Velicki, Lazar and Jakovljevic, Djordje G. and Preveden, Andrej and Golubovic, Miodrag and Bjelobrk, Marija and Ilic, Aleksandra and Stojsic, Snezana and Barlocco, Fausto and Tafelmeier, Maria and Okwose, Nduka and Tesic, Milorad and Brennan, Paul and Popovic, Dejana and Ristic, Arsen and MacGowan, Guy A. and Filipovic, Nenad and Maier, Lars S. and Olivotto, Iacopo (2020) Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy. BMC CARDIOVASCULAR DISORDERS, 20 (1): 516. ISSN 1471-2261,
Full text not available from this repository. (Request a copy)Abstract
BackgroundHypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and beta -myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.MethodsAs a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.ResultsThe most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.518.3 vs. 81.3 +/- 16.4 mu mol/l; p=0.487) and blood urea nitrogen (10.2 +/- 15.6 vs. 6.9 +/- 3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p=0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e ' ratio between the two groups was also noted (MYBPC3 8.8 +/- 3.3, MYH7 13.9 +/- 6.9, p=0.079).Conclusions Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CARDIOVASCULAR MAGNETIC-RESONANCE; 2011 ACCF/AHA GUIDELINE; ASSOCIATION TASK-FORCE; ATRIAL-FIBRILLATION; DIAGNOSIS; HEART; MUTATIONS; GENOTYPE; MYBPC3; PATHOGENESIS; Hypertrophic cardiomyopathy; HCM; Hereditary cardiac disease; Left ventricular hypertrophy; MYBPC3; MYH7 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin II |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 05 Mar 2021 07:58 |
| Last Modified: | 05 Mar 2021 07:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/43153 |
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