Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review

• Published in: BMC pediatrics 2020-11, Vol.20 (1), p.504-504, Article 504
• Main Authors: Deng, Xiaoxian, Li, Shanshan, Qiu, Qiu, Jin, Bowen, Yan, Menghuan, Hu, Yuanpin, Wu, Yang, Zhou, Hongmei, Zhang, Gangcheng, Zheng, Xuan
• Format: Article
• Language: English
• Subjects: Antibodies; Binding proteins; Cardiac catheterization; Cardiovascular disease; Case Report; Case reports; Case studies; Child; Congenital diseases; Congenital heart defects; Congenital heart disease; Female; Females; Filamin A; Filamins - genetics; Gene mutation; Genetic aspects; Health aspects; Heart; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Humans; Hypertension, Pulmonary - etiology; Hypertension, Pulmonary - genetics; Infant; Intubation; Literature reviews; Lung Diseases; Mortality; Mutation; Oxygen saturation; Patients; Pediatric research; Pediatrics; Pneumonia; Proteins; Pulmonary Arterial Hypertension; Pulmonary arteries; Pulmonary hypertension; Veins & arteries
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-020-02393-2

Pediatric patients with genetic disorders have a higher incidence of pulmonary arterial hypertension (PAH) regardless of their heart defects. Filamin A (FLNA) mutation is recently recognized to be associated with pediatric pulmonary disorders, however, the clinical courses of PAH related to the mutation were reported in limited cases. Here, we presented a case and pooled data for better understanding of the correlation between FLNA mutation and pediatric PAH. The patient was a 8-month-old female with repeated episodes of pneumonia. Physical examination revealed cleft lip, cleft palate and developmental retardation. Imaging examination showed a small atrial septal defect (ASD), central pulmonary artery enlargement, left upper lobe of lung atelectasis, and pulmonary infiltration. Genetic test showed she carried a de novo pathogenic variant of FLNA gene (c.5417-1G > A, p.-). Oral medications didn't slow the progression of PAH in the patient, and she died two years later. FLNA mutation causes rare but progressive PAH in addition to a wide spectrum of congenital heart disease and other comorbidities in pediatric patients. We highly recommend genetic testing for pediatric patients when suspected with PAH. Given the high mortality in this group, lung transplantation may offer a better outcome.