Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 744-751

  Hahn, Andreas ^a   Lauriol, Jessica ^b   Thul, Josef ^c   Behnke Hall, Kachina ^c   Logeswaran, Tushiha ^c   Schänzer, Anne ^c   Böğürcü, Nuray ^c   Garvalov, Boyan K ^c   Zenker, Martin ^d   Gelb, Bruce D ^e   von Gerlach, Susanne ^c   Kandolf, Reinhard ^f   Kontaridis, Maria I ^b,g   Schranz, Dietmar ^c  

^a UNIVERSITY HOSPITAL GIESSEN   (Germany)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Hypertrophic cardiomyopathy; MTOR; Noonan syndrome with multiple lentigines; NSML; PTPN11; RASopathy

Indexed keywords

ACETYLSALICYLIC ACID; BRAIN NATRIURETIC PEPTIDE; ESOMEPRAZOLE; ETACRYNIC ACID; EVEROLIMUS; FUROSEMIDE; PHENOBARBITAL; PROPRANOLOL DERIVATIVE; PROTEIN TYROSINE PHOSPHATASE SHP 2; SPIRONOLACTONE; VERAPAMIL; IMMUNOSUPPRESSIVE AGENT; PTPN11 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; ECHOCARDIOGRAPHY; GENE; GENETIC SCREENING; HEART EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC PRESSURE; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART MURMUR; HEART RIGHT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART TRANSPLANTATION; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE HYPERTROPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LEOPARD SYNDROME; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; NOONAN SYNDROME; PRIORITY JOURNAL; PTPN11 GENE; SUPRAVENTRICULAR TACHYCARDIA; CARDIAC MUSCLE; CARDIOMYOPATHY, HYPERTROPHIC; DISEASE COURSE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; NUCLEOTIDE SEQUENCE; PALLIATIVE THERAPY; PATHOLOGY;

MUS;

BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EVEROLIMUS; GENETIC ASSOCIATION STUDIES; HEART TRANSPLANTATION; HUMANS; IMMUNOSUPPRESSIVE AGENTS; LEOPARD SYNDROME; MALE; MUTATION, MISSENSE; MYOCARDIUM; PALLIATIVE CARE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84925730495     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36982     Document Type: Article

References (19)

1. Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B. 2006. PTPN11 gene mutations: Linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". Eur J Pediatr Part A 165A:803-805.
2. Digilio MC, Lepri F, Baban A, Dentici ML, Versacci P, Capolino R, Ferese R, De Luca A, Tartaglia M, Marino B, Dallapiccola B. 2011. RASopathies: Clinical diagnosis in the first year of life. Mol Syndromol 1:282-289.
3. Faienza MF, Giordani L, Ferraris M, Bona G, Cavallo L. 2009. PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: What is the link? Pediatr Cardiol 30:1012-1015.
4. Gelb BD, Tartaglia M. 2011. RAS signalling pathway mutations and hypertrophic cardiomyopathy: Getting into and out of the thick of it. J Clin Invest Part A 121A:844-847.
5. Kampmann C, Wiethoff CM, Wenzel A, Stolz G, Betancor M, Wippermann CF, Huth RG, Habermehl P, Knuf M, Emschermann T, Stopfkuchen H. 2000. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 83:667-672.
6. Keilhack H, David FS, McGregor M, Cantley LC, Neel BG. 2005. Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. J Biol Chem Part A 280A:30984-30993.
7. Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG. 2006. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem Part A 281A:6785-6792.
8. Lauriol J, Kontaridis MI. 2011. PTPN11-associated mutations in the heart: Has LEOPARD changed Its RASpots? Trends Cardiovasc Med 21:97-104.
9. Marin TM, Keith K, Davies B, Conner DA, Guha P, Kalaitzidis D, Wu X, Lauriol J, Wang B, Bauer M, Bronson R, Franchini KG, Neel BG, Kontaridis MI. 2011. Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest Part A 121A:1026-1043.
10. Noonan JA. Hypertelorism with Turner phenotype. 1968. A new syndrome with associated congenital heart disease. Am J Dis Child Part A 116A:373-380.
11. Ross RD, Bollinger RO, Pinsky VW. 1992. Grading the severity of congestive heart failure in infants. Pediatr Cardiol 13:72-75.
12. Sarkozy A, Digilio MC, Dallapiccola B. 2008. Leopard syndrome. Orphanet J Rare Dis doi: 10.1186/1750-1172-3-13
13. Schramm C, Fine DM, Edwards MA, Reeb AN, Krenz M. 2012. The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. Am J Physiol Heart Circ Physiol Part A 302A:H231-H243.
14. Shende P, Plaisance I, Morandi C, Pellieux C, Berthonneche C, Zorzato F, Krishnan J, Lerch R, Hall MN, Rüegg MA, Pedrazzini T, Brink M. 2011. Cardiac raptor ablation impairs adaptive hypertrophy, alters metabolic gene expression, and causes heart failure in mice. Circulation Part A 123A:1073-1082.
15. Song X, Kusakari Y, Xiao CY, Kinsella SD, Rosenberg MA, Scherrer-Crosbie M, Hara K, Rosenzweig A, Matsui T. 2010. MTOR attenuates the inflammatory response in cardiomyocytes and prevents cardiac dysfunction in pathological hypertrophy. Am J Physiol Cell Physiol Part A 299A:C1256-C1266.
16. Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cavé H, Verloes A. 2007. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics Part A 119A:e1325-1331.
17. Takahashi K, Kogaki S, Kurotobi S, Nasuno S, Ohta M, Okabe H, Wada K, Sakai N, Taniike M, Ozono K. 2005. A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr Part A 164A:497-500.
18. Tartaglia M, Mehler EL, Goldberg R, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468.
19. Zenker M. 2011. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. Curr Opin Pediatr 23:443-451.