Design of the SILICOFCM study: Effect of sacubitril/valsartan vs lifestyle intervention on functional capacity in patients with hypertrophic cardiomyopathy

Tafelmeier, Maria; Baessler, Andrea; Wagner, Stefan; Unsoeld, Bernhard; Preveden, Andrej; Barlocco, Fausto; Tomberli, Alessia; Popović, Dejana; Brennan, Paul; MacGowan, Guy A.; Ristić, Arsen; Velicki, Lazar; Olivotto, Iacopo; Jakovljevic, Djordje G.; Maier, Lars S.

doi:10.1002/clc.23346

“…echocardiography) between different gene mutations, thus providing essential information for the computational model development. Moreover, data from this study will also complement the clinical trial (NCT03832660 at clinicaltrials.gov) evaluating the effects of pharmacological (sacubitril/valsartan) versus lifestyle intervention in HCM patients [14], also a fundamental part of the SILICOFCM project.…”

Section: Introductionmentioning

confidence: 92%

“…LV wall thickness and chamber dimensions were measured in the parasternal long-axis view [14,15]. LV myocardial mass was calculated using the Devereux formula [16] and then normalized for BSA.…”

Section: Echocardiographymentioning

confidence: 99%

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Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy 

Velicki

¹

,

Jakovljevic

²

,

Preveden

³

et al. 2020

Preprint

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0

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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 (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.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 caring 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.

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“…It will be interesting to see, how novel therapeutical approaches tested in early clinical trials may change the symptomatic burden of HCM patients, e.g. in the SILICOFCM study [39].…”

Section: Study Limitationsmentioning

confidence: 99%

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Velicki

¹

,

Jakovljevic

²

,

Preveden

³

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

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 (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.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 caring 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.

show abstract

“…It will be interesting to see, how novel therapeutical approaches tested in early clinical trials may change the symptomatic burden of HCM patients, e.g. in the SILICOFCM study [14].…”

Section: Study Limitationsmentioning

confidence: 99%

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy 

Velicki

¹

,

Jakovljevic

²

,

Preveden

³

et al. 2020

Preprint

Self Cite

0

View full text Add to dashboard Cite

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 (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.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 caring 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.

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Design of the SILICOFCM study: Effect of sacubitril/valsartan vs lifestyle intervention on functional capacity in patients with hypertrophic cardiomyopathy

Cited by 20 publications

References 41 publications

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

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Design of the SILICOFCM study: Effect of sacubitril/valsartan vs lifestyle intervention on functional capacity in patients with hypertrophic cardiomyopathy

Cited by 20 publications

References 41 publications

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy&nbsp;

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy&nbsp;

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy&nbsp;

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Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy