Work

Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant

Year: 2024

Type: article

Abstract: There is growing appreciation for inherited structural heart diseases and their genetic causes. One causal gene for congenital cardiac and vascular lesions is FLNA which encodes a critical protein for cytoskeletal and extracellular matrix development. A newborn infant male, with prenatally diagnosed polyvalvular dysfunction, presented with low cardiac output and postnatally detected aortic arch hypoplasia and coarctation. Attempted palliative coarctation intervention resulted in vascular complications that ultimately contributed to his demise. This case report highlights polyvalvular dysplasia, vascular abnormalities, and a likely causal de novo missense variant in the FLNA gene (c.5180 C>T p.P1727L) not previously described.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2024.102556

Authors: Amy Frenkel, Max Frenkel, Jefree J. Schulte, Shardha Srinivasan, Luke Lamers

Institution: University of Wisconsin–Madison

Language: English

Topic: Congenital heart defects research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850