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

Amy Frenkel; Max Frenkel; Jefree J Schulte; Shardha Srinivasan; Luke Lamers

doi:10.1016/j.jaccas.2024.102556

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

JACC Case Rep. 2024 Sep 18;29(18):102556. doi: 10.1016/j.jaccas.2024.102556.

Authors

Amy Frenkel¹, Max Frenkel^{1

2

3}, Jefree J Schulte⁴, Shardha Srinivasan⁵, Luke Lamers⁵

Affiliations

¹ School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.
² Cellular and Molecular Biology Graduate Program, University of Wisconsin, Madison, Wisconsin, USA.
³ Medical Scientist Training Program, University of Wisconsin, Madison, Wisconsin, USA.
⁴ Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.
⁵ Division of Cardiology, Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.

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.

Keywords: cardiac catheterization filamin A; variant effect prediction; vasculopathy.

Publication types

Case Reports