-
Views
-
Cite
Cite
Andrea Barison, Giancarlo Todiere, Lamia Ait-Ali, Giovanni Donato Aquaro, Pierluigi Festa, Clinical importance of follow-up scans to detect cardiomyopathies with delayed phenotypic expression, European Heart Journal - Cardiovascular Imaging, Volume 17, Issue 8, August 2016, Page 950, https://doi.org/10.1093/ehjci/jew103
- Share Icon Share
Extract
A 13-year-old asymptomatic athlete underwent cardiovascular magnetic resonance (CMR) because of inferolateral-negative T-waves at electrocardiography (Panel 1). He had neither family history of cardiac disease or sudden death, nor major arrhythmias at cycle ergometry and 24-h Holter monitoring, but only rare supraventricular and ventricular ectopic beats. His CMR showed only a bizarre shape of the basal anterior interventricular septum (Panel 2, arrow), with otherwise normal volumes, function, and wall thickness (see Supplementary data online, Movie S1); no areas of late gadolinium enhancement or fatty infiltration were noted. The patient continued regular sport activity, under regular medical follow-up. After 9 years, at the age of 22 years, he started to complain of shortness of breath during strenuous exercise; his ECG and echocardiogram (limited by funnel chest) were unchanged, but flow acceleration in the left ventricular (LV) outflow tract became apparent during Valsalva manoeuvre. He then underwent a second CMR scan, which disclosed marked LV hypertrophy, particularly in the interventricular septum and inferior LV wall (Panel 3; see Supplementary data online, Movie S2), with several areas of late gadolinium enhancement (Panel 4); moreover, some systolic flow turbulence was noted in the LV outflow tract (Panel 5, arrow; see Supplementary data online, Movie S3). Hypertrophic cardiomyopathy, a leading cause of arrhythmias in the young, often develops during adolescence: an abnormal electrocardiogram should always rise the suspicion, while early imaging may miss the diagnosis and find only minor non-diagnostic clues pointing to possible cardiomyopathy; regular follow-up imaging is recommended, because the final diagnosis can sometimes be done only years later, after full phenotypic expression.