Prognostic value of two polymorphisms in non-sarcomeric genes for the development of atrial fibrillation in patients with hypertrophic cardiomyopathy

Orenes‐Piñero, Esteban; Hernández-Romero, Diana; Romero‐Aniorte, Ana I.; Martínez, Marcelino Álvarez; García-Honrubia, Antonio; Caballero, Luis; Garrigos-Gómez, Noemí; Andreu-Cayuelas, José M.; González, J. M. Rodríguez; Feliu, Eloísa; Climent, Vicente; Nicolás-Ruiz, Francisco; Morena, Gonzalo de la; Valdés, Mariano; Lip, Gregory Y.H.; Marı́n, Francisco

doi:10.1093/qjmed/hcu046

Cited by 11 publications

(11 citation statements)

References 30 publications

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“…The findings of the present study as well as previous results from our group [17] highlight the importance of nonsarcomeric genes in the pathophysiology, severity and prognosis of HCM. In both studies, we selected clinically stable HCM patients, but the study designs and end-points and the data analyses were different in the two studies, and therefore, the inclusion of the new data within our previous publication was not possible.…”

Section: Discussionsupporting

confidence: 88%

Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

et al. 2015

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Aims Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy and fibrosis. HCM is an autosomal‐dominant disease caused by more than 400 mutations in sarcomeric genes. Changes in nonsarcomeric genes contribute to its phenotypic heterogeneity. Cardiac fibrosis can be studied using late gadolinium enhancement (LGE) cardiac magnetic resonance imaging. We evaluated the potential role of two polymorphisms in nonsarcomeric genes on interstitial fibrosis in HCM. Materials and methods Two polymorphisms in nonsarcomeric genes [ACE (deletion of 287 bp in the 16th intron) and RETN (−420C>G)] were analysed in 146 HCM patients. Cardiac fibrosis was assessed using LGE to determine the number of affected segments. Results Allelic frequencies in ACE and RETN polymorphisms were consistent with the Hardy–Weinberg equilibrium (both P > 0.05). We found that the presence of the polymorphic allele in the −420C>G RETN polymorphism was independently associated with the number of affected segments of LGE (P = 0.038). Increased circulating resistin concentration, measured by enzyme‐linked immunosorbent assay, was associated with a higher degree of cardiac fibrosis. Myocardial fibrosis, assessed by Masson's trichrome staining, was associated with the −420C>G RETN polymorphism in 46 tissue samples obtained by septal myectomy (P = 0.044). Conclusions The −420C>G RETN polymorphism was independently associated with the degree of cardiac fibrosis, assessed by LGE, in patients with HCM. In addition, there was an association between the polymorphism and the circulating resistin levels as well as with myocardial fibrosis in tissues obtained by myectomy. Investigating the physiological implication of the RETN polymorphism in HCM in combination with the use of imaging technologies might help to establish the severity of disease in patients with HCM.

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Section: Discussionsupporting

confidence: 88%

Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

et al. 2015

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“…17 Even polymorphisms in nonsarcomeric genes, encoding for proteins involved in the renin-angiotensin-aldosterone system and collagen synthesis, have shown to act as HCM disease modifiers, increasing the likelihood of AF development. 18 Therefore, it is not unexpected that AF often complicates the natural course of HCM, translating into a significant morbidity and mortality burden.…”

Section: Discussionmentioning

confidence: 99%

Left Atrial Size and Function in Hypertrophic Cardiomyopathy Patients and Risk of New-Onset Atrial Fibrillation

Debonnaire

Joyce

Hiemstra

et al. 2017

Circ: Arrhythmia and Electrophysiology

138

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Background— The value of left atrial (LA) diameter, volume, and strain to risk stratify hypertrophic cardiomyopathy patients for new-onset atrial fibrillation (AF) was explored. Methods and Results— A total of 242 hypertrophic cardiomyopathy patients without AF history were evaluated by (speckle-tracking) echocardiography. During mean follow-up of 4.8±3.7 years, 41 patients (17%) developed new-onset AF. Multivariable analysis showed LA volume (≥37 mL/m 2 ; hazard ratio, 2.68; 95% confidence interval, 1.30–5.54; P =0.008) and LA strain (≤23.4%; hazard ratio, 3.22; 95% confidence interval, 1.50–6.88; P =0.003), but not LA diameter (≥45 mm; hazard ratio, 1.67; 95% confidence interval, 0.84–3.32; P =0.145), as independent AF correlates. Importantly, 59% (n=24) of AF events occurred despite a baseline LA diameter <45 mm, observed in 185 patients. In this patient subset, LA strain (area under the curve 0.73) and LA volume (area under the curve 0.83) showed good predictive value for new-onset AF. Furthermore, patients with LA volume <37 versus ≥37 mL/m 2 and LA strain >23.4% versus ≤23.4% had superior 5-year AF-free survival of 93% versus 80% ( P =0.003) and 98% versus 74% ( P =0.002), respectively. Importantly, LA volume <37 mL/m 2 and strain >23.4% yielded high negative predictive value (93% and 98%, respectively) for new-onset AF. Likelihood ratio test indicated incremental value of LA volume assessment ( P =0.011) on top of LA diameter to predict new-onset AF in hypertrophic cardiomyopathy patients with LA diameter <45 mm, which tended to increase further by addition of LA strain ( P =0.126). Conclusions— LA diameter, volume, and strain all relate to new-onset AF in hypertrophic cardiomyopathy patients. In patients with normal LA size, however, both LA volume and strain further refine risk stratification for new-onset AF.

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“…The Orenes-Pinero et al study did not contain available genotype data in AF cases for estimating an OR and 95% CI. 22 This study was excluded from this meta-analysis. Ten studies were conducted in various populations of different ethnicities: eight studies were conducted in Chinese populations, one study was in an African American population, 21 and one study was in a Caucasian population.…”

Section: Study Characteristicsmentioning

confidence: 99%

Relationship between CYP11B2-344T>C polymorphsim and atrial fibrillation: A meta-analysis

Zhong

et al. 2014

J Renin Angiotensin Aldosterone Syst

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Prognostic value of two polymorphisms in non-sarcomeric genes for the development of atrial fibrillation in patients with hypertrophic cardiomyopathy

Cited by 11 publications

References 30 publications

Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

Left Atrial Size and Function in Hypertrophic Cardiomyopathy Patients and Risk of New-Onset Atrial Fibrillation

Relationship between CYP11B2-344T>C polymorphsim and atrial fibrillation: A meta-analysis

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