However, the association with chromosome 22q11 deletion (DiGeorge Syndrome) implies that a genetic component is likely in certain cases. Esophageal atresia also occurs in some patients with double aortic arch. Diagnosis
Prenatal diagnosis (fetal ultrasound):
Today the diagnosis of double aortic arch can be obtained in-utero in experienced centers. Scheduled repair soon after birth in symptomatic patients can relieve tracheal compression early and therefore potentially prevent the development of severe tracheomalacia. Chest X-ray:
Plain chest x-rays of patients with double aortic arch may appear normal (often) or show a dominant right aortic arch or two aortic arches . There might be evidence of tracheal deviation and/or compression. Sometimes patients present with radiologic findings of pneumonia. Barium swallow (esophagraphy):
Historically the esophagram used to be the gold standard for diagnosis of double aortic arch. In patients with double aortic arch the esophagus shows left- and right-sided indentations from the vascular compression. Due to the blood-pressure related movement of the aorta and the two arches, moving images of the barium-filled esophagus can demonstrate the typical pulsatile nature of the obstruction. The indentation from a dominant right arch is usually deeper and higher compared to the dent from the left arch. Bronchoscopy:
Although bronchoscopy is not routinely done in patients with suspected or confirmed double aortic arch, it can visualize sites and severity of pulsatile tracheal compression. Echocardiography:
In babies under the age of 12 months, echocardiography is considered to be sensitive and specific in making the diagnosis of double aortic arch when both arches are open.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder. Presentation
The primary manifestations are thrombocytopenia and megakaryocytopenia, or low numbers of platelets and megakaryocytes. There is an absence of megakaryocytes in the bone marrow with no associated physical abnormalities. Cause
The cause for this disorder appears to be a mutation in the gene for the TPO receptor, c-mpl, despite high levels of serum TPO. In addition, there may be abnormalities with the central nervous system including the cerebrum and cerebellum which could cause symptoms. Diagnosis
Treatment
The primary treatment for CAMT is bone marrow transplantation.Bone Marrow/Stem Cell Transplant is the only thing that ultimately cures this genetic disease. Frequent platelet transfusions are required to ensure that platelet levels do not fall to dangerous levels, although this is not always the case. It is known for patients to continue to create very small numbers of platelets over time. See also
Thrombopoietin
Myeloproliferative leukemia virus oncogene

References
External links
Amegakaryocytic Thrombocytopenia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)