Left Ventricular Noncompaction Cardiomyopathy in 2 Siblings With Underlying Tetralogy of Fallot: A Case Report

Document Type : Case Report

Authors

Rajaie Cardiovascular Medical and Research Institute, Iran University of Medical Sciences, Tehran, IR Iran.

Abstract

Tetralogy of Fallot (TOF) is one of the most common congenital heart diseases. Family recurrence provides strong evidence for the involvement of a genetic component in the susceptibility to TOF. The role of genetic factors is supported by the increased risk of first-degree relatives of patients with TOF. The clinical course of this disease is unclear and unpredictable. We herein describe 2 siblings suffering from TOF with left ventricular noncompaction cardiomyopathy (LVNC) and their clinical course and treatment. LVNC is a rare disease known by prominent trabeculation of the ventricles and reduced systolic function. LVNC can manifest itself in a wide spectrum of symptoms overlapping with other cardiac diagnoses. Familial patterns of disease development and coexistence of cardiac abnormalities are also reported. (Iranian Heart Journal 2024; 25(1): 98-105)

Keywords


  1. Reynen K, Bachmann K, Singer H.Spongy myocardium. Cardiology 1997; 88:601-2.
  2. Stöllberger, C.; Wegner, C.; Finsterer, J. CHADS2- and CHA2DS2VASc scores and embolic risk in left ventricular hypertrabeculation/noncompaction. J. Stroke Cerebrovasc. Dis. 2013, 22, 709–712.
  3. Engberding, R.; Stöllberger, C.; Schneider, B.; Nothnagel, D.; Fehske, W.; Gerecke, B.J. Abstract 14769: Heart Failure in Noncompaction Cardiomyopathy - Data from the German Noncompaction Registry (ALKK). Circulation 2012, 126, A14769.
  4. Howard, T.S.; Valdes, S.O.; Hope, K.D.; Morris, S.A.; Landstrom, A.P.; Schneider, A.E.; Miyake, C.Y.; Denfield, S.W.; Pignatelli, R.H.; Wang, Y.; et al. Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children. J. Card. Fail. 2019, 25, 1004–1008.
  5. Paluszkiewicz J, Milting H, Kałużna-Oleksy M, Pyda M, Janus M, Körperich H, Piran M. Left Ventricular Non-Compaction Cardiomyopathy-Still More Questions than Answers. Journal of Clinical Medicine. 2022;11(14):4135. https://doi.org/10.3390/jcm11144135
  6. Stähli BE, Gebhard C, Biaggi P, Klaassen S, Valsangiacomo Buechel E, Attenhofer Jost CH, Jenni R, Tanner FC, Greutmann M. Left ventricular non-compaction: prevalence in congenital heart disease. Int J Cardiol. 2013 Sep 10; 167(6):2477-81. doi: 10.1016/j.ijcard.2012.05.095. Epub 2012 Jun 15. PMID: 22704867.
  7. Chin T.K., Perloff J.K., Williams R.G., Jue K., Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990; 82:507–513. doi:10.1161/01.CIR.82.2.507.
  8. Stöllberger C, Finsterer J, Blazek G.Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002; 90:899-902
  9. Oechslin EN, Attenhofer Jost CH, Rojas JR, et al.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. Jenni R, Oechslin E, Schneider J, et al.Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86:666-71
  11. Ichida F, Hamamichi Y, Miyawaki T, et al.Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol 1999; 34:233-40
  12. Chin TK, Perloff JK, Williams RG, et al.Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990; 82:507-13
  13. Singh DP, Patel H. Left Ventricular Non-compaction Cardiomyopathy. [Updated 2022 Jul 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537025/
  14. Shemisa K, Li J, Tam M, Barcena J. Left ventricular noncompaction cardiomyopathy. Cardiovasc Diagn Ther. 2013 Sep;3(3):170-5. doi: 10.3978/j.issn.2223-3652.2013.05.04. PMID: 24282766; PMCID: PMC3839206.
  15. Sedaghat-Hamedani F, Haas J, Zhu F, Geier C, Kayvanpour E, Liss M, et al. Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. Eur Heart J. (2017)38:3449–60. doi:10.1093/eurheartj/ehx545
  16. Digilio MC, Marino B, Bevilacqua M, Musolino AM, Gioannotti A, Dallapiccola B, et al. Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium. Am J Med Genet. (1999) 85:90–1. doi: 10.1002/(SICI)1096-8628(19990702)85:1<90::AID-AJMG19>3.0.CO;2-U
  17. Al Hussein, H., Al Hussein, H., Stroe, V., Harpa, M., Ghiragosian, C., Goia, C. M., . . . Suciu, H. (2020). Different Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review. Frontiers in Pediatrics, 8. doi:10.3389/fped.2020.00370
  18. Hussein A, Karimianpour A, Collier P, Krasuski RA. Isolated noncompaction of the left ventricle in adults. J Am Coll Cardiol. (2015) 66:578–85. doi: 10.1016/j.jacc.2015.06.017
  19. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER. Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis. (2013) 7:260–73. doi: 10.1177/1753944713504639
  20. Lilje C, Rázek V, Joyce JJ, Rau T, Finckh BF, Weiss F, et al. Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study. Eur Heart J. (2006) 27:1855–60. doi: 10.1093/eurheartj/ehl112
  21. Karacan M, Olgun H, Yildirim ZK, Ceviz N. Isolated left ventricular noncompaction in children: two cases with different manifestations. Eurasian J Med. (2008) 40:144–7.
  22. Arbustini E, Narula N, Tavazzi L, et al. The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation. J Am Coll Cardiol. 2013; 62(22):2046-72.
  23. Grothoff, M, Pachowsky, M.; Hoffmann, J.; Posch, M.; Klaassen, S.; Lehmkuhl, L.; Gutberlet, M. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur. Radiol. 2012, 22, 2699–2709.
  24. Petersen, S.E.; Selvanayagam, J.B.; Wiesmann, F.; Robson, M.D.; Francis, J.M.; Anderson, R.H.; Watkins, H.; Neubauer, S. Left ventricular non-compaction: Insights from cardiovascular magnetic resonance imaging. J. Am. Coll. Cardiol. 2005, 46, 101–105.
  25. Stacey, R.B.; Andersen, M.M.; St Clair, M.; Hundley, W.G.; Thohan, V. Comparison of systolic and diastolic criteria for isolated LV noncompaction in CMR. JACC Cardiovasc. Imaging 2013, 6, 931–940.
  26. Captur, G.; Muthurangu, V.; Cook, C.; Flett, A.S.; Wilson, R.; Barison, A.; Sado, D.M.; Anderson, S.; McKenna, W.J.; Mohun, T.J.; et al. Quantification of left ventricular trabeculae using fractal analysis. Cardiovasc. Magn. Reson. 2013, 15, 36.
  27. Jacquier, A.; Thuny, F.; Jop, B.; Giorgi, R.; Cohen, F.; Gaubert, J.Y.; Vidal, V.; Bartoli, J.M.; Habib, G.; Moulin, G. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Heart J. 2010, 31, 1098–1104.
  28. Aung, N.; Doimo, S.; Ricci, F.; Sanghvi, M.M.; Pedrosa, C.; Woodbridge, S.P.; Al-Balah, A.; Zemrak, F.; Khanji, M.Y.; Munroe, P.B.; et al. Prognostic Significance of Left Ventricular Noncompaction: Systematic Review and Meta-Analysis of Observational Studies. Circ. Cardiovasc. Imaging 2020, 13, e009712.