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Pulmonic stenosis and deafness

MedGen UID:
357273
•Concept ID:
C1867406
•
Disease or Syndrome
Synonym: PULMONIC STENOSIS AND DEAFNESS
 
Monarch Initiative: MONDO:0008350
OMIM®: 178651

Clinical features

From HPO
Ventricular hypertrophy
MedGen UID:
87400
•Concept ID:
C0340279
•
Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
See: Feature record | Search on this feature
Pulmonic stenosis
MedGen UID:
408291
•Concept ID:
C1956257
•
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G
Circ Genom Precis Med 2023 Aug;16(4):350-358. Epub 2023 May 18 doi: 10.1161/CIRCGEN.122.003861. PMID: 37199218
Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
Yue X, Zhao X, Dai Y, Yu L
Hereditas 2021 Sep 6;158(1):34. doi: 10.1186/s41065-021-00199-5. PMID: 34488904Free PMC Article
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
Zhang J, Shen J, Cheng R, Ni C, Liang J, Li M, Yao Z
Mol Med Rep 2016 Sep;14(3):2639-43. Epub 2016 Jul 27 doi: 10.3892/mmr.2016.5547. PMID: 27484170
Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures.
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J
J Cardiothorac Vasc Anesth 2014 Oct;28(5):1243-50. Epub 2014 Jan 23 doi: 10.1053/j.jvca.2013.09.015. PMID: 24461361
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Diagnosis

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G
Circ Genom Precis Med 2023 Aug;16(4):350-358. Epub 2023 May 18 doi: 10.1161/CIRCGEN.122.003861. PMID: 37199218
LEOPARD Syndrome.
Ghosh SK, Majumdar B, Rudra O, Chakraborty S
Dermatol Online J 2015 Oct 16;21(10) PMID: 26632807
An update on cardiovascular malformations in congenital rubella syndrome.
Oster ME, Riehle-Colarusso T, Correa A
Birth Defects Res A Clin Mol Teratol 2010 Jan;88(1):1-8. doi: 10.1002/bdra.20621. PMID: 19697432
Leopard syndrome.
Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S
Dermatol Online J 2008 Mar 15;14(3):7. PMID: 18627709
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Therapy

Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures.
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J
J Cardiothorac Vasc Anesth 2014 Oct;28(5):1243-50. Epub 2014 Jan 23 doi: 10.1053/j.jvca.2013.09.015. PMID: 24461361
Acute motor and sensory axonal neuropathy in LEOPARD syndrome.
Beukers RJ, van Bellegem AC, Gruppen M, Overweg-Plandsoen WC, Vermeulen M
Pediatr Neurol 2010 Apr;42(4):301-3. doi: 10.1016/j.pediatrneurol.2009.12.001. PMID: 20304339
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.
Laux D, Kratz C, Sauerbrey A
J Pediatr Hematol Oncol 2008 Aug;30(8):602-4. doi: 10.1097/MPH.0b013e31817588fb. PMID: 18799937
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
Uçar C, Calýskan U, Martini S, Heinritz W
J Pediatr Hematol Oncol 2006 Mar;28(3):123-5. doi: 10.1097/01.mph.0000199590.21797.0b. PMID: 16679933
Anaesthetic implications of LEOPARD syndrome.
Torres J, Russo P, Tobias JD
Paediatr Anaesth 2004 Apr;14(4):352-6. doi: 10.1046/j.1460-9592.2003.01189.x. PMID: 15078383

Prognosis

Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
Yue X, Zhao X, Dai Y, Yu L
Hereditas 2021 Sep 6;158(1):34. doi: 10.1186/s41065-021-00199-5. PMID: 34488904Free PMC Article
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.
Galazka P, Jain R, Muthukumar L, Sanders H, Bush M, Jan MF, Jahangir A, Khandheria BK, Tajik AJ
Am J Cardiol 2020 Nov 15;135:168-173. Epub 2020 Aug 28 doi: 10.1016/j.amjcard.2020.08.027. PMID: 32866449
Long term follow-up of four patients with Keutel syndrome.
Khosroshahi HE, Sahin SC, Akyuz Y, Ede H
Am J Med Genet A 2014 Nov;164A(11):2849-56. Epub 2014 Aug 13 doi: 10.1002/ajmg.a.36699. PMID: 25123378
Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.
Iwasaki Y, Horigome H, Takahashi-Igari M, Kato Y, Razzaque MA, Matsuoka R
Congenit Heart Dis 2009 Jan-Feb;4(1):38-41. doi: 10.1111/j.1747-0803.2008.00243.x. PMID: 19207402
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Clinical prediction guides

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G
Circ Genom Precis Med 2023 Aug;16(4):350-358. Epub 2023 May 18 doi: 10.1161/CIRCGEN.122.003861. PMID: 37199218
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.
Galazka P, Jain R, Muthukumar L, Sanders H, Bush M, Jan MF, Jahangir A, Khandheria BK, Tajik AJ
Am J Cardiol 2020 Nov 15;135:168-173. Epub 2020 Aug 28 doi: 10.1016/j.amjcard.2020.08.027. PMID: 32866449
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D
J Med Genet 2016 Feb;53(2):123-6. Epub 2015 Sep 2 doi: 10.1136/jmedgenet-2015-103177. PMID: 26337637
LEOPARD syndrome: what are café noir spots?
Rodríguez-Bujaldón A, Vazquez-Bayo C, Jimenez-Puya R, Galan-Gutierrez M, Moreno-Gimenez J, Rodriguez-Garcia A, Tercedor J, Velez-Garcia A
Pediatr Dermatol 2008 Jul-Aug;25(4):444-8. doi: 10.1111/j.1525-1470.2008.00734.x. PMID: 18789084
Leopard syndrome.
Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S
Dermatol Online J 2008 Mar 15;14(3):7. PMID: 18627709

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