October 2, 2025Open Access

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

Key Points

Left ventricular hypertrophy was independently associated with PKD1 mutations, with an adjusted odds ratio of 8.5.
Aortic regurgitation correlated with larger renal diameters and lower glomerular filtration rates, though significance diminished after adjusting for age and gender.
Interventricular septal thickness showed positive correlation with renal diameter and negative correlation with eGFR across 154 ADPKD patients.
No associations were found with other cysts or aneurysms, emphasizing the focus on renal and cardiac manifestations in ADPKD.

Abstract

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 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-center study analyzed 154 adult ADPKD patients. Data included echocardiography (LVH, valvulopathies), abdominal ultrasound (renal diameter), cranial MRI, 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 = 0.027) and lower eGFR (p 0.001). Howewer, when adjusted for gender and age the associations are no longer significant. Interventricular septal thickness correlated positively with renal diameter (r=+0.32, p 0.001) and negatively with eGFR (r=-0.39, p 0.001). Left ventricular hypertrophy (LVH, prevalence 30%) was significantly associated with PKD1 mutations (PKD1 Non-Truncating vs PKD2 adjusted p value = 0.011; PKD1 Truncating vs PKD2 adjusted p value = 0.011), independent of hypertension, age, sex, and anemia (adjusted OR 8.5, p = 0.008). Mitral valve prolapse was associated with truncating PKD1 mutations (p = 0.007), independent of hypertension, age, sex, and anemia (adjusted OR 3.950, p = 0.037). No associations were found with hepatic, pancreatic, or intracranial cysts/aneurysms. Conclusions This study demonstrates an independent association between LVH and PKD1 mutations, and links aortic regurgitation to renal disease severity in ADPKD. These findings highlight genotype-phenotype correlations that may help stratify cardiovascular risk and inform personalized management in ADPKD.

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