https://orcid.org/0009-0008-4618-0664
A 34-year-old normotensive woman with autosomal dominant polycystic kidney disease (ADPKD) was referred for follow-up due to dilated cardiomyopathy (DCM).
Her electrocardiogram indicated left ventricular hypertrophy and repolarization abnormalities (see Supplementary data, Supplementary data online, Figure S1). Cardiovascular magnetic resonance (CMR) showed a dilated left ventricle (112 mL/m2)—only minimally progressive over 10 years of follow-up—with mildly reduced left ventricular ejection fraction (49%) and asynchronous ventricular contraction (see Supplementary data, Supplementary data online, Video S1). Mitral valve prolapse and ‘pseudo’ mitral annular disjunction were present, alongside mild pleural and moderate pericardial effusions (Figure 1A and B; see Supplementary data, Supplementary data online, Video S2).
CMR performed at 1.5 T: (A) CMR four-chamber CINE view with dilatation of all cardiac chambers, mild left pleural effusion (chevron arrow), and mild pericardial effusion (triangular arrow, also in Figure B). (B) CMR three-chamber CINE view with mitral valve prolapse and ‘pseudo’ mitral annular disjunction of 11 mm (notched arrow). (C) Late gadolinium enhancement (LGE) image acquired after 10 min after contrast injection showing no LGE enhancement. (D) CMR ECV map with an elevated myocardial ECV of 39%. (E) CMR native T1-mapping showing normal T1 values. (F) Abdominal magnetic resonance imaging showing progression in size and number of liver and kidney cysts over a period of 10 years.
CMR revealed absence of myocardial oedema or focal fibrosis (Figure 1C) but an elevated myocardial extracellular volume (ECV) of 39% (Figure 1D). Native T1-mapping (Figure 1E) as well as native T2-mapping values were normal. There was notable progression in liver and kidney cysts compared with previous images over 10 years (Figure 1F).
The findings were interpreted as progressive ADPKD, leading to DCM and elevated myocardial ECV, likely due to increased extracellular matrix deposition and diffuse myocardial fibrosis. The patient is managed with optimal medical heart failure therapy and monitored by nephrologists.
Cardiovascular manifestation in ADPKD was traditionally linked to hypertension from cyst-induced renal vasculature compression. Emerging evidence suggests the dysfunction of polycystins (particularly PC-1 and PC-2) plays a crucial role in cardiovascular pathology. This dysfunction affects calcium signalling (arrhythmias), valvulogenesis (mitral valve prolapse and mitral annular disjunction), cardiomyocyte proliferation, and fibrosis regulation, as well as dysregulation of mammalian target of rapamycin, an important regulator of autophagy.
Cardiomyopathy associated with ADPKD is complex and its prevalence may be underestimated, potentially warranting individualized screening and monitoring by nephrologists and cardiologists, including regular echocardiography, arrhythmia and heart failure evaluation and management. Coronary calcium scoring for the early detection of premature coronary artery disease in this patient’s context might be recommendable.
Supplementary data
Supplementary data are available at European Heart Journal – Imaging Methods and Practice online.
Funding: None declared.
Data availability: The data underlying this article are available in the article and in its online supplementary material.
Lead author biography
Franja Dugar graduated from the Faculty of Medicine at University of Ljubljana, Slovenia, in 2021. She is currently a radiology resident at the University Hospital Basel, Switzerland. She has a special interest in cardiovascular and thoracic imaging.
Author notes
Conflict of interest: None declared.
