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

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

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.)

Original language	English
Pages (from-to)	897-899
Number of pages	3
Journal	JACC: Case Reports
Volume	3
Issue number	6
DOIs	https://doi.org/10.1016/j.jaccas.2021.04.021
State	Published - Jun 2021

Keywords

aortic valve stenosis
mandibuloacral dysplasia
progeria
transcatheter aortic valve replacement

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10.1016/j.jaccas.2021.04.021

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title = "Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia",

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 = "aortic valve stenosis, mandibuloacral dysplasia, progeria, transcatheter aortic valve replacement",

author = "\{Stefanescu Schmidt\}, \{Ada C.\} and Carreras, \{Edward T.\} and Gerhard-Herman, \{Marie D.\} and Tsuyoshi Kaneko and Valente, \{Anne Marie\} and Shah, \{Pinak B.\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = jun,

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AU - Stefanescu Schmidt, Ada C.

AU - Carreras, Edward T.

AU - Gerhard-Herman, Marie D.

AU - Kaneko, Tsuyoshi

AU - Valente, Anne Marie

AU - Shah, Pinak B.

PY - 2021/6

Y1 - 2021/6

N2 - 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.)

AB - 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.)

KW - aortic valve stenosis

KW - mandibuloacral dysplasia

KW - progeria

KW - transcatheter aortic valve replacement

UR - https://www.scopus.com/pages/publications/85107340386

U2 - 10.1016/j.jaccas.2021.04.021

DO - 10.1016/j.jaccas.2021.04.021

M3 - Article

C2 - 34317650

AN - SCOPUS:85107340386

SN - 2666-0849

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JO - JACC: Case Reports

JF - JACC: Case Reports

IS - 6

ER -

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia

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Keywords

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