MTHFD2 was also upregulated and in a myocardial sample from one BTHS patient compared with one healthy donor and with two patients with ischemic- or idiopathic dilated cardiomyopathy, respectively (Fig. 3K, L, Supplementary Fig. 5 K). The gene discussed is MTHFD2; the disease is idiopathic dilated cardiomyopathy.