Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD).

Methods

Medical records from Mayo Clinic were queried for all patients with confirmed ADPKD and CHD between 1993 and 2020. CHD was categorized into left-to-right shunt, obstructive, and complex lesions. Patent foramen ovale, mitral valve prolapse, and bicuspid aortic valve anomalies were excluded.

Results

Twenty-five out of 1,359 (1.84%) ADPKD patients were identified to have CHD. Of these, 84% wer

SUBMITTER: Chedid M 

PROVIDER: S-EPMC9832580 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature