Cardiac Manifestations in Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Single-Center Study

Abstract

Background: ADPKD is the most common monogenetic kidney disease and results in kidney failure in over 75% of affected individuals. As a systemic disorder, ADPKD is associated with a variety of extrarenal manifestations affecting the majority of patients including cardiac manifestations. We characterized the cardiac involvement in ADPKD patients from the German AD(H)PKD registry and compared them to kidney donor candidates as controls. Methods: In this single-center cohort study, we evaluated 141 ADPKD (44.17 ± 11.23 years) patients from the German AD(H)PKD registry and 60 kidney donor candidates (55.08 ± 10.21 years). All patients underwent clinical examination, abdominal MRI, and transthoracic echocardiography. Results: 65% of ADPKD patients showed hypertrophy of the left ventricle (as defined by an end-diastolic left ventricular septal wall thickness (IVSd) greater than 10mm) compared to 55% in control patients. Mitral regurgitation was the most common finding among 53.57 % of ADPKD patients who exhibited valvular dysfunction, albeit mild in the majority of patients. Interestingly, left ventricular ejection fraction (LV-EF) differed significantly between both groups with higher values in ADPKD patients (63.53±6.38% vs. 60.21±5.72%), while other parameters including IVSd, left ventricular end-diastolic diameter (LVEDD), tricuspid annular plane systolic excursion (TAPSE) and pressure gradients across the aortic and tricuspid valve were similar between groups. Correlations of echocardiographic parameters with markers of disease progression revealed statistically significant associations for aortic root diameter (p = 0.014), the pressure gradient across the aortic valve (AV dPmax) (p = 0.0003) and left ventricular septal wall thickness (IVSd) (p = 0.0001), indicating that rapid kidney disease progression may also be associated with cardiac findings. Conclusion: Cardiovascular abnormalities are prevalent in ADPKD patients. Considering the importance of cardiovascular disease for outcome in CKD, early management and possibly prevention are important goals of any treatment scheme. Consequently, echocardiography should be offered to all ADPKD patients in routine management.

Defining Cardiac Dysfunction in ADPKD

“…Chapman and colleagues reported in 1997 that 41% of patients with ADPKD with a similar eGFR profile and mean age of 41 years had cardiac hypertrophy as measured by left ventricular mass index by echocardiography. 4 In contrast to Arjune and colleagues, 3 baseline analysis of the HALT-polycystic kidney disease (PKD) study of 543 patients with ADPKD reported a much lower prevalence of LVH of 4%. 5 , 6 Where does this jarring discrepancy in reported incidences come from?…”

“… 2 A nuanced understanding of the cardiac phenotype within ADPKD population is required to inform clinical practice. The recent study by Arjune and colleagues 3 of 141 patients with ADPKD from the German AD(H)PKD registry provides a comprehensive echocardiographic examination of cardiovascular function in the tolvaptan era of ADPKD treatment.…”

“…The primary goal of this study 3 was to determine the association between ADPKD and various cardiac manifestations as being an early risk factor for cardiovascular complications contributing to mortality, with the hope that identifying these cardiac manifestations would facilitate early intervention in the ADPKD patient population. The study design consisted of selecting from the 900 patients with ADPKD listed within the German AD(H)PKD registry.…”

“…There are a few surprises that warrant discussion, namely, the higher-than-expected prevalence of LVH (65% of patients with ADPKD) and mitral valve regurgitation (63% of patients with ADPKD). 3 Both issues will be discussed in turn. LVH has been long associated with ADPKD.…”

“…A second finding worth discussion is the prevalence of mild mitral valve regurgitation in 63% of the patients with ADPKD, compared with 0 instances in the control group. 3 The high prevalence of mitral valve regurgitation could be a result of hypertension because sustained elevated blood pressure increases in both primary and secondary risk of mitral valve regurgitation. 7 In this study, 3 90% of the patients with ADPKD had arterial hypertension compared with 30% in the control group.…”