Hereditary Hypertrophic Nonobstructive Cardiomyopathy Seen on Delayed Hyperenhancement Magnetic Resonance Imaging
A 25-year-old professional handball player collapsed in the team bus and was resuscitated. Afterward, he was presented to our clinic for further cardiac examination. During the electrophysiological study and at myocardial biopsy, ventricular fibrillation was induced and electrophysiologically reterminated. Magnetic resonance cine imaging (Figure, A; see also Movie I) showed good left ventricular (LV) function and a thickened, 28-mm, predominantly anterior LV wall without intraventricular flow turbulence. Pronounced delayed hyperenhancement (Figure, B, arrow) was observed after gadolinium exposition within hypertrophied muscle areas. Histology (hematoxylin and eosin stain; Figure, C) revealed myocardial disarray of muscular fibers and pronounced fibrosis generally common in hypertrophic cardiomyopathies. During left heart catheterization, no intraventricular pressure gradient was measured. Therefore, having come to the diagnosis of hypertrophic nonobstructive cardiomyopathy, we implanted a defibrillator. On inquiry, the father of the patient agreed to undergo cardiac magnetic resonance imaging (MRI) (although he had reported no cardiac symptoms), a normal treadmill test, and a 24-hour Holter ECG, with only insignificant findings. Although he displayed no clinical symptoms, he—like his son—showed a good ventricular function in steady-state free precession MRI (Figure, D; see also Movie II), with even more pronounced delayed hyperenhancement in his hypertrophied LV but more septal affected areas (Figure, E, arrow). MRI provides invaluable tissue information and demonstrates conclusively its importance as a diagnostic tool in familial cardiomyopathy studies. Simultaneously, the MRI results raise the question of therapy for family members with identical appearance on MRI scans but without clinical symptoms.
The online-only Data Supplement can be found at http://circ.ahajournals.org/cgi/content/full/113/11/e458/DC1.