LEOPARD syndrome
https://doi.org/10.18087/cardio.2020.3.n944
Abstract
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with autosomal dominant inheritance. Prevalence of this syndrome is unknown. One of pathognomonic clinical manifestations of this syndrome is the presence of multiple lentiginous pigment spots all over the body. The most common cardiac manifestation (approximately 80%) is myocardial hypertrophy. We presented a rare clinical case of detecting LEOPARD syndrome with multiple lentigines in a 32-year old female patient with major manifestations evident as pronounces morpho-functional alterations, myocardial hypertrophy, and heart rhythm disorders.
About the Authors
S. A. Gabrusenko
Russian Cardiology Research and Production Complex, Ministry of Health of Russia
Russian Federation
MD
Russian Federation
MD
M. A. Saidova
Russian Cardiology Research and Production Complex, Ministry of Health of Russia
Russian Federation
MD
Russian Federation
MD
O. V. Stukalova
Russian Cardiology Research and Production Complex, Ministry of Health of Russia
Russian Federation
MD
Russian Federation
MD
Kh. M. Dzaurova
Russian Cardiology Research and Production Complex, Ministry of Health of Russia
Russian Federation
Posrgraduate
Russian Federation
Posrgraduate
N. V. Meladze
Russian Cardiology Research and Production Complex, Ministry of Health of Russia
Russian Federation
Researcher
Russian Federation
Researcher
References
1. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS et al. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2011;58(25):e212–60. DOI: 10.1016/j.jacc.2011.06.011
2. ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). European Heart Journal. 2014;35(39):2733–79. DOI: 10.1093/eurheartj/ehu284
3. Maron BJ, Maron MS, Maron BA, Loscalzo J. Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2019;73(15):1978–86. DOI: 10.1016/j.jacc.2019.01.061
4. Sabater-Molina M, Pérez-Sánchez I, Hernández del Rincón JP, Gimeno JR. Genetics of hypertrophic cardiomyopathy: A review of current state. Clinical Genetics. 2018;93(1):3–14. DOI: 10.1111/cge.13027
5. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2009;54(3):201–11. DOI: 10.1016/j.jacc.2009.02.075
6. Seidman JG, Seidman C. The Genetic Basis for Cardiomyopathy. Cell. 2001;104(4):557–67. DOI: 10.1016/S0092-8674(01)00242-2
7. Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C et al. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. Journal of Medical Genetics. 2013;50(4):228–39. DOI: 10.1136/jmedgenet-2012-101270
8. Watkins H, Ashrafian H, Redwood C. Inherited Cardiomyopathies. New England Journal of Medicine. 2011;364(17):1643–56. DOI: 10.1056/NEJMra0902923
9. Coats CJ, Elliott PM. Genetic biomarkers in hypertrophic cardiomyopathy. Biomarkers in Medicine. 2013;7(4):505–16. DOI: 10.2217/bmm.13.79
10. Scaglia F. Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease. Pediatrics. 2004;114(4):925–31. DOI: 10.1542/peds.2004-0718
11. Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García-Honrubia A, Pérez I et al. Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2007;50(25):2399–403. DOI: 10.1016/j.jacc.2007.06.062
12. Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP et al. Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children. Circulation. 2005;112(11):1612–7. DOI: 10.1161/CIRCULATIONAHA.105.546481
13. Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry. American Heart Journal. 2012;164(3):442–8. DOI: 10.1016/j.ahj.2012.04.018
14. Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet Journal of Rare Diseases. 2008;3(1):13. DOI: 10.1186/1750-1172-3-13
15. Falk RH. Diagnosis and Management of the Cardiac Amyloidoses. Circulation. 2005;112(13):2047–60. DOI: 10.1161/CIRCULATIONAHA.104.489187
16. Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. European Heart Journal. 2013;34(7):520–8. DOI: 10.1093/eurheartj/ehs123
17. Rapezzi C, Arbustini E, Caforio ALP, Charron P, Gimeno-Blanes J, Helio T et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. European Heart Journal. 2013;34(19):1448–58. DOI: 10.1093/eurheartj/ehs397
18. Gorlin RJ, Anderson RC, Blaw M. Multiple Lentigenes Syndrome. American Journal of Diseases of Children. 1969;117(6):652–62. DOI: 10.1001/archpedi.1969.02100030654006
19. Tajan M, Paccoud R, Branka S, Edouard T, Yart A. The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. Endocrine Reviews. 2018;39(5):676–700. DOI: 10.1210/er.2017-00232
20. Rauen KA. The RASopathies. Annual Review of Genomics and Human Genetics. 2013;14(1):355–69. DOI: 10.1146/annurev-genom-091212-153523
21. Aoki Y, Niihori T, Inoue S, Matsubara Y. Recent advances in RASopathies. Journal of Human Genetics. 2016;61(1):33–9. DOI: 10.1038/jhg.2015.114
22. Martínez-Quintana E, Rodríguez-González F. LEOPARD Syndrome: Clinical Features and Gene Mutations. Molecular Syndromology. 2012;3(4):145–57. DOI: 10.1159/000342251
23. Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome. The American Journal of Medicine. 1976;60(3):447–56. DOI: 10.1016/0002-9343(76)90764-6
24. Rizun L.I., Voronоva T.S., Frolova Yu.V., Raskin V.V., Rumiantseva V.A., Zakliaz’minskaia E.V. et al. Progressive cardiomyopathy by the LEOPARD syndrome. Pirogov Russian Journal of Surgery. 2012;12:56–61. [Russian: Ризун Л.И., Воронова Т.С., Фролова Ю.В., Раскин В.В., Румянцева В.А., Заклязьминская Е.В. и др. Прогрессирующая гипертрофическая кардиомиопатия при синдроме LEOPARD. Хирургия. Журнал имени Н.И. Пирогова. 2012;12:56-61]
25. Golousenko I.Yu., Glebova L.I., Kuleshov A.N. LEOPARD syndrome, LAMB syndrome or disseminated lentigines? Consilium Medicum. Dermatology. 2017;1:48–50. [Russian: Голоусенко И.Ю., Глебова Л.И., Кулешов А.Н. Синдром LEOPARD, синдром LAMB или диссеминированный лентигиноз? Дерматология. Прилижение к журналу Consilium Medicum. 2017;1:48-50]
26. Sanaani A, Fuisz A. Cardiac Magnetic Resonance for Diagnosis and Risk Stratification. Cardiology Clinics. 2019;37(1):27–33. DOI: 10.1016/j.ccl.2018.08.002
27. Maron BJ, Maron MS. The Remarkable 50 Years of Imaging in HCM and How it Has Changed Diagnosis and Management. JACC: Cardiovascular Imaging. 2016;9(7):858–72. DOI: 10.1016/j.jcmg.2016.05.003
28. Al-Khatib SM, Stevenson WG, Ackerman MJ, Bryant WJ, Callans DJ, Curtis AB et al. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: Executive Summary. Journal of the American College of Cardiology. 2018;72(14):1677–749. DOI: 10.1016/j.jacc.2017.10.053
29. O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD). European Heart Journal. 2014;35(30):2010–20. DOI: 10.1093/eurheartj/eht439
30. O’Mahony C, Akhtar MM, Anastasiou Z, Guttmann OP, Vriesendorp PA, Michels M et al. Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis. Heart. 2018;105(8):623–31. DOI: 10.1136/heartjnl-2018-313700
31. Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K et al. Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. American Journal of Medical Genetics Part A. 2011;155(10):2529–33. DOI: 10.1002/ajmg.a.34194
Review
For citations:
Gabrusenko S.A., Saidova M.A., Stukalova O.V., Dzaurova Kh.M., Meladze N.V. LEOPARD syndrome. Kardiologiia. 2020;60(3):137-141. (In Russ.) https://doi.org/10.18087/cardio.2020.3.n944
Views:
4027
Email this article 
Post a Comment 
