1. bookVolume 2 (2017): Issue 4 (December 2017)
Journal Details
License
Format
Journal
eISSN
2501-8132
First Published
30 Mar 2016
Publication timeframe
4 times per year
Languages
English
access type Open Access

Biventricular Hypertrophic Cardiomyopathy in a Child with LEOPARD Syndrome: a Case Report

Published Online: 20 Mar 2018
Volume & Issue: Volume 2 (2017) - Issue 4 (December 2017)
Page range: 345 - 348
Received: 23 Oct 2017
Accepted: 07 Nov 2017
Journal Details
License
Format
Journal
eISSN
2501-8132
First Published
30 Mar 2016
Publication timeframe
4 times per year
Languages
English
Abstract

Background: LEOPARD syndrome is a complex dysmorphogenetic disorder of inconstant penetrance and various morphologic expressions. The syndrome is an autosomal dominant disease that features multiple lentigines, electrocardiographic changes, eye hypertelorism, pulmonary valve stenosis or hypertrophic cardiomyopathy, genital malformations, and a delayed constitutional growth hearing loss, which can be associated with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy. No epidemiologic data are available on the real incidence of LEOPARD syndrome; however, this seems to be a rare disease, being often underdiagnosed, as many of its features are mild.

Case presentation: We report the case of a 10-year-old female pediatric patient, diagnosed with obstructive hypertrophic cardiomyopathy at the age of 3 months, and recently diagnosed with LEOPARD syndrome. The patient first presented for a cardiologic examination at the age of 3 months, due to a murmur. She presented failure to thrive and psychomotor retardation, and was diagnosed with biventricular obstructive hypertrophic cardiomyopathy for which she had received high-dose beta-blocker therapy. At the age of 7 years she underwent a biventricular myectomy for relief of outflow tract obstruction, completed with another myectomy after 2 years due to progressive increase of pressure gradient in the left ventricular outflow tract. Prior to the second surgical intervention, multiple lentigines appeared on her skin, and genetic testing revealed the presence of LEOPARD syndrome.

Conclusion: LEOPARD syndrome is a rare disease, which can be very difficult to diagnose, especially based on features other than lentigines. Cardiac involvement in LEOPARD syndrome can be progressive and requires multiple medical and surgical interventions.

Keywords

1. Dzemeshkevich S, Frolova J, Betekhtin M, Shapieva A, Rizun L. The case of a 17-year old male with LEOPARD syndrome. Journal of Cardiology Cases. 2013;7:e37-e41.10.1016/j.jccase.2012.10.006Search in Google Scholar

2. Carcavilla A, Santome JL, Pinto I, et al. LEOPARD Syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. Rev Esp Cardiol. 2013;66:350-356.10.1016/j.recesp.2012.09.017Open DOISearch in Google Scholar

3. Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis. 2008;3:13.10.1186/1750-1172-3-13Search in Google Scholar

4. Ganigara M, Prabhu A, Kumar RS. LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. Ann Pediatr Card. 2011;4:74-76.10.4103/0974-2069.79631Search in Google Scholar

5. Digilio MC, Sarkozy A, De Zorzi A, et al. LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet. 2006;140:740-746.10.1002/ajmg.a.31156Search in Google Scholar

6. Sarkozy A, Schirinzi A, Lepri F, et al. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes. Am J Med Genet A. 2007;143A:1009-1011.10.1002/ajmg.a.31666Search in Google Scholar

7. Tartaglia M, Martinelli S, Stella L, et al. Diversity and functional consequences of germline and somatic PTPN11 Mutations in human disease. Am J Human Genet. 2006;78:279-290.10.1086/499925Search in Google Scholar

8. Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome. Case report and review of the literature. Am J Med. 1976;60:447-456.10.1016/0002-9343(76)90764-6Search in Google Scholar

9. Limongelli G, Pacileo G, Marino B, et al. Prevalence and clinical significance of cardiovascular abnormalities in patients with LEOPARD syndrome. Am J Cardiol. 2007;100:736-741.10.1016/j.amjcard.2007.03.093Open DOISearch in Google Scholar

10. Limongelli G, Sarkozy A, Pacileo G, et al. Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet Part A. 2008;146:620-628.10.1002/ajmg.a.32206Search in Google Scholar

11. Toganel R. Critical congenital heart disease as life-threatening conditions in the Emergency Room. Journal of Cardiovascular Emergencies. 2016;2:7-10.10.1515/jce-2016-0002Search in Google Scholar

12. Woywodt A, Welzel J, Haase H, et al. Cardiomyopathic Lentiginosis/LEOPARD Syndrome presenting as sudden cardiac arrest. Chest. 1998;113:1415-1417.10.1378/chest.113.5.1415Search in Google Scholar

Recommended articles from Trend MD

Plan your remote conference with Sciendo