Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia

Ada C Stefanescu Schmidt; Edward T Carreras; Marie D Gerhard-Herman; Tsuyoshi Kaneko; Anne Marie Valente; Pinak B Shah

doi:10.1016/j.jaccas.2021.04.021

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia

JACC Case Rep. 2021 Jun 16;3(6):897-899. doi: 10.1016/j.jaccas.2021.04.021. eCollection 2021 Jun.

Authors

Ada C Stefanescu Schmidt¹, Edward T Carreras¹, Marie D Gerhard-Herman¹, Tsuyoshi Kaneko², Anne Marie Valente^{1

3}, Pinak B Shah¹

Affiliations

¹ Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
² Division of Cardiac Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
³ Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA.

Abstract

A young woman with mandibuloacral dysplasia, a syndrome on the progeria spectrum with accelerated vascular calcification and calcific valve stenosis, presented with symptomatic severe aortic stenosis. She underwent transcatheter aortic valve replacement with a balloon-expandable valve, and her exertional symptoms improved significantly. (Level of Difficulty: Intermediate.).

Keywords: TAVR, transcatheter aortic valve replacement; aortic valve stenosis; mandibuloacral dysplasia; progeria; transcatheter aortic valve replacement.