Gene Variants Drive Heart Risks in Polycystic Kidney Disease

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).

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.

 

https://www.medscape.com/viewarticle/gene-variants-drive-heart-risks-polycystic-kidney-disease-2025a1000qwo

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