Fig 2: ACTN2 (α-actinin 2) variant as a strong candidate for diverse cardiac signs and symptoms. De-identified human free left ventricular wall was obtained from an A868T variant patient after heart transplant. (A) Family pedigree of A868T variant patient, red arrow marks proband patient. (MI: myocardial infarction, MVA: motor vehicle accident, CHD: congenital heart disease). (B) Representative echocardiographic longitudinal strain of proband patient. (C) Presenting electrocardiogram of proband patient. (D) Location of the A868T variant in the sarcomere (top left), primary sequence (bottom left), the red arrow shows where the variant is located and the amino acid substitution, schematic (top right), and crystal structure (bottom right) of α-actinin 2. (E) Representative H&E stained sections from explanted left ventricle free wall from the proband patient at 10× (left) and 40× (right) magnification.