Academic Journal
Genetic Testing for Patients with Cardiomyopathies: The INDACO Study—Towards a Cardiogenetic Clinic
| العنوان: | Genetic Testing for Patients with Cardiomyopathies: The INDACO Study—Towards a Cardiogenetic Clinic |
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| المؤلفون: | Matteo Bianco, Noemi Giordano, Valentina Gazzola, Carloalberto Biolè, Giulia Nangeroni, Maurizio Lazzero, Giulia Margherita Brach del Prever, Fiorenza Mioli, Giulia Gobello, Amir Hassan Mousavi, Monica Guidante, Silvia Deaglio, Daniela Francesca Giachino, Alessandra Chinaglia |
| المصدر: | Cardiogenetics, Vol 14, Iss 3, Pp 122-131 (2024) |
| بيانات النشر: | MDPI AG, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Diseases of the circulatory (Cardiovascular) system |
| مصطلحات موضوعية: | cardiomyopathies, genetic testing, next generation sequencing (NGS), Diseases of the circulatory (Cardiovascular) system, RC666-701 |
| الوصف: | Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene panels that can offer “clinically actionable results”, which provide diagnostic and prognostic insights. They also advise against indiscriminate family screening after finding variants of uncertain significance (VUS) and recommend collaboration among multidisciplinary teams for an accurate variant pathogenicity assessment. This article presents an innovative “cardiogenetic clinic” approach involving cardiologists and medical geneticists to provide genetic testing and family screening. This study attempts to improve the diagnostic process for suspected genetic cardiomyopathies; this includes direct patient recruitment during cardiology appointments, NGS analysis, and combined consultations with cardiologists and geneticists to assess the results and screen the families. The study cohort of 170 patients underwent genetic testing, which identified 78 gene variants. Positive results (C4 or C5 variants) occurred in 20 (19.8%) cases, with rates varying by cardiomyopathy phenotype, while 57 (73.1%) of the variants found were classified as C3-VUS, causing a significant management issue. This model shortened the time to results, increased patient adherence, and improved patients’ diagnoses. Family screening was pondered depending on the relevance of the detected variants, showing this method’s potential to impact patient management. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2035-8148 2035-8253 |
| Relation: | https://www.mdpi.com/2035-8148/14/3/10; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148 |
| DOI: | 10.3390/cardiogenetics14030010 |
| URL الوصول: | https://doaj.org/article/312ae3aa402e4e2ca8aa6ae436e2d5f3 |
| رقم الانضمام: | edsdoj.312ae3aa402e4e2ca8aa6ae436e2d5f3 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 20358148 20358253 |
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| DOI: | 10.3390/cardiogenetics14030010 |