The embryological basis of subclinical hypertrophic cardiomyopathy.

摘要: Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It characterised left ventricular hypertrophy but there an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype they almost all resolve birth. By contrast, HO HET embryos had increased crypt presence, valve formation alterations compaction process. scarce human embryos, were sometimes present. This study shows HCM occur mouse. animal model demonstrate embryological phenotype. Crypts but, along trabeculae, their developmental trajectory altered presence truncating Mybpc3 gene mutation.