Fig. 1

Massive myocardial loss in an adolescent patient with mutated PLKHM2 and familial cardiomyopathy. Sequential cardiac MRI studies; in all pictures left side shows an image from a 2012 exam and right side shows similar images from a 2014 exam. Late gadolinium enhancement imaging using phase-sensitive inversion recovery protocol (PSIR) is demonstrated. A, B short axis views, C, D four chamber views. Note focal patches of late gadolinium enhancement with prominent worsening in the second exams (yellow arrows). The patient was implanted with an ICD at the age 17.5 years, but had worsening heart failure and eventually died in hospital during preparations for cardiac transplantation. A skin biopsy obtained during ICD implantation was used to generate iPSCs that are examined in the present study (DCM-iPSCs, see text for details)