Might there be an association between polycystic kidney desease and noncompaction of the ventricular myocardium?

Lubrano, Riccardo; Versacci, Paolo; Guido, Giuliana; Bellelli, E.; Andreoli, G; Elli, Marco

doi:10.1093/ndt/gfp499

Cited by 12 publications

(7 citation statements)

References 11 publications

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“…As discussed above, our present scheme of PKD2‐autophagy‐apoptosis may be particularly relevant in ADPKD and ischemic heart diseases. In this regard, although the main clinical symptoms of ADPKD usually manifest at middle age, cardiac abnormality is also observed at early age . Ischemic heart diseases may also happen in some children/infants .…”

Section: Discussionmentioning

confidence: 99%

Polycystin-2 Plays an Essential Role in Glucose Starvation-Induced Autophagy in Human Embryonic Stem Cell-Derived Cardiomyocytes

et al. 2018

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Autophagy is a process essential for cell survival under stress condition. The patients with autosomal dominant polycystic kidney disease, which is caused by polycystin-1 or polycystin-2 (PKD2) mutation, display cardiovascular abnormalities and dysregulation in autophagy. However, it is unclear whether PKD2 plays a role in autophagy. In the present study, we explored the functional role of PKD2 in autophagy and apoptosis in human embryonic stem cell-derived cardiomyocytes. HES2 hESC line-derived cardiomyocytes (HES2-CMs) were transduced with adenoviral-based PKD2-shRNAs (Ad-PKD2-shRNAs), and then cultured with normal or glucose-free medium for 3 hours. Autophagy was upregulated in HES2-CMs under glucose starvation, as indicated by increased microtubule-associated protein 1 light chain 3-II level in immunoblots and increased autophagosome and autolysosome formation. Knockdown of PKD2 reduced the autophagic flux and increased apoptosis under glucose starvation. In Ca measurement, Ad-PKD2-shRNAs reduced caffeine-induced cytosolic Ca rise. Co-immunoprecipitation and in situ proximity ligation assay demonstrated an increased physical interaction of PKD2 with ryanodine receptor 2 (RyR2) under glucose starvation condition. Furthermore, Ad-PKD2-shRNAs substantially attenuated the starvation-induced activation of AMP-activated protein kinase (AMPK) and inactivation of mammalian target of rapamycin (mTOR). The present study for the first time demonstrates that PKD2 functions to promote autophagy under glucose starvation, thereby protects cardiomyocytes from apoptotic cell death. The mechanism may involve PKD2 interaction with RyR2 to alter Ca release from sarcoplasmic reticulum, consequently modulating the activity of AMPK and mTOR, resulting in alteration of autophagy and apoptosis. Stem Cells 2018;36:501-513.

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Section: Discussionmentioning

confidence: 99%

Polycystin-2 Plays an Essential Role in Glucose Starvation-Induced Autophagy in Human Embryonic Stem Cell-Derived Cardiomyocytes

et al. 2018

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“…al. 22) describing an association between ADPKD and NVM, where cardiomyopathy was proved as a consequence of NVM. Author also mentions two reported cases in the literature where adults with PKD and myocardial hypertrophy secondary to NVM.…”

Section: Discussionmentioning

confidence: 99%

Non-compaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism

et al. 2020

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Non-compaction of ventricular myocardium is a rare cardiomyopathy involving an early arrest of normal compaction of myocardium during fetal ontogenesis. Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary nephropathy characterised by multiple renal cysts replacing the renal parenchyma and extrarenal manifestations. Here, we report a case of 65-year-old man, chronic smoker, presented with sudden onset right brachial monoparesis, exertional dyspnoea, orthopnoea, bipedal swelling and diagnosed as a case of ADPKD with left ventricular non-compaction cardiomyopathy with acute left ventricular failure and cardiogenic cerebral embolism (no evidence of atrial fibrillation); based on characteristic appearance on two-dimensional echocardiography and cardiac magnetic resonance. The patient was managed with guideline-directed pharmacotherapy for heart failure and anticoagulation as a secondary stroke prevention measure. Through this case report, we try to discuss the association between two rare entities and individualisation of treatment options available as a case-based approach, as no standard treatment guidelines are available.

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“…Twelve additional cases of LVNC in patients with ADPKD, not including our 2 cases, have been reported in the literature. 27 , 55 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 ( Table 3 ). Cardiac enlargement was reported in 9.5% of 426 patients with ADPKD in a survey study at the University of Colorado.…”

Section: Discussionmentioning

confidence: 99%

“…2007 73 Female, 59 yr CVA Cre 1.2 mg/dl Lubrano et al. 2009 66 Newborn HF Stable Villacorta et al. 2010 b 67 Female, 65 yr HF HD Villacorta et al.…”

Section: Discussionmentioning

confidence: 99%

Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies

Chebib

Hogan

El-Zoghby

et al. 2017

Kidney International Reports

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IntroductionMutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). Experimental evidence suggests an important role of the polycystins in cardiac development and myocardial function. To determine whether ADPKD may predispose to the development of cardiomyopathy, we have evaluated the coexistence of diagnoses of ADPKD and primary cardiomyopathy in our patients.MethodsClinical data were retrieved from medical records for patients with a coexisting diagnosis of ADPKD and cardiomyopathies evaluated at the Mayo Clinic (1984–2015).ResultsAmong the 58 of 667 patients with available echocardiography data, 39 (5.8%) had idiopathic dilated cardiomyopathy (IDCM), 17 (2.5%) had hypertrophic obstructive cardiomyopathy, and 2 (0.3%) had left ventricular noncompaction. Genetic data were available for 19, 8, and 2 cases of IDCM, hypertrophic obstructive cardiomyopathy, and left ventricular noncompaction, respectively. PKD1 mutations were detected in 42.1%, 62.5%, and 100% of IDCM, hypertrophic obstructive cardiomyopathy, and left ventricular noncompaction cases, respectively. PKD2 mutations were detected only in IDCM cases and were overrepresented (36.8%) relative to the expected frequency in ADPKD (15%). In at least 1 patient from 3 IDMC families and 1 patient from a hypertrophic obstructive cardiomyopathy family, the cardiomyopathy did not segregate with ADPKD, suggesting that the PKD mutations may be predisposing factors rather than solely responsible for the development of cardiomyopathy.DiscussionCoexistence of ADPKD and cardiomyopathy in our tertiary referral center cohort appears to be higher than expected by chance. We suggest that PKD1 and PKD2 mutations may predispose to primary cardiomyopathies and that genetic interactions may account for the observed coexistence of ADPKD and cardiomyopathies.

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Might there be an association between polycystic kidney desease and noncompaction of the ventricular myocardium?

Cited by 12 publications

References 11 publications

Polycystin-2 Plays an Essential Role in Glucose Starvation-Induced Autophagy in Human Embryonic Stem Cell-Derived Cardiomyocytes

Polycystin-2 Plays an Essential Role in Glucose Starvation-Induced Autophagy in Human Embryonic Stem Cell-Derived Cardiomyocytes

Non-compaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism

Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies

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