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Pulmonary agenesis is an inborn lung underdevelopment that is rare and potentially lethal. [1] The disorder is caused by a complete developmental arrest of the primitive lung during embryonic life, and it is often associated with other developmental defects. [2]
Incidence of congenital malformations associated with tracheal agenesis. Results were obtained from a total of 32 individual case studies. [11]The classic in-utero symptoms of tracheal agenesis are an absence of the trachea leading to congenital high airway obstruction syndrome, [12] [13] lung distention, polyhydramnios, heart malformations, heart displacement and hydrops fetalis.
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, [1] is an example of a heterotaxy syndrome.These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys.
Pulmonary artery agenesis refers to a rare congenital absence of pulmonary artery due to a malformation in the sixth aortic arch. It can occur bilaterally, with both left and right pulmonary arteries being absent, or unilaterally, the absence of either left or right pulmonary artery (UAPA).
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q30-Q34 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
Medical diagnosis of pulmonary hypoplasia in utero may use imaging, usually ultrasound or MRI. [12] [13] The extent of hypoplasia is a very important prognostic factor. [14]One study of 147 fetuses (49 normal, 98 with abnormalities) found that a simple measurement, the ratio of chest length to trunk length, was a useful predictor of postnatal respiratory distress. [15]
The most typical form of APVS is a tetralogy of Fallot variant, [4] however, case studies have linked APVS to several different congenital cardiac syndromes, such as agenesis of ductus arteriosus, [5] persistent ductus arteriosus, [6] atrioventricular septal defect, [7] pulmonary branching abnormalities, [8] [9] transposition of the great arteries, [10] and type B interrupted aortic arch. [11]
Pulmonary aplasia is a rare congenital pathology characterized by the unilateral or bilateral absence of lung tissue. It is distinct from pulmonary agenesis , which, while similar, has a short-blind ending bronchus in aplasia.