Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease

• Published in: The New England journal of medicine Vol. 319; no. 14; pp. 907 - 912
• Main Authors: Hossack, Kenneth F, Leddy, Cheryl L, Johnson, Ann M, Schrier, Robert W, Gabow, Patricia A
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 06.10.1988
• Subjects: Abdomen; Adult; Age; Aorta; Aortic Valve Insufficiency - diagnosis; Aortic Valve Insufficiency - etiology; Biological and medical sciences; Cysts; Doppler effect; Echocardiography; Extracellular matrix; Female; Genes, Dominant; Heart diseases; Heart Valve Diseases - diagnosis; Heart Valve Diseases - etiology; Humans; Kidney diseases; Kidney transplantation; Kidneys; Male; Malformations of the urinary system; Medical sciences; Medicine; Mitral Valve Insufficiency - diagnosis; Mitral Valve Insufficiency - etiology; Mitral Valve Prolapse - diagnosis; Mitral Valve Prolapse - etiology; Nephrology. Urinary tract diseases; Polycystic kidney; Polycystic Kidney Diseases - complications; Polycystic Kidney Diseases - genetics; Population; Sodium; Tricuspid Valve Insufficiency - diagnosis; Tricuspid Valve Insufficiency - etiology; Values; Urinary system disease; Echocardiography; Cardiac valvular disease; Malformation; Polycystic kidney; Ultrasonic investigation; Cardiovascular disease; Kidney
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM198810063191404

Echocardiography, including Doppler analysis, was performed to assess the prevalence of cardiac abnormalities in 163 patients with autosomal dominant polycystic kidney disease, 130 unaffected family members, and 100 control subjects. In these three groups, the prevalence of mitral-valve prolapse was 26, 14, and 2 percent, respectively (P<0.0005). A higher prevalence of mitral incompetence (31, 14, and 9 percent, respectively; P<0.005), aortic incompetence (8, 3, and 1 percent, respectively; P<0.05), tricuspid incompetence (15, 7, and 4 percent, respectively; P<0.02), and tricuspid-valve prolapse (6, 2, and 0 percent, respectively; P<0.02) was also found in the patients with polycystic kidney disease. These findings reflect the systemic nature of polycystic kidney disease and support the hypothesis that the disorder involves a defect in the extracellular matrix and the cardiac abnormalities are an expression of that defect. (N Engl J Med 1988; 319:907–12.) ALTHOUGH renal cysts are the distinguishing feature of autosomal dominant polycystic kidney disease, frequent extrarenal manifestations include liver cysts, 1 2 3 4 diverticulosis, 5 berry aneurysms, 6 abdominal aortic aneurysms, 7 and annuloaortic ectasia. 8 The fact of this systemic involvement, as well as experimental data suggesting a disordered synthesis of extracellular matrix, 9 10 11 led to the hypothesis that autosomal dominant polycystic kidney disease is a disorder of connective tissue. Marfan's syndrome, Ehlers–Danlos syndrome, osteogenesis imperfecta, and pseudoxanthoma elasticum — all disorders of the extracellular matrix — are associated with an increased frequency of cardiac valvular abnormalities. Marfan's syndrome and Ehlers–Danlos syndrome 12 are characterized by a Type III . . .