In 2D-STE analysis, global peak systolic and early diastolic strain rate, as well as global strain in longitudinal and circumferential dynamics exhibited a consistent pattern: profound decreases in the ADH and the PDH groups compared to controls, i.e. significant decreases in systolic and diastolic functions were observed in the ADH and PDH groups when compared to controls. The gene discussed is AVP; the disease is pyruvate dehydrogenase deficiency.