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

Giulia Condello1, Pierluigi Fulignati1, Viola D'Ambrosio1

  • 1Nephrology, Dialysis and Transplantation Unit, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome  Italy.

Clinical Kidney Journal
|November 6, 2025
PubMed

Insights

Left ventricular hypertrophy (LVH) in autosomal dominant polycystic kidney disease (ADPKD) is independently associated with PKD1 mutations. Aortic regurgitation correlates with renal disease severity, suggesting genotype-phenotype links for personalized ADPKD management.

Area of Science:

  • Nephrology
  • Cardiology
  • Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) presents with renal and extrarenal manifestations, including cardiac abnormalities like valvulopathies and left ventricular hypertrophy (LVH).
  • The relationship between cardiac issues, ADPKD genotype, and disease severity is not well understood.
  • Understanding these associations is crucial as cardiac complications increase mortality in ADPKD patients.

Purpose of the Study:

  • To investigate the prevalence of valvulopathies and LVH in ADPKD patients.
  • To explore associations between cardiac abnormalities and renal function, renal size, systemic features, and genotype (PKD1/PKD2 mutations).

Main Methods:

  • Retrospective analysis of 154 adult ADPKD patients.
  • Echocardiography for LVH and valvulopathies, abdominal ultrasound for renal diameter, and genetic testing for PKD1/PKD2 mutations.
  • Statistical analysis, including logistic regression, to assess associations.

Main Results:

  • Left ventricular hypertrophy (LVH) was present in 30% of patients and independently associated with PKD1 mutations (non-truncating and truncating vs. PKD2).
  • Mitral valve prolapse was linked to truncating PKD1 mutations.
  • Aortic regurgitation showed association with larger renal diameter and lower eGFR, though not significant after adjustment for age and gender.
  • Interventricular septal thickness correlated with renal diameter and inversely with eGFR.

Conclusions:

  • LVH in ADPKD is independently associated with PKD1 mutations.
  • Aortic regurgitation is linked to renal disease severity in ADPKD.
  • These genotype-phenotype correlations can aid in cardiovascular risk stratification and personalized ADPKD management.
Abstract

Keywords:
ADPKDPKD1PKD2left ventricular hypertrophyvalvular heart disease

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