Absence and aplasia of aorta
ICD-10 Q25.41 is a billable code used to indicate a diagnosis of absence and aplasia of aorta.
Absence and aplasia of the aorta is a rare congenital malformation characterized by the complete or partial absence of the aorta, the major artery responsible for delivering oxygenated blood from the heart to the rest of the body. This condition can lead to severe hemodynamic instability and is often associated with other congenital heart defects, such as coarctation of the aorta, ventricular septal defects, and tetralogy of Fallot. Infants with this condition may present with symptoms such as cyanosis, difficulty breathing, and poor feeding. Diagnosis is typically made through echocardiography, which can visualize the absence of the aorta and assess the presence of collateral circulation. Management often requires surgical intervention, including aortic reconstruction or heart transplantation, depending on the severity of the condition and associated anomalies. Early detection and intervention are crucial for improving outcomes in affected infants.
Pediatric documentation should include detailed clinical notes on the infant's presentation, diagnostic imaging results, and any interventions performed.
Common scenarios include newborns presenting with cyanosis, failure to thrive, or heart murmurs during routine examinations.
Consideration must be given to the age of the patient and the potential for evolving clinical presentations as the child grows.
Genetic documentation should include family history, genetic testing results, and any syndromic associations with congenital heart defects.
Genetic counseling scenarios may involve families with a history of congenital heart defects or syndromes associated with aortic anomalies.
Geneticists should be aware of the potential for chromosomal abnormalities that may co-occur with congenital heart defects.
Used in cases of absence or aplasia of the aorta requiring surgical intervention.
Detailed operative notes and pre-operative assessments.
Pediatric cardiothoracic surgeons should provide comprehensive documentation of the surgical approach and outcomes.
Common associated conditions include ventricular septal defects, coarctation of the aorta, and other congenital heart defects. Genetic syndromes may also be present, necessitating thorough evaluation.
