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    Multimodality Imaging in Cardiomyopathies
    (2024) Babur Güler, Gamze; Gürsoy, Mustafa Ozan; Tan Kürklü, Türkan Seda; Yakar Tülüce, Selcen; Karaca Özer, Pelin; Karabulut, Dilay; Hatipoğlu, Suzan
    Cardiomyopathy, which is shortly defined as a disease of the myocardium, has a broad definition that includes many different diagnoses. Recent advances in cardiac imaging techniques, including basic and advanced echocardiography, computed tomography, nuclear medicine, and cardiac magnetic resonance, allow for a more accurate evaluation of volumes and thickness of cardiac chambers, systolic and diastolic function of the ventricules, and tissue structure. Multimodality imaging often provides the first clinical suspicion for specific etiologies, especially when the medical and family history is unclear, by identification of red flags of underlying systemic diseases. In this review, we aimed to evaluate the role of multimodality imaging in diagnosis of cardiomyopathies with key images and discussed the effects of genetics on the diagnostic, prognostic, and therapeutic guidance of cardiomyopathies.
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    Öğe
    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye
    (Kare Publ, 2023) Oktay, Veysel; Tufekcioglu, Omac; Yilmaz, Dilek Cicek; Onrat, Ersel; Karabulut, Dilay; Celik, Murat; Balcioglu, Akif Serhat
    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Turkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.