Vanlerberghe et al. [9] reported in their work that there are several genetic variants of this syndrome, also due to mutation of the TBX5 gene but with some variations on the molecular level, and manifested by other anomalies such as "pectus excavatum", pulmonary agenesis, Tetralogy of Fallot, or cardiomyopathy without septal defect. The gene discussed is TBX5; the disease is cardiomyopathy.