[Valvular prolapse in autosomal dominant polycystic kidney]

Area of Science:

• Cardiovascular Medicine
• Genetics
• Nephrology

Background:

• Cardiovascular involvement is a known complication of hereditary connective tissue disorders, often affecting heart valves and arterial walls.
• Recent reports indicate valvular diseases in autosomal dominant conditions, including polycystic kidney (PK) disease.
• Autosomal dominant polycystic kidney (ADPKD) disease is a systemic disorder with known cardiovascular implications.

Purpose of the Study:

• To investigate the prevalence of valvular prolapses in patients with autosomal dominant polycystic kidney disease (ADPKD).
• To compare the incidence of valvular abnormalities in ADPKD patients, their relatives, and a control group.
• To explore the potential link between ADPKD and specific cardiac valve defects.

Main Methods:

• Clinical examinations, chest x-rays, electrocardiograms, and echocardiograms (monobidimensional and Doppler) were used.
• 21 subjects with ADPKD (Group A) and 34 unaffected relatives (Group B) were studied.
• A control group (Group C) of 36 subjects with other kidney diseases, matched for key demographics and renal function, was included.

Main Results:

• Mitral valve prolapse (MVP) was diagnosed in 33.3% of ADPKD patients (Group A) and 23.5% of relatives (Group B).
• Other valvular abnormalities included mitral incompetence, tricuspid valve prolapse, and aortic cusp prolapse in Group A.
• MVP prevalence was significantly higher in Group A and B compared to the control group (2.7%, p < 0.01), indicating a strong association.

Conclusions:

• The high prevalence of valvular abnormalities in ADPKD suggests a shared genetic basis potentially involving a defect in the extracellular matrix.
• An alternative hypothesis proposes the involvement of two closely located genes contributing to both conditions.
• These findings highlight the importance of cardiovascular screening in patients with ADPKD.