Cardiovascular abnormalities in patients with autosomal dominant polycystic kidney disease

Abstract

The autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder in nephrology. Two genes have been implicated in the development of the disease: PKD1 on chromosome 16 (85%) and PKD2 on chromosome 4 (15%). ADPKD is clinically characterized by renal and extrarenal involvement indicated by the onset of cystic and non-cystic manifestations. Since cardiovascular complications are a leading cause of morbidity and mortality, this review aims to analyze cardiac and vascular involvement in ADPKD. Hypertension is a common early symptom, and occurs in approximately 60% of patients before renal dysfunction. The effect of hypertension on the progression to end-stage renal disease makes it the main potentially treatable risk factor in ADPKD. Also, left ventricular hypertrophy occurs frequently in these patients representing another powerful and independent risk factor for cardiovascular morbidity and mortality in ADPKD. Other abnormalities, such as biventricular diastolic dysfunction, endothelial dysfunction, and increased carotid intima-media thickness, are present even in young ADPKD patients with normal blood pressure and well-preserved renal function. Intracranial and extracranial aneurysms, as well as cardiac valvular defects, are other common cardiovascular manifestations in patients with ADPKD. Early treatment of hypertension through the use of renin-angiotensin-aldosterone system blocking agents could play a nephroprotective effect and reduce the occurrence of cardiovascular complications in ADPKD patients.