Figure 1

Underlying etiologies of cardiac hypertrophy in infants and their distribution. Malformation syndromes: Noonan (n = 12), Cantu (n = 3), Costello (n = 2), Berardinelli-Seip Congenital Lipodystrophy (n = 2), 1P36 chromosomal deletion (n = 1), Trisomie 18 (n = 1), Leprechaunism (n = 1), Beckwith-Wiedemann (n = 1); Sarcomeric disease: MYBPC3-gene mutations; Metabolic disease: Pompe (n = 3), GM1-gangliosidose (n = 1), VLCADD (n = 1); Congenital hyperinsulinism: Heterozygous mutation KCNJ11-gene (n = 1), hyperinsulinism (n = 1), after extreme dysmaturity (n = 1); Neuromuscular disease: Nemaline myopathy (mutation ACTA1-gene); Unknown: Variant of unknown significance (VUS) RYR2-gene, deletion RYR2-gene, paternal variant MYH7-gene (n = 2 siblings, 1 died), VUS MYH7-gene (n = 1).