Hypertension and Brachydactyly Syndrome

Abdulla Shahid, BS; Naman S. Shetty, MD; Nirav Patel, MD, MSPH; Taylor McClinchey, MS; Garima Arora, MD; Pankaj Arora, MD

JACC: Case Reports (Jun 2024)

Hypertension and Brachydactyly Syndrome

Abdulla Shahid, BS,
Naman S. Shetty, MD,
Nirav Patel, MD, MSPH,
Taylor McClinchey, MS,
Garima Arora, MD,
Pankaj Arora, MD

Affiliations

Abdulla Shahid, BS: Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA
Naman S. Shetty, MD: Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA
Nirav Patel, MD, MSPH: Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA
Taylor McClinchey, MS: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
Garima Arora, MD: Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA
Pankaj Arora, MD: Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA; Section of Cardiology, Birmingham Veterans Affairs Medical Center, Birmingham, Alabama, USA; Address for correspondence: Dr Pankaj Arora, University of Alabama at Birmingham, Division of Cardiovascular Disease, 1670 University Boulevard, Volker Hall B140, Birmingham, Alabama 35294-0019, USA.

Journal volume & issue: Vol. 29, no. 11
p. 102343

Abstract

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Phosphodiesterase 3A (PDE3A) gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the PDE3A gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at her initial presentation at 6 years of age.

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

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