The non-compacted myocardium in patients with hemochromatosis: a phenomenon or cardiopathy? The role of magnetic resonance imaging and molecular genetics in diagnosis

This article presents the results of studies on high prevalence of left ventricular noncompaction (LVNC) in patients with secondary hemochromatosis (SH). We also included case reports of patients with SH and LVNC and compared imaging data using modified modern criteria for LVNC and molecular genetic testing (MGT). In  patients with cardiac hemochromatosis, left ventricular noncompaction is noted, the nature of which is most likely secondary. In order to confirm this hypothesis, a prospective observational study, including family screening and MGT, is required.

1. Jenni R, Oechslin EN, Van Der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. 2007;93(1):11-5. doi:10.1136/hrt.2005.082271.

2. Stöllberger C, Gerecke B, Finsterer J, Engberding R. Refinement of echocardiographic criteria for left ventricular noncompaction. International journal of cardiology. 2013;165(3):463-7. doi:10.1016/j.ijcard.2011.08.845.

3. Gati S, Chandra N, Bennett RL, et al. Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart. 2013;99(6):401-8. doi:10.1136/heartjnl-2012-303418.

4. Gati S, Papadakis M, Van Niekerk N, et al. Increased left ventricular trabeculation in individuals with sickle cell anaemia: Physiology or pathology? Int J Cardiol. 2013;168(2):1658- 60. doi:10.1016/j.ijcard.2013.03.039.

5. Gati S, Papadakis M, Papamichael ND, et al. Reversible de novo left ventricular trabeculations in pregnant women: Implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation. 2014;130(6):475-83. doi:10.1161/CIRCULATIONAHA.114.008554.

6. Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circ J. 1990;83:507-17.

7. 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(6):666-71. doi:10.1136/heart.86.6.666.

8. Petersen SE, Selvanayagam JB, Wiesmann F, et al. Left Ventricular Non-Compaction. J Am Coll Cardiol. 2005;46(1):101-5. doi:10.1016/j.jacc.2005.03.045.

9. Jacquier A, Thuny F, Jop B, 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. doi:10.1093/eurheartj/ehp595.

10. Grothoff M, Pachowsky M, Hoffmann J, et al. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol. 2012;22(12):2699-709. doi:10.1007/s00330-012-2554-7.

11. Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328-43. doi:10.1002/hep.24330.

12. Brissot P, Cavey T, Ropert M, et al. Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management. Presse Med. 2017;46(12Pt2):e288-e295. doi:10.1016/j.lpm.2017.05.037.

13. Wells RA, Leber B, Buckstein R, et al. Iron overload in myelodysplastic syndromes: A Canadian consensus guideline. Leuk Res. 2008;32(9):1338-53. doi:10.1016/j.leukres.2008.02.021.

14. Carpenter JP, He T, Kirk P, et al. On T2* magnetic resonance and cardiac iron. Circulation. 2011;123(14):1519-28. doi:10.1161/CIRCULATIONAHA.110.007641.

15. Anderson LJ, Holden S, Davis B, et al. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 2001;22(23):2171-9. doi:10.1053/euhj.2001.2822.

16. Pepe A, Positano V, Santarelli MF, et al. Multislice multiecho T2* cardiovascular magnetic resonance for detection of the heterogeneous distribution of myocardial iron overload. J Magn Reson Imaging. 2006;23(5):662-8. doi:10.1002/jmri.20566.

17. Wood JC. Editorial: History and current impact of cardiac magnetic resonance imaging on the management of iron overload. Circulation. 2009;120(20):1937-9. doi:10.1161/CIRCULATIONAHA.109.907196.

18. Piga A, Longo F, Musallam KM, et al. Left ventricular noncompaction in patients with β-thalassemia: Uncovering a previously unrecognized abnormality. Am J Hematol. 2012;87(12):1079-83. doi:10.1002/ajh.23323.

19. Chiodi E, Nardozza M, Gamberini MR, et al. Left ventricle remodeling in patients with β-thalassemia major. An emerging differential diagnosis with left ventricle noncompaction disease. Clinical Imaging. 2017;45:58-64. doi:10.1016/j.clinimag.2017.05.010.

20. Myasnikov RP, Shcherbakova NV, Kulikova ОV, et al. Des gene mutation in a family of proband with myofibrillary myopathy and non-compaction cardiomyopathy, resulted in cardiac transplantation. Russian Journal of Cardiology. 2017;(10):9-16. (In Russ.) doi:10.15829/1560-4071-2017-10-9-16.

21. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. doi:10.1038/gim.2015.30.