TOPLINE:

In patients with autosomal dominant polycystic kidney disease (ADPKD), left ventricular hypertrophy was independently associated with PKD1 gene mutations, and mitral valve prolapse was associated with truncating PKD1 mutations.

METHODOLOGY:

• Researchers conducted a study to evaluate the prevalence of cardiac abnormalities and their associations with renal severity, systemic features, and PKD1/PKD2 genotype in 154 patients (mean age, 48 years; 49% women) with ultrasound-confirmed ADPKD.
• Genetic testing was performed in 87 patients to identify PKD1 and PKD2 mutations; 53 patients (61%) carried PKD1 mutations (31 truncating and 22 non-truncating), and 34 patients (39%) had PKD2 mutations.
• Left ventricular hypertrophy and valvular abnormalities were assessed using transthoracic echocardiography.
• Participants underwent abdominal ultrasonography for renal diameter measurements, cranial MRI for assessing intracranial cysts and aneurysms, and blood chemistry tests.

TAKEAWAY:

• Left ventricular hypertrophy was found in 30% of patients and was independently associated with PKD1 mutations compared with that associated with PKD2 mutations (adjusted odds ratio [aOR], 8.5; P = .008).
• Mitral valve prolapse was observed in 23% of patients and was significantly associated with truncating PKD1 mutations (aOR, 3.95; P = .037).
• Interventricular septal thickness was positively correlated with renal diameter (correlation coefficient [r], +0.32) and negatively correlated with the estimated glomerular filtration rate (r, -0.39; P < .001 for both).

IN PRACTICE:

"Knowing a patient's genotype, particularly distinguishing PKD1 from PKD2 and identifying truncating PKD1 mutations, could potentially guide the frequency and intensity of cardiovascular screening (echocardiography, blood pressure monitoring) and inform therapeutic decisions," the authors wrote.

SOURCE:

This study was led by Giulia Condello, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. It was published online on October 01, 2025, in Clinical Kidney Journal.

LIMITATIONS:

The retrospective, single-centre design may have introduced selection bias and limited generalisability. The reliance on clinical echocardiographic reports could have led to interobserver variability, and left ventricular hypertrophy was defined by interventricular septum thickness rather than by the potential left ventricular mass index, which may be less robust. Additionally, the cross-sectional approach also prevented establishing causality or assessing disease progression over time.

DISCLOSURES:

No funding information was provided for this study. The authors declared having no conflicts of interest.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.