Cardiac Magnetic Resonance in Hypertrophic Cardiomyopathy

Desai, Milind Y.; Dhillon, Ashwat; To, Andrew

doi:10.1007/s11886-010-0149-y

Cited by 7 publications

(1 citation statement)

References 77 publications

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“…The high temporal and spatial resolution of CMR with superior intrinsic contrast allows more precise evaluation of myocardial morphology and reproducible quantitative assessment of ventricular volumes and function. [26][27][28][29] We found that patients with MYBPC3 variants were more likely to have impaired ventricular function compared to patients with MYH7 variants and had a trend towards an increase in arrhythmic events, with a higher proportion of patients receiving ICDs. Finally, we found that LGE burden was higher in patients with identifiable gene variants.…”

Section: Discussionmentioning

confidence: 67%

Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging

et al. 2019

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HCM is the most common inherited cardiomyopathy. Historically, there has been poor correlation between genotype and phenotype. However, CMR has the potential to more accurately assess disease phenotype. We characterized phenotype with CMR in a cohort of patients with confirmed HCM and high prevalence of genetic testing. Methods Patients with a diagnosis of HCM, who had undergone contrast-enhanced CMR were identified. Left ventricular mass index (LVMI) and volumes were measured from steady-state free precession sequences. Late gadolinium enhancement (LGE) was quantified using the full width, half maximum method. All patients were prospectively followed for the development of septal reduction therapy, arrhythmia or death. Results We included 273 patients, mean age 51.2 ± 15.5, 62.9% male. Of those patients 202 (74.0%) underwent genetic testing with 90 pathogenic, likely pathogenic, or rare variants and 13 variants of uncertain significance identified. Median follow-up was 1138 days. Mean LVMI was 82.7 ± 30.6 and 145 patients had late gadolinium enhancement (LGE). Patients with beta-myosin heavy chain (MYH7) mutations had higher LV ejection fraction (68.8 vs 59.1, p<0.001) than those with cardiac myosin binding protein C (MYBPC3) mutations. Patients with MYBPC3 mutations were more likely to have LVEF < 55% (29.7% vs 4.9%, p = 0.005) or receive a defibrillator than those with MYH7 mutations (54.1% vs 26.8%, p = 0.020).

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Section: Discussionmentioning

confidence: 67%