Cardiac complications in autosomal dominant polycystic kidney disease: links to genotype and CKD severity

Abstract

Background. Autosomal dominant polycystic kidney disease (ADPKD), caused by PKD1/PKD2 mutations, features renal and extrarenal manifestations including valvulopathies and left ventricular hypertrophy (LVH), which increase mortality. Associations between these cardiac abnormalities and the ADPKD genotype or disease severity remain poorly defined. We investigated the prevalence and associations of valvulopathies and LVH with renal function, renal size, systemic features and genotype in ADPKD. Methods. This retrospective, single-centre study analysed 154 adult ADPKD patients. Data included echocardiography (LVH, valvulopathies), abdominal ultrasound (renal diameter), cranial magnetic resonance imaging, estimated glomerular filtration rate (eGFR) and genetic testing (PKD1/PKD2 mutations) in 87 patients. Associations were assessed using appropriate statistical tests including logistic regression for multivariable analysis. Results. Aortic regurgitation was associated with larger mean renal diameter (P = .027) and lower eGFR (P < .001). However, when adjusted for gender and age the associations are no longer significant. Interventricular septal thickness correlated positively with renal diameter (r = +0.32, P < .001) and negatively with eGFR (r = −0.39, P