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Published on: June 23, 2015
Noncompaction of the Ventricular Myocardium and Polycystic Kidney Disease: A Case Report
Keiko Fukino1, Junpei Ishiwata1, Hiroki Shinohara1
1Department of Cardiovascular Medicine, Teikyo University Chiba Medical Center, Ichihara, Chiba, Japan.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) can affect the heart. This case report details a patient with ADPKD and impaired left ventricular function due to noncompaction of the ventricular myocardium and a secondary left ventricular aneurysm.
Area of Science:
- Cardiology
- Genetics
- Nephrology
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disorder affecting kidneys and other organs.
- Cardiovascular complications like valvular abnormalities and aortic aneurysms are known associations with ADPKD.
- Impaired left ventricular function has been occasionally reported in ADPKD patients.
Observation:
- A 74-year-old woman with ADPKD presented with exertional dyspnea.
- Diagnostic workup revealed impaired left ventricular function attributed to noncompaction of the ventricular myocardium (NVM).
- A secondary left ventricular aneurysm was identified, with myocardial ischemia from NVM as the presumed cause.
Findings:
- This case represents the first reported instance of concurrent isolated NVM and left ventricular aneurysm in a patient with ADPKD.
- Cardiac sarcoidosis and ischemic heart disease were excluded as causes.
- The findings highlight a potential link between ADPKD and specific cardiomyopathies.
Implications:
- The co-occurrence of ADPKD and NVM, both linked to sarcomere gene mutations, suggests a shared genetic or molecular pathway.
- Further research into the genetic underpinnings may reveal new therapeutic targets for cardiovascular complications in ADPKD.
- This case broadens the understanding of cardiovascular manifestations in ADPKD, emphasizing the need for cardiac evaluation.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, characterized by the formation of multiple cysts in the kidneys and other organs, as well as noncystic manifestations such as cerebral aneurysm. The most common cardiovascular disorders associated with ADPKD include valvular abnormalities and aortic aneurysm. An association between ADPKD and impaired left ventricular function has occasionally been reported. We describe a 74-year-old woman with ADPKD and exertional dyspnea. Impaired left ventricular function resulting from noncompaction of the ventricular myocardium (NVM) and secondary left ventricular aneurysm were diagnosed. Cardiac sarcoidosis and ischemic heart disease were ruled out. Myocardial ischemia resulting from NVM was the presumptive cause of the ventricular aneurysm. To our knowledge, this is the first report of concurrent isolated NVM and left ventricular aneurysm in a patient with ADPKD. ADPKD and various cardiomyopathies, including NVM, are all reported to involve mutations of sarcomere genes, suggesting a possible link between the conditions.
