Autosomal Dominant Polycystic Kidney Disease and Ventricular Noncompaction: Unanswered Questions

Abstract

The interesting article by Fukino et al1Fukino K. Ishiwata J. Shinohara H. et al.Noncompaction of the ventricular myocardium and polycystic kidney disease: a case report.Am J Kidney Dis. 2016; 67: 945-948Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar about a 74-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) and ventricular noncompaction (left ventricular hypertrabeculation) raises a number of questions. The main concern is that the diagnosis of ADPKD is questionable. Though the authors detected a PKD2 variant, it was not confirmed as causative because the patient’s mother and daughter were not genetically tested. Based on the description of the case, maternal transmission can be assumed. With this in mind, was mitochondrial disorder, previously reported in association with kidney cysts,2Gürgey A. Ozalp I. Rötig A. et al.A case of Pearson syndrome associated with multiple renal cysts.Pediatr Nephrol. 1996; 10: 637-638Crossref PubMed Scopus (34) Google Scholar excluded? Mitochondrial disorder is the condition most frequently associated with left ventricular hypertrabeculation.3Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.Pediatr Cardiol. 2009; 30: 659-681Crossref PubMed Scopus (191) Google Scholar Why was the ventricular aneurysm seen on ventriculography but not on echocardiography? Was previous embolic myocardial infarction, which may complicate left ventricular hypertrabeculation,4Pulignano G. Tinti M.D. Tolone S. et al.Noncompaction and embolic myocardial infarction: the importance of oral anticoagulation.Rev Port Cardiol. 2015; 34: 497.e1-497.e4Google Scholar excluded? Did the relatives also present with ventricular aneurysm? Were cerebral aneurysms detected?5Rozenfeld M.N. Ansari S.A. Mohan P. Shaibani A. Russell E.J. Hurley M.C. Autosomal dominant polycystic kidney disease and intracranial aneurysms: is there an increased risk of treatment?.AJNR Am J Neuroradiol. 2016; 37: 290-293Crossref PubMed Scopus (21) Google Scholar What was the cause of the myocardial fibrosis? Was arrhythmogenic right ventricular dysplasia excluded? Fibrosis also could be due to previous myocarditis.6Youn J.C. Shim H.S. Lee J.S. et al.Detailed pathologic evaluation on endomyocardial biopsy provides long-term prognostic information in patients with acute myocarditis.Cardiovasc Pathol. 2014; 23: 139-144Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar The patient’s daughter had systemic lupus erythematosus. Was autoimmune disease affecting the myocardium excluded? Was myocardial fibrosis confirmed by late enhancement on cardiac magnetic resonance imaging? Though left ventricular hypertrabeculation is frequently associated with genetic disease, a causal relation has never been proved. Impaired myocardial microcirculation has never been confirmed to cause left ventricular hypertrabeculation. Left ventricular hypertrabeculation also may occur in a familial pattern.7Finsterer J. Stöllberger C. Blazek G. Sehnal E. Familal left ventricular hypertrabeculation (noncompaction) is myopathic.Int J Cardiol. 2013; 164: 312-317Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar Was left ventricular hypertrabeculation present in the mother or daughter? The presence of ADPKD, left ventricular hypertrabeculation, and aneurysm in the relatives would suggest a common genetic cause. Because left ventricular hypertrabeculation is frequently associated with ventricular arrhythmias, risk assessment for sudden cardiac death is required. Overall, this interesting patient and her relatives require further cardiac, neurologic, and genetic investigations. Financial Disclosure: The authors declare that they have no relevant financial interests. Peer Review: Evaluated by a Co-Editor and the Editor-in-Chief.