LAMP2 shines a light on cardiomyopathy in an athlete

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Presentation transcript:

LAMP2 shines a light on cardiomyopathy in an athlete Sophie Martin, MBBS, Jodie Ingles, BBiomedSci, PhD, MPH, Imre Hunyor, MBBS, DPhil, Richard D. Bagnall, BSc, PhD, Rajesh Puranik, MBBS, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS HeartRhythm Case Reports Volume 3, Issue 3, Pages 172-176 (March 2017) DOI: 10.1016/j.hrcr.2016.11.005 Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 1 Clinical features. A: Family pedigree (arrow for index case, “N” = normal clinical screening). B: The 12-lead electrocardiogram of index case (II:1) showing sinus rhythm, severe left ventricular hypertrophy, and deep T-wave inversion. HeartRhythm Case Reports 2017 3, 172-176DOI: (10.1016/j.hrcr.2016.11.005) Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 2 Echocardiographic imaging. A: Apical 4-chamber view and B: parasternal short axis view of the index case showing diffuse myocardial hypertrophy. Cardiac magnetic resonance imaging. C: Severe concentric left ventricular wall thickening in a representative midventricular short-axis cine-slice in end-diastole. D: Increased myocardial signal in the basal anteroseptal, anterolateral, and lateral walls on T2-weighted imaging. E, F: Late gadolinium enhancement images in short axis (E) and 4-chamber (F) orientation showed a patchy pattern of enhancement in the mid-distal anteroseptal, inferoseptal, and lateral walls. HeartRhythm Case Reports 2017 3, 172-176DOI: (10.1016/j.hrcr.2016.11.005) Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 3 Schematic diagram of the LAMP2 gene. Red arrow indicates location of the intronic splice variant in intron 2 (c.183+2T>C). Diagram modified from D’souza et al.14 HeartRhythm Case Reports 2017 3, 172-176DOI: (10.1016/j.hrcr.2016.11.005) Copyright © 2017 Heart Rhythm Society Terms and Conditions