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Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease

Ryohei Miyamoto1, Akinari Sekine1,2, Takuya Fujimaru3

  • 1Nephrology Center, Toranomon Hospital, Tokyo, Japan.

Kidney Diseases (Basel, Switzerland)
|June 15, 2022
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) patients with the PKD1 genotype show higher rates of mitral regurgitation. Early echocardiography and strict blood pressure control are recommended for PKD1 patients to prevent cardiac events.

Area of Science:

  • Nephrology
  • Cardiology
  • Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney disease with known extrarenal complications.
  • Cardiovascular complications in ADPKD contribute significantly to patient morbidity and mortality.
  • The underlying reasons for frequent cardiac issues and their relation to ADPKD genotypes remain unclear.

Purpose of the Study:

  • To investigate the association between ADPKD genotypes and cardiac complications.
  • To compare cardiac function, structure, and valvular disease prevalence across different ADPKD genotypes.

Main Methods:

  • Retrospective analysis of clinical data from 65 ADPKD patients (April 2016 - December 2020).
  • Genotyping using next-generation sequencing (PKD1, PKD2, non-PKD1/2).
  • Echocardiography to assess cardiac function, structure, and valvular disease.

Main Results:

  • The PKD1 group (n=32) exhibited a significantly higher prevalence of mitral regurgitation (MR) compared to PKD2 (n=12) and non-PKD1/2 (n=21) groups (46.9% vs. 8.3% vs. 19.0%, p=0.02).
  • No significant differences were observed for other cardiac valve complications among the genotype groups.
  • The study included 65 patients with ADPKD, categorized into PKD1, PKD2, and non-PKD1/2 groups.

Conclusions:

  • Patients with ADPKD and the PKD1 genotype have a significantly higher prevalence of mitral regurgitation.
  • Earlier and more frequent echocardiography is advised for PKD1 patients.
  • Stricter fluid volume and blood pressure management is recommended for PKD1 patients to mitigate cardiac risks.
Abstract

Keywords:
Autosomal dominant polycystic kidney diseaseCardiovascular diseaseMitral regurgitationPKD1PKD2

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