Left ventricular noncompaction in Sotos syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1115-1118

  Martinez, Hugo R ^a   Belmont, John W ^b   Craigen, William J ^b   Taylor, Michael D ^a   Jefferies, John L ^a,c,d  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ST LUKE S EPISCOPAL HOSPITAL   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Hypertrabeculations; Left ventricular noncompaction cardiomyopathy; NSD1 gene mutation; Overgrowth syndrome; Sotos syndrome

Indexed keywords

ENALAPRIL;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HEART LEFT VENTRICLE HYPERTROPHY; HEPATOMEGALY; HUMAN; HYDROCEPHALUS; HYPERTELORISM; IMAGE ANALYSIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR RECEPTOR BINDING SET DOMAIN PROTEIN 1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOTOS SYNDROME; TALL STATURE; VENTRICULAR NONCOMPACTION;

ABNORMALITIES, MULTIPLE; CHILD; GENES, DOMINANT; GROWTH DISORDERS; HEART VENTRICLES; HUMANS; MALE; MUTATION; SYNDROME;

EID: 79955032183     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33838     Document Type: Article

References (18)

1. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. 2005. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet Part A 134A: 247-253.
2. Cole TR, Hughes HE. 1990. Sotos syndrome. J Med Genet 27: 571-576.
3. Eidem BW. 2009. Noninvasive evaluation of left ventricular noncompaction: What's new in 2009? Pediatr Cardiol 30: 682-689.
4. Finsterer J. 2009. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30: 659-681.
5. Ichida F. 2009. Left ventricular noncompaction. Circ J 73: 19-26.
6. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. 2001. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy. Heart 86: 666-671.
7. Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T. 1987. Congenital heart defects in Sotos sequence. Am J Med Genet 26: 569-576.
8. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. 2002. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30: 365-366.
9. Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. 2009. A clinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol 40: 357-364.
10. Maron BJ. 2008. The 2006 American Heart Association classification of cardiomyopathies is the gold standard. Circ Heart Fail 1: 72-75; discussion 76.
11. Miyamoto T, Kitahori K, Miyaji K, Nagata N, Yasui S. 2003. Total cavopulmonary connection in a bedridden patient with Sotos syndrome. Asian Cardiovasc Thorac Ann 11: 342-343.
12. Noreau DR, Al-Ata J, Jutras L, Teebi AS. 1998. Congenital heart defects in Sotos syndrome. Am J Med Genet 79: 327-328.
13. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG, National Australian Childhood Cardiomyopathy Study. 2003. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 348: 1639-1646.
14. Sharma PP, Vidaillet H, Dietz J. 2003. Patient with Sotos syndrome, Wolff-Parkinson-White pattern on electrocardiogram, and two right-sided accessory bypass tracts. Am J Med Genet Part A 116A: 372-375.
15. Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. 1964. Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 271: 109-116.
16. Tatton-Brown K, Rahman N. 2004. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol 13: 199-204.
17. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N. 2005. Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77: 193-204.
18. Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O. 2009. Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema. Eur J Med Genet 52: 306-310.