The classification system (Types A, B, and C) were defined by Celoria and Patton in 1959.The first successful repair of a Type A interrupted aortic arch was reported in 1961, in which the left subclavian artery was grafted into the descending thoracic aorta in a 14-year-old male patient. The first successful repair of a Type A interrupted aortic arch in an infant was in a 12-day-old infant in 1969, in which the left subclavian artery was connected to the descending thoracic aorta, the patent ductus arteriosus was closed, and the main pulmonary artery was banded.The first successful repair of a Type B interrupted aortic arch was in 1954, in which the 16 year-old, female patients own aorta was grafted from the arch to the descending thoracic aorta and the left subclavian artery was ligated. The first successful repair on a type B interrupted aortic arch in an infant was in 1973, in which a vein was used to connect the ascending aorta and the descending aorta.The first successful repair of a Type C interrupted aortic arch was in 1964, in which the 16-year-old female patients ascending aorta was grafted to the descending thoracic aorta. As of 1984, there had been no successful repairs on infants under one year old.The use of PGE1 dramatically improved the mortality rate after its introduction in 1976.
Michael Mackey "postulates that the production of neutrophils is governed by long‐range stimulatory factors in a long feedback loop that has a built‐in time delay in the maturation of promyelocytes to fully differentiated neutrophils". It is also not clear what causes that the levels of secretory leucocyte protease inhibitor (SLPI), which influences the induction of the unfolded protein response (UPR), are not diminished and as such activation of UPR is absent in CyN compared to SCN, in other words, different ELANE mutations "have different effects on UPR activation, and SLPI regulates the extent of ELANE‐triggered UPR". A 2020 study published in Annals of the New York Academy of Sciences about the pathomechanism of CyN revealed that "some HSPCs escape the UPR‐induced endoplasmic reticulum (ER) stress and proliferate in response to granulocyte colony‐stimulating factor (G‐CSF) to a certain threshold at which UPR again affects the majority of HSPCs. There is a cyclic balance between ER stress-induced apoptosis of HSPCs and compensatory G‐CSF–stimulated HSPC proliferation followed by granulocytic differentiation"; in other words, CyN is "characterized by cycling UPR activities and cycling UPR‐escaping cells". Also, the most probable reason that from the same mutation variant develops SCN and not CyN is due to more severe damage caused by UPR stress in SCN. Diagnosis
A diagnosis is usually confirmed by monitoring absolute neutrophil (ANC) count three times per week for at least six weeks. The confirmation can be assisted with Lomb periodogram.