International Journal of Cardiology

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International Journal of Cardiology Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene Maria Barbara Pasanisi, Sara Missaglia, Denise Cassandrini, Franco Salerno, Stefania Farina, Daniele Andreini, Piergiuseppe Agostoni, Lucia Morandi, Marina Mora, Daniela Tavian International Journal of Cardiology Volume 207, Pages 165-167 (March 2016) DOI: 10.1016/j.ijcard.2016.01.137 Copyright © 2016 The Authors Terms and Conditions

Fig. 1 Histochemical, clinical and molecular characterization of NLSDM patient. Light microscopy of frozen transverse sections of skeletal muscle biopsy stained with Gomori trichrome (A) and Oil Red O (B) show an increase of lipid droplets; electron microscopy reveals massive line-up of lipid droplets without signs of mitochondrial alteration (C).Whole-body MRI showing: in (D) mild fatty infiltration of trapezius, deltoid and infraspinatus muscles; in (E) the posterior thigh muscles (hamstring, semimembranosus and semitendinosus) more severely involved than the quadriceps; in (F)severe fatty infiltration of leg muscles, with partial saving of anterior and posterior tibialis; and in (G) the diffuse involvement of the gluteus muscles. Electropherogram of PNPLA2 exon 2 sequence with the c.41_47delGCTGCGG homozygous mutation in patient (H); wild type sequence of exon 2 in a control subject in (I). International Journal of Cardiology 2016 207, 165-167DOI: (10.1016/j.ijcard.2016.01.137) Copyright © 2016 The Authors Terms and Conditions

Fig. 2 Left ventricle fibrosis detected by cardiovascular magnetic resonance. Contrast-enhanced inversion-recovery gradient-echo images of left ventricle (basal portion, panel A and middle portion, panel B) in short-axis views, showing subepicardial late gadolinium enhancement of interventricular septum (arrows) and meso-subepicardial late gadolinium enhancement of anterior-lateral free wall (head arrows). LV=left ventricle. International Journal of Cardiology 2016 207, 165-167DOI: (10.1016/j.ijcard.2016.01.137) Copyright © 2016 The Authors Terms and Conditions