Browsing by Subject "Cardiomyopathy, Hypertrophic"

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    Hypertrophic cardiomyopathy: Pathological features and molecular pathogenesis
    (2004) Çam F.S.; Cüray M.
    Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic cardiac disorder with various genotypic and phenotypic manifestations, and is often a diagnostic challenge. Although more than forty years have passed since the first description of HCM, a variety of mutations in genes encoding sarcomeric proteins, that cause the disease have been defined by laboratory and clinical studies over the past few years. The fact that HCM is the most common cause of sudden death in young competitive athletes and that it is actually an important cause of morbidity and mortality in people of all ages, has made the researchers to concentrate more on the molecular basis and treatment strategies of the disease. This study aims to summarize both pathological features and rapidly evolving molecular genetics of HCM, and so to understand this not infrequently seen, complex disorder better.
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    Hypertrophic cardiomyopathy: The pathological features and the molecular pathogenesis (multiple letters) [4]
    (2005) Davutoǧlu V.; Çam F.S.; Güray M.
    [No abstract available]
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    Increased mean platelet volume in hypertrophic cardiomyopathy
    (SAGE Publications Inc., 2014) Icli A.; Aksoy F.; Dogan A.; Arslan A.; Akcay S.; Yücel H.; Ersoy I.; Gorgulu O.
    Thromboembolic events may be seen in patients with hypertrophic cardiomyopathy (HCM). We investigated the mean platelet volume (MPV), an indicator of platelet activation in patients with HCM. This study included 112 patients with HCM, in which 40 were patients with hypertrophic obstructive cardiomyopathy (HOCM), and 106 were control participants. The MPV was significantly higher in patients with HCM than in controls (9.1 ± 0.3 vs 7.9 ± 0.3 fL, P =.01). In the subgroup analyses, MPV was also higher in patients with HOCM compared to those with hypertrophic nonobstructive cardiomyopathy (HNCM; 9.3 ± 0.3 vs 9.0 ± 0.2 fL, P =.01). Similarly, patients with HNCM had higher MPV values than controls (9.0 ± 0.2 vs 7.9 ± 0.3 fL, P =.01). The MPV was significantly and positively correlated with left ventricular outflow tract (LVOT) obstruction (r =.42, P =.001) and septal thickness (r =.62, P =.001). In linear regression analysis, MPV was independently associated only with septal thickness (β =.07, 95% confidence interval: 0.04-0.09, P =.001). The MPV can be elevated in patients with HCM regardless of the obstruction of LVOT and may be associated with the severity of septal thickness. © The Author(s) 2013.
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    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
    (Turkish Society of Cardiology, 2023) Oktay V.; Tüfekçioğlu O.; Yılmaz D.Ç.; Onrat E.; Karabulut D.; Çelik M.; Balcıoğlu A.S.; Sucu M.M.; Özdemir G.; Kaya H.; Kış M.; Güven B.; Bağdatoğlu O.; Çağlar F.N.T.; Yüksel U.Ç.; Düzen İ.V.; Barutçu A.; Şimşir Ö.S.; Başarıcı İ.; Parspur A.; Dalgıç O.; Özlük F.Ö.A.; Evlice M.; Sağ S.; Deniz M.F.; Öcal A.; Gazi E.; Şen T.; Özdabakoğlu O.; Çakıcı N.B.; Bakır E.O.; Kunak A.Ü.; Çaylı G.; Taşdelen A.G.; Akşit E.; Çil Ş.U.; Onay H.
    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 Türkiye. 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. Copyright@Author(s) - Available online at anatoljcardiol.com.