Left Ventricular Non-compaction Cardiomyopathy and Polycystic Kidney Disease Revealed by Inappropriate Polycythemia: A Fortuitous Association? Case Report

1 Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29:270–6. ElliottP AnderssonB ArbustiniE BilinskaZ CecchiF CharronP Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases Eur Heart J 2008 29 270 6 10.1093/eurheartj/ehm34217916581 Search in Google Scholar

2 Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 2000; 36:493–500. OechslinEN Attenhofer JostCH RojasJR KaufmannPA JenniR Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis J Am Coll Cardiol 2000 36 493 500 10.1016/S0735-1097(00)00755-5 Search in Google Scholar

3 Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J. Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol 2007 Oct 1; 121(2):189–93. doi: 10.1016/j.ijcard.2006.11.007. Epub Dec 22 2006. PMID: 17188376. StöllbergerC Winkler-DworakM BlazekG FinstererJ Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity Int J Cardiol 2007 Oct 1 121 2 189 93 10.1016/j.ijcard.2006.11.007 Epub Dec 22 2006. PMID: 17188376. 17188376 Open DOISearch in Google Scholar

4 Oechslin E, Jenni R. Left ventricular noncompaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J 2011; 32:1446–56. OechslinE JenniR Left ventricular noncompaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J 2011 32 1446 56 10.1093/eurheartj/ehq50821285074 Search in Google Scholar

5 Arbustini E, Weidemann F, Hall JL. Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases? J Am Coll Cardiol 2014; 64:1840–50. ArbustiniE WeidemannF HallJL Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases? J Am Coll Cardiol 2014 64 1840 50 10.1016/j.jacc.2014.08.03025443708 Search in Google Scholar

6 Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113:1807–16. MaronBJ TowbinJA ThieneG AntzelevitchC CorradoD ArnettD Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention Circulation 2006 113 1807 16 10.1161/CIRCULATIONAHA.106.17428716567565 Search in Google Scholar

7 Hussein A, Karimianpour A, Collier P, Krasuski RA. Isolated noncompaction of the left ventricle in adults. J Am Coll Cardiol 2015; 66:578–85. HusseinA KarimianpourA CollierP KrasuskiRA Isolated noncompaction of the left ventricle in adults J Am Coll Cardiol 2015 66 578 85 10.1016/j.jacc.2015.06.01726227197 Search in Google Scholar

8 Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117:2893–901. KlaassenS ProbstS OechslinE GerullB KringsG SchulerP Mutations in sarcomere protein genes in left ventricular noncompaction Circulation 2008 117 2893 901 10.1161/CIRCULATIONAHA.107.74616418506004 Search in Google Scholar

9 Hänselmann A, Veltmann C, Bauersachs J, Berliner D. Dilated cardiomyopathies and non-compaction cardiomyopathy. Herz 2020, 45:212–20. HänselmannA VeltmannC BauersachsJ BerlinerD Dilated cardiomyopathies and non-compaction cardiomyopathy Herz 2020 45 212 20 10.1007/s00059-020-04903-5719864432107565 Search in Google Scholar

10 Femia G, Semsarian C, Ross S, Celemajer D, Puranik R. Left ventricular non-compaction: Review of current diagnostic challenges and consequences in athletes. Medicina 2020; 56:697. doi: 10.3390/medicina56120697 FemiaG SemsarianC RossS CelemajerD PuranikR Left ventricular non-compaction: Review of current diagnostic challenges and consequences in athletes Medicina 2020 56 697 10.3390/medicina56120697776492033327510 Open DOISearch in Google Scholar

11 Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990; 82(2):507–13. ChinTK PerloffJK WilliamsRG JueK MohrmannR Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 1990 82 2 507 13 10.1161/01.CIR.82.2.507 Search in Google Scholar

12 Stöllberger C, Finsterer J. Left ventricular hypertrabeculation/noncompaction. JASE 2004; 17(1):91–100. StöllbergerC FinstererJ Left ventricular hypertrabeculation/noncompaction JASE 2004 17 1 91 100 10.1016/S0894-7317(03)00514-514712196 Search in Google Scholar

13 Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86(6):666–71. JenniR OechslinE SchneiderJ Attenhofer JostC KaufmannPA Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy Heart 2001 86 6 666 71 10.1136/heart.86.6.666173001211711464 Search in Google Scholar

14 Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, et al. Left ventricular non-compaction: Insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 2005; 46(1):101–5. PetersenSE SelvanayagamJB WiesmannF RobsonMD FrancisJM AndersonRH Left ventricular non-compaction: Insights from cardiovascular magnetic resonance imaging J Am Coll Cardiol 2005 46 1 101 5 10.1016/j.jacc.2005.03.04515992642 Search in Google Scholar

15 Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY, et al. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non compaction. Eur Heart J 2010; 31(9):1098–104. JacquierA ThunyF JopB GiorgiR CohenF GaubertJY Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non compaction Eur Heart J 2010 31 9 1098 104 10.1093/eurheartj/ehp59520089517 Search in Google Scholar

16 Amzulescu MS, Rousseau MF, Ahn SA, Boileau L, de Ravenstein CDM, Vancraeynest D, et al. Prognostic impact of hypertrabeculation and noncompaction phenotype in dilated cardiomyopathy. J Am Coll Cardiol Img 2015; 8:934–46. AmzulescuMS RousseauMF AhnSA BoileauL de RavensteinCDM VancraeynestD Prognostic impact of hypertrabeculation and noncompaction phenotype in dilated cardiomyopathy J Am Coll Cardiol Img 2015 8 934 46 10.1016/j.jcmg.2015.04.01526189121 Search in Google Scholar

17 Captur G, Lopes LR, Patel V, Bassett P, Syrris P, Sado DM, et al. Abnormal cardiac formation in hypertrophic cardiomyopathy fractal analysis of trabeculae and preclinical gene expression. Circ Cardiovasc Genet 2014; 7:241–8. CapturG LopesLR PatelV BassettP SyrrisP SadoDM Abnormal cardiac formation in hypertrophic cardiomyopathy fractal analysis of trabeculae and preclinical gene expression Circ Cardiovasc Genet 2014 7 241 8 10.1161/CIRCGENETICS.113.00036224704860 Search in Google Scholar

18 Kawel N, Nacif M, Arai AE, Gomes AS, Hundley WG, Johnson WC, et al. Trabeculated (noncompacted) and compact myocardium in adults: the Multi-Ethnic Study of Atherosclerosis. Circ Cardiovasc Imaging 2012; 5:357–66. KawelN NacifM AraiAE GomesAS HundleyWG JohnsonWC Trabeculated (noncompacted) and compact myocardium in adults: the Multi-Ethnic Study of Atherosclerosis Circ Cardiovasc Imaging 2012 5 357 66 10.1161/CIRCIMAGING.111.971713339911522499849 Search in Google Scholar

19 Jonathan R, McCall W, Yeap PM, Papagiorcopulo C, Fitzgerald K, Gandy SJ, et al. Left ventricular noncompaction anatomical phenotype or distinct cardiomyopathy? JACC 2016; 68(20):2157–65. JonathanR McCallW YeapPM PapagiorcopuloC FitzgeraldK GandySJ Left ventricular noncompaction anatomical phenotype or distinct cardiomyopathy? JACC 2016 68 20 2157 65 10.1016/j.jacc.2016.08.054511644327855805 Search in Google Scholar

20 Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol 2010; 6(4):197–206. doi: 10.1038/nrneph.2010.18 HarrisPC RossettiS Molecular diagnostics for autosomal dominant polycystic kidney disease Nat Rev Nephrol 2010 6 4 197 206 10.1038/nrneph.2010.18405043220177400 Open DOISearch in Google Scholar

21 Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF Jr, et al. CRISP Investigators. Volume progression in polycystic kidney disease. N Engl J Med 2006; 354(20):2122. GranthamJJ TorresVE ChapmanAB Guay-WoodfordLM BaeKT KingBFJr CRISP Investigators. Volume progression in polycystic kidney disease N Engl J Med 2006 354 20 2122 10.1056/NEJMoa05434116707749 Search in Google Scholar

22 Wilson PD. Polycystic kidney disease. N Engl J Med 2004; 350(2):151–64. WilsonPD Polycystic kidney disease N Engl J Med 2004 350 2 151 64 10.1056/NEJMra02216114711914 Search in Google Scholar

23 Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 2010; 17(2):173–80. PirsonY Extrarenal manifestations of autosomal dominant polycystic kidney disease Adv Chronic Kidney Dis 2010 17 2 173 80 10.1053/j.ackd.2010.01.00320219620 Search in Google Scholar

24 Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2009; 20(9):1888–93. SchrierRW Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease J Am Soc Nephrol 2009 20 9 1888 93 10.1681/ASN.200808088219696226 Search in Google Scholar

25 Chebib FT, Hogan MC, El-Zoghby ZM, Irazabal MV, Senum SR, Heyer CM, et al. Autosomal dominant polycystic kidney patients may be predisposed to various cardiomyopathies. Kidney Int Rep 2017; 2:913–23. ChebibFT HoganMC El-ZoghbyZM IrazabalMV SenumSR HeyerCM Autosomal dominant polycystic kidney patients may be predisposed to various cardiomyopathies Kidney Int Rep 2017 2 913 23 10.1016/j.ekir.2017.05.014573388329270497 Search in Google Scholar

26 Boulter C, Mulroy S, Webb S, Fleming S, Brindle K, Sandford R. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the PKD1 gene. Proc Natl Acad Sci USA 2001; 98(21):12174–9. BoulterC MulroyS WebbS FlemingS BrindleK SandfordR Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the PKD1 gene Proc Natl Acad Sci USA 2001 98 21 12174 9 10.1073/pnas.2111910985978711593033 Search in Google Scholar

27 Suwa Y, Higo S, Nakamoto K, Sera F, Kunimatsu S, Masumura Y, et al. Old-Age onset progressive cardiac contractile dysfunction in a patient with polycystic kidney disease harboring a PKD1 frameshift mutation. Int Heart J 2019; 60:220–5. SuwaY HigoS NakamotoK SeraF KunimatsuS MasumuraY Old-Age onset progressive cardiac contractile dysfunction in a patient with polycystic kidney disease harboring a PKD1 frameshift mutation Int Heart J 2019 60 220 5 10.1536/ihj.18-18430464138 Search in Google Scholar

28 Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 2005; 42(4):336–49. SharpAM MessiaenLM PageG AntignacC GublerMC OnuchicLF Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts J Med Genet 2005 42 4 336 49 10.1136/jmg.2004.024489173603315805161 Search in Google Scholar

29 Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006; 149(2):159–64. Gunay-AygunM AvnerED BacallaoRL ChoykePL FlynnJT GerminoGG Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a first National Institutes of Health/Office of Rare Diseases conference J Pediatr 2006 149 2 159 64 10.1016/j.jpeds.2006.03.014291841416887426 Search in Google Scholar

30 Anand IS, Gupta P. Anemia and iron deficiency in heart failure current concepts and emerging therapies. Circulation 2018; 138:80–98. AnandIS GuptaP Anemia and iron deficiency in heart failure current concepts and emerging therapies Circulation 2018 138 80 98 10.1161/CIRCULATIONAHA.118.03009929967232 Search in Google Scholar

31 Stuart BJ, Viera AJ. Polycythemia vera. Am Fam Physician 2004; 69(9):2139–44. StuartBJ VieraAJ Polycythemia vera Am Fam Physician 2004 69 9 2139 44 Search in Google Scholar

32 Mullin MF. Idiopathic erythrocytosis: a disappearing entity. Hematology Am Soc Hematol Educ Program 2009;629–35. MullinMF Idiopathic erythrocytosis: a disappearing entity Hematology Am Soc Hematol Educ Program 2009 629 35 10.1182/asheducation-2009.1.62920008248 Search in Google Scholar

33 Moon JY, Chung N, Seo HS, Choi EY, Ha JW, Rim SJ. Noncompaction of the ventricular myocardium combined with polycystic kidney disease. Heart Vessels 2006; 21:195–8. MoonJY ChungN SeoHS ChoiEY HaJW RimSJ Noncompaction of the ventricular myocardium combined with polycystic kidney disease Heart Vessels 2006 21 195 8 10.1007/s00380-005-0859-z16715196 Search in Google Scholar

34 Lau TK, Flamm SD, Stainback RF. Noncompaction of the ventricular myocardium. Circulation 2002; 105:e57. LauTK FlammSD StainbackRF Noncompaction of the ventricular myocardium Circulation 2002 105 e57 10.1161/hc0902.10343111877371 Search in Google Scholar

35 Komeyama M, Nozomi W, Etsuko I, Fukuda H, Yoshida K. Left ventricular non-compaction combined with familial polycystic kidney. J Echocardiogr 2007; 5:61–3. KomeyamaM NozomiW EtsukoI FukudaH YoshidaK Left ventricular non-compaction combined with familial polycystic kidney J Echocardiogr 2007 5 61 3 10.2303/jecho.5.61 Search in Google Scholar

36 Briongos-Figuero S, Ruiz-Rejón F, Jiménez-Nacher JJ, Megías A. Familial non-compaction cardiomyopathy and polycystic kidney disease. Rev Esp Cardiol 2010; 63(4):488–502. Briongos-FigueroS Ruiz-RejónF Jiménez-NacherJJ MegíasA Familial non-compaction cardiomyopathy and polycystic kidney disease Rev Esp Cardiol 2010 63 4 488 502 10.1016/S1885-5857(10)70099-2 Search in Google Scholar

37 Lubrano R, Versacci P, Guido G, Bellelli E, Andreoli G, Elli M. Might there be an association between polycystic kidney disease and noncompaction of the ventricular myocardium? Nephrol Dial Transplant 2009; 24:3884–6. doi: 10.1093/ndt/gfp499 LubranoR VersacciP GuidoG BellelliE AndreoliG ElliM Might there be an association between polycystic kidney disease and noncompaction of the ventricular myocardium? Nephrol Dial Transplant 2009 24 3884 6 10.1093/ndt/gfp49919762607 Open DOISearch in Google Scholar

38 Katukuri NP, Finger J, Vaitkevicius P, Riba A, Spears JR. Association of left ventricular noncompaction with polycystic kidney disease as shown by cardiac magnetic resonance imaging. Tex Heart Inst J 2014; 41(4):449–50. KatukuriNP FingerJ VaitkeviciusP RibaA SpearsJR Association of left ventricular noncompaction with polycystic kidney disease as shown by cardiac magnetic resonance imaging Tex Heart Inst J 2014 41 4 449 50 10.14503/THIJ-13-3868412051725120407 Search in Google Scholar

39 Rani M, Rayput R, Mishra S, Garg R. Noncompaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism. Rare disease case report. BMJ Case Report 2020; 13(1):e232458. RaniM RayputR MishraS GargR Noncompaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism. Rare disease case report BMJ Case Report 2020 13 1 e232458 10.1136/bcr-2019-232458702118331974261 Search in Google Scholar

40 Akhtari S, Kato S, Chang JD, Steinman TI, Manning WJ. There is no association between autosomal dominant polycystic kidney disease and left ventricular non-compaction cardiomyopathy: a cardiac magnetic resonance imaging study. J Cardiovasc Mag Res 2016; 18(Suppl 1):Q47. AkhtariS KatoS ChangJD SteinmanTI ManningWJ There is no association between autosomal dominant polycystic kidney disease and left ventricular non-compaction cardiomyopathy: a cardiac magnetic resonance imaging study J Cardiovasc Mag Res 2016 18 Suppl 1 Q47 10.1186/1532-429X-18-S1-Q47 Search in Google Scholar