Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature

Article type: Case Report

Authors: Jasthi, D.^a | Kollikonda, S.^b | Karnati, S.^{c; *}

Affiliations: [a] Case Western Reserve University School of Medicine, Cleveland, OH, USA | [b] Department of Obstetrics and Gynecology, Women’s Health Institute, Cleveland Clinic, Cleveland, OH, USA | [c] Department of Neonatology, Cleveland Clinic Children’s Hospital, Cleveland, OH, USA

Correspondence: [*] Address for correspondence: Sreenivas Karnati, MD, Department of Neonatology, M31, 9500 Euclid Ave, Cleveland, OH 44195, USA. Tel.: +1 216 389 1998; Fax: +1 216 444 7625; E-mail: [email protected].

Abstract: BACKGROUND:Adenosine triphosphate-binding cassette transporter A3 (ABCA3) mutations are recognized as a congenital cause of surfactant deficiency. Clinical presentations of such mutations are largely variable. There are many mutations of the ABCA3 gene, of which, p.E292V is the most common. Despite being the most common ABCA3 gene mutation, there is limited literature on extra pulmonary and long-term outcomes of the affected infants. CASE:We present the case of a Caucasian male infant born at 32 weeks gestation that developed severe respiratory distress shortly after birth, and review published case reports and case series of infants affected with this gene mutation. He was found to have a heterozygous missense mutation p.E292V of ABCA3 resulting in a chronic lung disease. He required multiple courses of systemic and inhalational steroids. He developed supraventricular tachycardia (SVT), feeding problems and hypotonia during his prolonged hospital stay. He demonstrated mild neurodevelopmental delays on follow up at 18 months of age. The chronic lung disease improved over the first 2 years of life. He continued to have feeding difficulties and supraventricular tachycardia at nearly 2 years of age. CONCLUSION:The infant’s SVT may be associated with this ABCA3 variant. Further long-term follow-up studies are needed to better characterize extrapulmonary manifestations of this ABCA3 mutation.

Keywords: BSID III, neurodevelopment, p.E292V, supra ventricular tachycardia

DOI: 10.3233/NPM-210879

Journal: Journal of Neonatal-Perinatal Medicine, vol. 15, no. 3, pp. 653-658, 2022