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Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

Lookup NU author(s): Professor Djordje JakovljevicORCiD, Dr Nduka OkwoseORCiD, Dr Paul Brennan, Dr Guy MacGowanORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2020, The Author(s).Background: Hypertrophic 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 β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations. Methods: As a part of the international multidisciplinary SILICOFCM project ( 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. Results: The 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 (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/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.

Publication metadata

Author(s): Velicki L, Jakovljevic DG, Preveden A, Golubovic M, Bjelobrk M, Ilic A, Stojsic S, Barlocco F, Tafelmeier M, Okwose N, Tesic M, Brennan P, Popovic D, Ristic A, MacGowan GA, Filipovic N, Maier LS, Olivotto I

Publication type: Article

Publication status: Published

Journal: BMC Cardiovascular Disorders

Year: 2020

Volume: 20

Issue: 1

Online publication date: 09/12/2020

Acceptance date: 02/12/2020

Date deposited: 18/03/2021

ISSN (electronic): 1471-2261

Publisher: BioMed Central Ltd


DOI: 10.1186/s12872-020-01807-4


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Funder referenceFunder name
SILICOFCM project which received funding from the European Union’s Horizon 2020 Research and Innovation Programme under Grant Agreement No. 777204