UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement

Limongelli, G; Masarone, D; Frisso, G; Iacomino, M; Ferrara, I; Rea, A; Gravino, R; ... Pacileo, G; + view all (2016) Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement. Journal of Cardiovascular Medicine , 18 (4) pp. 249-254. 10.2459/JCM.0000000000000361. Green open access

[img]
Preview
Text
Elliott_JCM-D-15-00481_R1.pdf

Download (898kB) | Preview

Abstract

AIMS: Prevalence and clinical significance of right atrial enlargement (RAE) has been poorly characterized in hypertrophic cardiomyopathy. METHODS: One hundred and sixty consecutive patients with hypertrophic cardiomyopathy (35.5 ± 20 years; 64% men) were studied. They underwent clinical examination, standard ECG, M-mode, 2D and Doppler echocardiography, stress test and ECG Holter monitoring. Major adverse cardiac events were considered: cardiac death (sudden death, heart failure death); cardiac transplant; resuscitated cardiac arrest or appropriate implantable cardioverter defibrillator discharge. Genetic analysis of eight sarcomeric genes was performed using Sanger sequencing. RESULTS: RAE was observed in 22 patients (14%), associated with left atrial enlargement in all cases. Patients with RAE were likely to have restrictive mitral pattern (P < 0.001) and had higher New York Heart Association (P < 0.001), N-terminal prohormone of brain natriuretic peptide (P < 0.001), left atrial volume index (P < 0.001), lateral (P = 0.04) and septal (P = 0.002) E/e', systolic pulmonary artery pressure (P < 0.001) and lower ejection fraction (all P < 0.001). On cardiopulmonary exercise testing, peak VO2 was lower and VE/VCO2 higher in patients with RAE (P < 0.001). During a mean follow-up of 4 ± 2.1 years, 30 major adverse cardiac events in 24 patients (15%) were observed. Cox proportional hazards regression analysis identified RAE as an independent predictor of major adverse cardiac events (odds ratio = 2.6; confidence interval 1.5-4.6; P = 0.001). In patients with RAE who were genetically tested, there was a higher prevalence of sarcomeric gene mutations (68%), double mutations (16%) and troponin T mutations (21%). CONCLUSION: RAE is present in a small subset of patients with hypertrophic cardiomyopathy, and largely reflects increased pulmonary pressures because of severe diastolic and/or systolic left ventricular dysfunction. Patients with RAE had a higher prevalence of sarcomeric gene mutations, troponin T mutations and complex genotypes. In conclusion, RAE may serve as a very useful marker of disease progression and adverse outcome in patients with sarcomeric hypertrophic cardiomyopathy.

Type: Article
Title: Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.2459/JCM.0000000000000361
Publisher version: http://dx.doi.org/10.2459/JCM.0000000000000361
Language: English
Additional information: © 2016 Italian Federation of Cardiology. All rights reserved. This is a non-final version of an article published in final form in Limongelli, G; Masarone, D; Frisso, G; Iacomino, M; Ferrara, I; Rea, A; Gravino, R; (2016) Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement. Journal of Cardiovascular Medicine 10.2459/JCM.0000000000000361.
Keywords: Hypertrophic cardiomyopathy, right atrial enlargement, sarcomeric gene mutation
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/1497935
Downloads since deposit
119Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item