Advances in neonatal care : official journal of the National Association of Neonatal Nurses · 2021
Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.
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Meliota Giovanni, Vairo Ugo, Ficarella Romina, Milella Leonardo, Faienza Maria Felicia, D'Amato Gabriele
Аннотация
BACKGROUND: Filamin A (FLNA) is an intracellular actin-binding protein, encoded by the FLNA gene, with a wide tissue expression. It is involved in several cellular functions, and extracellular matrix structuring. FLNA gene alterations lead to diseases with a wide phenotypic spectrum, such as brain periventricular nodular heterotopia (PVNH), cardiovascular abnormalities, skeletal dysplasia, and lung involvement.
CLINICAL FINDINGS: We present the case of a female infant who showed at birth aortic valve stenosis and PVNH, and subsequently developed interstitial lung disease with severe pulmonary hypertension.
PRIMARY DIAGNOSIS: The association of aortic valve dysplasia, left ventricular outflow obstruction, persistent patent ductus arteriosus, and brain heterotopic gray matter suggested a possible FLNA gene alteration. A novel heterozygous intronic variant in the FLNA gene (NM_001110556.1), c.4304-1G >A, was detected.
INTERVENTIONS: In consideration of valve morphology and severity of stenosis, the neonate was scheduled for a transcatheter aortic valvuloplasty. At 3 months of life, she developed hypoxemic respiratory failure with evidence of severe pulmonary hypertension. Inhaled nitric oxide (iNO) and milrinone on continuous infusion were started. Because of a partial response to iNO, an intravenous continuous infusion of sildenafil was introduced.
OUTCOMES: In consideration of severe clinical course and fatal outcome, the new FLNA gene mutation described in our patient seems to be associated with a loss of function of FLNA.
PRACTICE RECOMMENDATIONS: Lung and brain involvement, in association with left ventricular outflow obstruction and persistent patency of ductus arteriosus, should be considered highly suggestive of FLNA gene alterations, in a female newborn.
CLINICAL FINDINGS: We present the case of a female infant who showed at birth aortic valve stenosis and PVNH, and subsequently developed interstitial lung disease with severe pulmonary hypertension.
PRIMARY DIAGNOSIS: The association of aortic valve dysplasia, left ventricular outflow obstruction, persistent patent ductus arteriosus, and brain heterotopic gray matter suggested a possible FLNA gene alteration. A novel heterozygous intronic variant in the FLNA gene (NM_001110556.1), c.4304-1G >A, was detected.
INTERVENTIONS: In consideration of valve morphology and severity of stenosis, the neonate was scheduled for a transcatheter aortic valvuloplasty. At 3 months of life, she developed hypoxemic respiratory failure with evidence of severe pulmonary hypertension. Inhaled nitric oxide (iNO) and milrinone on continuous infusion were started. Because of a partial response to iNO, an intravenous continuous infusion of sildenafil was introduced.
OUTCOMES: In consideration of severe clinical course and fatal outcome, the new FLNA gene mutation described in our patient seems to be associated with a loss of function of FLNA.
PRACTICE RECOMMENDATIONS: Lung and brain involvement, in association with left ventricular outflow obstruction and persistent patency of ductus arteriosus, should be considered highly suggestive of FLNA gene alterations, in a female newborn.