Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature
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CASE REPORT
Open Access
Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review Xiaoxian Deng1, Shanshan Li1, Qiu Qiu1, Bowen Jin1, Menghuan Yan1, Yuanpin Hu2, Yang Wu3, Hongmei Zhou1, Gangcheng Zhang1 and Xuan Zheng1,2*
Abstract Background: 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. Case presentation: 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. Conclusions: 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. Keywords: Pulmonary arterial hypertension, Congenital heart disease, Filamin A
Background Pediatric pulmonary arterial hypertension (PAH) is a rare disease with high mortality. Left-to-right shunting, lung diseases and genetic disorders are most common causes leading to PAH in children[1]. Filamin A (FLNA) is a 280-kD protein widely expressed in the body and regulating cell shape and migration. Among the broad range of diseases associated with FLNA mutation, lung diseases have been seen in most patients, such as * Correspondence: [email protected] 1 Congenital Heart Disease center, Wuhan Asia Heart hospital, 753 Jinghan Ave, 430022 Wuhan, China 2 Laboratory of Molecular Cardiology, Wuhan Asia Heart hospital, 753 Jinghan Avn, 430022 Wuhan, China Full list of author information is available at the end of the article
pneumonia, and respiratory failure. In addition, PAH in pediatric patients with FLNA mutation was fatal despite of their congenital heart disease (CHD), and required early lung transplantation[2]. Here we report a female patient with FLNA mutation, who presented with recurrent pneumonia, arterial septal defect (ASD), mild developmental delay and rapidly progressive PAH.
Case presentation An 8-month-old female patient was referred to our center due to severe cough, short of breath, fatigue and fever. The patient had nine episodes of pneumonia and cardiomegaly since she was
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