TY - JOUR
T1 - A comprehensive evaluation of myocardial fibrosis in hypertrophic cardio myopathy with cardiacmagnetic resonance imaging
T2 - Linking genotype with fibrotic phenotype
AU - Ellims, Andris H.
AU - Iles, Leah M.
AU - Ling, Liang-Han
AU - Chong, Belinda
AU - Macciocca, Ivan
AU - Slavin, Glenn S.
AU - Hare, James L.
AU - Kaye, David M.
AU - Marasco, Silvana F.
AU - McLean, Catriona A.
AU - James, Paul A.
AU - Du Sart, Desirée
AU - Taylor, Andrew J.
PY - 2014/10
Y1 - 2014/10
N2 - Aims In hypertrophic cardio myopathy (HCM), attempts to associate genotype with phenotype have largely been unsuccessful. More recently, cardiac magnetic resonance(CMR)imaging has enhancedmyocardial fibrosis characterization, while nextgeneration sequencing (NGS) can identify pathogenic HCM mutations. We used CMR and NGS to explore the link between genotype and fibrotic phenotype in HCM. Methods and results Onehund red and thirty-nine patients with HCM and 25 healthy control sunder went CMR to quantify regional myocardial fibrosis with late gadolinium enhancement (LGE) and diffuse myocardial fibrosis with post-contrast T1 mapping.Collagen content of myecto my specimens from nine HCM patients was determined. Fifty-six HCM patients under went NGS for 65 cardio myopathy genes, including 36 HCM-associated genes. Post-contrast myocardial T1 time correlated histologi cally with myocardial collagen content (r = 20.70, P = 0.03). Compared with controls, HCM patients had more LGE (4.6±6.1 vs. 0%, P< 0.001) and lower post-contrast T1 time (483±83 vs. 545±49 ms, P < 0.001). LGE negatively correlated with left-ventricular (LV) ejection fraction and outflow tract obstruction, whereas lower post-contrast T1 time, suggestive of more diffuse myocardial fibrosis, was associated with LV diastolic impairment and dyspnoea. Patients with identifiable HCM mutations had more LGE (7.9±8.6 vs. 3.1±4.3%, P = 0.03), but higher post-contrast T1 time (498±81 vs. 451±70 ms, P = 0.03) than patients without. Conclusion InHCM,contrast-enhancedCMRwithT1 mapping can non-invasively evaluate regional and diffuse patterns ofmyocardial fibrosis. These patterns of fibrosis occur independently of each other and exhibit distinct clinical associations. HCM patients with recognized genetic mutations have significantly more regional, but less diffuse myocardial fibrosis than those without. Published on behalf of the European Society of Cardiology. All rights reserved.
AB - Aims In hypertrophic cardio myopathy (HCM), attempts to associate genotype with phenotype have largely been unsuccessful. More recently, cardiac magnetic resonance(CMR)imaging has enhancedmyocardial fibrosis characterization, while nextgeneration sequencing (NGS) can identify pathogenic HCM mutations. We used CMR and NGS to explore the link between genotype and fibrotic phenotype in HCM. Methods and results Onehund red and thirty-nine patients with HCM and 25 healthy control sunder went CMR to quantify regional myocardial fibrosis with late gadolinium enhancement (LGE) and diffuse myocardial fibrosis with post-contrast T1 mapping.Collagen content of myecto my specimens from nine HCM patients was determined. Fifty-six HCM patients under went NGS for 65 cardio myopathy genes, including 36 HCM-associated genes. Post-contrast myocardial T1 time correlated histologi cally with myocardial collagen content (r = 20.70, P = 0.03). Compared with controls, HCM patients had more LGE (4.6±6.1 vs. 0%, P< 0.001) and lower post-contrast T1 time (483±83 vs. 545±49 ms, P < 0.001). LGE negatively correlated with left-ventricular (LV) ejection fraction and outflow tract obstruction, whereas lower post-contrast T1 time, suggestive of more diffuse myocardial fibrosis, was associated with LV diastolic impairment and dyspnoea. Patients with identifiable HCM mutations had more LGE (7.9±8.6 vs. 3.1±4.3%, P = 0.03), but higher post-contrast T1 time (498±81 vs. 451±70 ms, P = 0.03) than patients without. Conclusion InHCM,contrast-enhancedCMRwithT1 mapping can non-invasively evaluate regional and diffuse patterns ofmyocardial fibrosis. These patterns of fibrosis occur independently of each other and exhibit distinct clinical associations. HCM patients with recognized genetic mutations have significantly more regional, but less diffuse myocardial fibrosis than those without. Published on behalf of the European Society of Cardiology. All rights reserved.
KW - Genotyping
KW - Hypertrophic cardio myopathy
KW - Magnetic resonance imaging
KW - Myocardial fibrosis
KW - T1 mapping
UR - http://www.scopus.com/inward/record.url?scp=84912091124&partnerID=8YFLogxK
U2 - 10.1093/ehjci/jeu077
DO - 10.1093/ehjci/jeu077
M3 - Article
C2 - 24819852
AN - SCOPUS:84912091124
SN - 2047-2404
VL - 15
SP - 1108
EP - 1116
JO - European Heart Journal - Cardiovascular Imaging
JF - European Heart Journal - Cardiovascular Imaging
IS - 10
ER -