A rare cardiac manifestation in autosomal-dominant polycystic kidney disease

Area of Science:

• Cardiology
• Nephrology
• Genetics

Background:

• Autosomal-dominant polycystic kidney disease (ADPKD) is a genetic disorder with known extrarenal manifestations.
• Cardiovascular complications in ADPKD, such as valvulopathies and vascular ectasia, are documented.
• Information on the specific occurrence and distribution of cardiovascular abnormalities in ADPKD remains limited.

Observation:

• A 37-year-old female patient diagnosed with ADPKD presented with advanced renal failure.
• Pelvic computed tomography confirmed bilateral kidney cysts, characteristic of ADPKD.
• Transthoracic echocardiography revealed an aneurysm of the atrial septum (ASA).

Findings:

• The patient was asymptomatic despite the presence of ASA.
• This case highlights ASA as a very rare cardiovascular manifestation in ADPKD patients.
• The co-occurrence of advanced renal failure and ASA in this ADPKD patient is noteworthy.

Implications:

• Further research is warranted to understand the prevalence and clinical significance of ASA in ADPKD.
• Echocardiographic screening for cardiovascular abnormalities may be beneficial in ADPKD patients.
• This finding expands the spectrum of known extrarenal complications associated with ADPKD.