Left cardiac outflow tract malformation

Introduction Most patients with Digeorg syndrome in children have left heart outflow tract malformations. Facial features of children with Digolger syndrome include long facial, spherical tip and narrow nose, cleft palate, flat humerus, and increased eye distance Wide, squinting, low lop ear with acupuncture depression and atrophy of the auricle and a small mandible. The disease is caused by some factors (such as viral infection, poisoning) leading to the development of the third and fourth pharyngeal sac neural crest in early pregnancy, resulting in hypoplasia or dysplasia of the thymus (often accompanied by parathyroid glands).

Cause

(1) Causes of the disease

The disease is caused by some factors (such as viral infection, poisoning) leading to the development of the third and fourth pharyngeal sac neural crest in early pregnancy, resulting in hypoplasia or dysplasia of the thymus (often accompanied by parathyroid glands). Often accompanied by cardiovascular, maxillofacial, ear and other developmental deformities. Among the children born to older parents, some children are related to chromosome 22q11 defects, mainly the deletion of 22q11.2.

(two) pathogenesis

DGS is a group of polymorphic complexes including the pharyngeal arch. The etiology is complicated, and the possible factors are contact with teratogenic preparations and maternal diabetes. Most DGS (90%) patients and patients with cardiac malformations have a gene deletion in 22q11. The high-risk mutant or translocated gene fragment is between D22S75 (N25) and GM00980, and its length is 200-300 kb. The frequently mutated region is between D22S427 and D22S36. Another easily mutated region is the distal end of FCF2. The exact pathogenic or candidate mutant genes to date have not been clarified. These candidate genes include N25 (related to skeletal muscle and inclusion factor heavy chain gene CLTCL), DGCR/LAN/IDD, citrate transporter gene (CTP), and DGCR6. DGS also has other chromosomal site abnormalities, including haploid 10q13, 18q21 and 17p13, 9q diploid and homologous chromosome 18q.

an examination

Related inspection

Chest CT examination electrocardiogram

According to the corresponding clinical manifestations, laboratory and X-ray examination of the disease, it is found that the thymus deficiency, parathyroid gland and T cell dysfunction can diagnose the disease. Among them, hypoparathyroidism and T cell dysfunction are essential conditions, and other manifestations may or may not be diagnosed. Otolaryngology CT examination. CT examination of the otolaryngology is a method of examining the otolaryngology by CT.

Differential diagnosis

Different from other primary and secondary immunodeficiency diseases, it can be identified according to clinical characteristics and laboratory assistant examinations.

1. Heart abnormalities: Most patients have left heart outflow tract malformations. Other lesions include right heart outflow tract malformations including pulmonary atresia and tetralogy of Fallot, right ventricular outflow tract, and pulmonary artery stenosis.

2. Hypocalcemia: Hand and foot convulsions caused by hypocalcemia usually occur within 24 to 48 hours after birth, and 1 patient diagnoses hypocalcemia for the first time at 5 years of age. In 40 cases of long-term follow-up, 26 cases of hypocalcemia were corrected, 4 cases died, and the remaining 10 patients continued to receive treatment. Hypocalcemia is particularly prominent during the first two weeks of life, but most are transient and relieve with age.

3. Facial features: facial features include long face, spherical tip and narrow nose, cleft palate, flattened humerus, widened eye distance, squint, low lop ear with auricular sag and avray hypoplasia and mandibular hyposmosis . Other rare body abnormalities include microcephaly, short stature, slender toe, inguinal hernia, and scoliosis.

4. Repeated infection: children with complete DiGeorge syndrome have impaired immune function due to thymic dysplasia, often prone to repeated infections, manifested as chronic rhinitis, repeated pneumonia (including Pneumocystis carinii pneumonia), oral Candida infection and diarrhea . The child is very weak and not easy to survive.

5. Neuropsychiatric problems: With the improvement of treatment methods, the number of survivors of DGS children has increased, and neuropsychiatric problems have been paid attention to. Children with mild neuropsychiatric development and cognitive impairment. The majority of sick children had an IQ of 73 ± 10. Progressive muscle rigidity, gait instability, etc. suggest a neurodegenerative change.

6. Autoimmune diseases: DGS has a higher chance of developing autoimmune diseases than normal children, including juvenile rheumatoid arthritis, autoimmune hemolytic anemia and thyroiditis.

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