Abstract | RATIONALE: PATIENT CONCERNS: A 3-month-old Chinese girl was admitted to the hospital presenting a complaint of cyanosis for 10 days and respiratory distress for 2 days. The history of foreign body inhalation was denied. DIAGNOSES: Blood routine, liver and kidney function, electrolytes, type B natriuretic peptide, electrocardiogram, cardiac computed tomography (CT), and echocardiography were done after admission. Dysplasia of the alveolar and the left upper pulmonary vein was displayed through cardiac CT. Echocardiography showed atrial septal defect, tricuspid valve malformation, and pulmonary hypertension. Sequence analysis of FOXF1 from genomic deoxyribonucleic acid ( DNA) revealed that the patient was heterozygous for a novel missense variant (c.418 C>T, p.Pro140Gly). Furthermore, genetic analysis of both parents confirmed the de novo occurrence of the variant. Conservation analysis showed that the locus was highly conserved across species. Then, ACD/MPV was a clinical diagnosis. INTERVENTIONS: OUTCOMES: After 6 days of hospitalization, the patient's condition did not improved, the parents gave up treatment and discharged. The patient died half a month after discharge. LESSONS:
ACD/MPV is a rare congenital malformation with a poor prognosis. A new de novo mutation of FOXF1 was found in our case. Non-invasive methods such as DNA sequencing and FOXF1 analysis are helpful in the clinical diagnosis of ACD/MPV especially in early infants with respiratory distress and pulmonary hypertension.
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Authors | Lili Deng, Xingzhu Liu, Jieqing Min, Zhongjian Su, Yanfei Yang, Liping Ge, Zuozhen Yang, Bin Li, Xing Zhang |
Journal | Medicine
(Medicine (Baltimore))
Vol. 100
Issue 14
Pg. e25375
(Apr 09 2021)
ISSN: 1536-5964 [Electronic] United States |
PMID | 33832123
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. |
Chemical References |
- FOXF1 protein, human
- Forkhead Transcription Factors
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Topics |
- Echocardiography
(methods)
- Fatal Outcome
- Female
- Forkhead Transcription Factors
(genetics)
- Heart Septal Defects, Atrial
(diagnostic imaging, genetics)
- Heterozygote
- Humans
- Hypertension, Pulmonary
(diagnostic imaging, genetics)
- Infant
- Mutation, Missense
- Oxygen Inhalation Therapy
(methods)
- Persistent Fetal Circulation Syndrome
(diagnosis, drug therapy, genetics)
- Pulmonary Alveoli
(abnormalities)
- Pulmonary Veins
(abnormalities)
- Sequence Analysis
(methods)
- Treatment Failure
- Tricuspid Valve
(abnormalities, diagnostic imaging)
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