How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance

• Published in: Journal of cardiovascular magnetic resonance 2010-03, Vol.12 (1), p.13-13, Article 13
• Main Authors: Germans, Tjeerd, Rüssel, Iris K, Götte, Marco J W, Spreeuwenberg, Marieke D, Doevendans, Pieter A, Pinto, Yigal M, van der Geest, Rob J, van der Velden, Jolanda, Wilde, Arthur A M, van Rossum, Albert C
• Format: Article
• Language: English
• Subjects: Abnormalities; Accuracy; Adult; Assessments; Atrial Function, Left - genetics; Blood pressure; Cardiology; Cardiomyopathy; Cardiomyopathy, Hypertrophic - diagnosis; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - physiopathology; Carriers; Case-Control Studies; Contrast Media; Control equipment; Echocardiography, Doppler; Evaluation; Family medical history; Female; Gadolinium DTPA; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Heart Atria - pathology; Heart Atria - physiopathology; Heart attacks; Heart diseases; Heart Ventricles - pathology; Heart Ventricles - physiopathology; Hospitals; Humans; Imaging; Magnetic resonance; Magnetic resonance imaging; Magnetic Resonance Imaging, Cine; Male; Middle Aged; Morphology; Mutation; Mutations; Observer Variation; Phenotype; Physiological aspects; Predictive Value of Tests; Reproducibility of Results; Software; Ventricular Function, Left - genetics; Wall thickness; Writing
• ISSN: 1097-6647; 1532-429X; 1532-429X
• DOI: 10.1186/1532-429X-12-13

Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers. 28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. LV mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3+/-0.2 versus 1.1+/-0.1, p