunto(s)
Timoma , Neoplasias del Timo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pericardio/diagnóstico por imagen , Timoma/diagnóstico por imagen , Timoma/cirugía , Neoplasias del Timo/diagnóstico por imagen , Neoplasias del Timo/cirugía , Tomografía Computarizada por Rayos X
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