Neuroblastoma (most common extra-cranial tumor in infancy)
Di-George syndrome (due to deletion on chromosome 22, associated with truncus arteriosus and tetralogy of Fallot)
Neurofibromatosis type 1 (mutation of neurofibromin gene on chromosome 17)
Hirschsprung disease (aganglionic segment in intestine, baby fails to pass meconium within 48 hours of delivery, part of colon near to anus is usually first to be affected. Definitive diagnosis is made by suction biopsy)
Tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect, and right ventricular hypertrophy)
Treacher-Collins syndrome (congenital disorder with craniofacial deformities like micrognathia, conductive hearing loss, and undeveloped zygoma, mutated gene (TCOF1) act as a precursor of neural crest cell)
Melanoma (tumor of melanocytes, occur due to the DNA damage from UV light, common sites are leg and back, treatment is surgery followed by IL-2 or interferon)
Adapted from: Fundamentals of Cardiology: Concise Review for USMLE and General Medical Boards Image source: frontal view of the chest cavity on chest x-ray, University of Auckland
Ventricular septation begins at 4th week and is completed by the end of 7th week.
Upper membranous part of septum arises from the endocardial cushion, conotruncal ridge and grows downward. Lower muscular part of septum appears from the floor of ventricles and grows upward.
The majority of the septum is made up of the muscular part. Failure in the fusion of upper and lower septum will lead to ventricular septal defect.
The endocardial cushion also contributes to the development of all valves and play a significant role for intra-heart partitions. Various neural crest cell abnormalities will affect cardiac septal development.
Adapted from: Fundamentals of Cardiology: Concise Review for USMLE and General Medical Boards Image source: www.keyword-suggestions.com
Septation of truncus arteriosus will give rise to pulmonary artery and aorta.
Two processes take place in this septation:
Formation of the aortic-pulmonary septum: the septum will divide truncus arteriosus into two tubes. One tube will form pulmonary artery, and another tube will form aorta.
Spiral rotation: during the process of septation, initially pulmonary artery is on the left side and aorta is on the right side. Spiral rotation is necessary so that aorta ends up on the left side (to left ventricle) and pulmonary artery ends up on the right side (to the right ventricle).
Failure of aorticopulmonary septum development will result in truncus arteriosus while the failure of spiralization will result in transposition of great vessels.
If aorticopulmonary septum fails to align correctly and shifts anteriorly to right, it will result in tetralogy of Fallot.