Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease

Cardiorenal Med. 2019;9(3):180-189. doi: 10.1159/000496473. Epub 2019 Mar 7.

Abstract

Background: No previous study has defined the prevalence of cardiac geometric and mechanical function abnormalities through the analysis of advanced echocardiographic parameters in children with autosomal recessive polycystic kidney disease (ARPKD).

Aim: The purpose of this study was to evaluate cardiac geometry and function through advanced echocardiography in a well-characterized sample of pediatric patients with ARPKD.

Methods: Standard echocardiograms were obtained in 27 children with ARPKD (0-18 years) and in 88 healthy children of similar age, gender distribution, and body build. Left ventricular (LV) hypertrophy was defined as LV mass > 45g/(m2.16 + 0.09) and cardiac remodeling was defined by age-adjusted relative wall thickness (RWT). Systolic function was assessed by ejection fraction, midwall fractional shortening (mFS), and global longitudinal (GLS) and circumferential strain (GCS).

Results: Patients with ARPKD exhibited a higher LV mass index as compared to controls, and a more concentric LV geometry (both p < 0.001). Accordingly, the prevalence of abnormal LV geometry was significantly higher in ARPKD (33 vs. 0%; p < 0.005). No differences could be observed in the two groups for ejection fraction or GLS (both p = n.s.), while a significantly lower mFS (p < 0.05) as well as GCS (p < 0.001) could be observed. In the analysis of covariance, both LV mass index and RWT remained significantly higher in the ARPKD group, while mFS and GCS remained significantly lower (all p < 0.05). The prevalence of subclinical systolic dysfunction was significantly higher in patients with ARPKD as compared with control subjects (33 vs. 0%; p < 0.001).

Conclusions: Children with ARPKD show significantly impaired cardiac phenotype, characterized by high rates of LV abnormal geometry paired with systolic mechanical dysfunction.

Keywords: Autosomal recessive polycystic kidney disease; Echocardiography; Function; Pediatrics; Strain.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Echocardiography, Doppler / methods*
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / physiopathology
  • Heart Ventricles / diagnostic imaging*
  • Heart Ventricles / physiopathology
  • Humans
  • Infant
  • Infant, Newborn
  • Italy / epidemiology
  • Male
  • Polycystic Kidney, Autosomal Recessive / diagnosis*
  • Prevalence
  • Stroke Volume / physiology*
  • Ventricular Function, Left / physiology*