Pathologic Features of Dilated Cardiomyopathy with Localized Noncompaction in a Child with Deletion 1p36 Syndrome

被引:3
|
作者
Pearce, F. Bennett [1 ]
Litovsky, Silvio H. [2 ]
Dabal, Robert J. [3 ]
Robin, Nathaniel [4 ]
Dure, Leon J. [1 ]
George, James F. [3 ]
Kirklin, James K. [3 ]
机构
[1] Univ Alabama, Sch Med, Dept Pediat, Birmingham, AL USA
[2] Univ Alabama, Sch Med, Dept Pathol, Birmingham, AL USA
[3] Univ Alabama, Sch Med, Dept Surg, Birmingham, AL 35294 USA
[4] Univ Alabama, Sch Med, Dept Clin Genet, Birmingham, AL USA
关键词
Dilated Cardiomyopathy; Noncompaction; Deletion; 1p36; VENTRICULAR NON-COMPACTION; MONOSOMY; 1P36;
D O I
10.1111/j.1747-0803.2011.00514.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Dilated cardiomyopathy and ventricular noncompaction have been reported in association with deletion 1p36 syndrome. Previous descriptions include echocardiographic and/or gross pathologic descriptions. There are no previous reports of microscopic findings. We report a case with descriptions of echocardiographic, gross pathologic, and microscopic findings.
引用
收藏
页码:59 / 61
页数:3
相关论文
共 50 条
  • [41] OEIS Complex Associated With Chromosome 1p36 Deletion: A Case Report and Review
    El-Hattab, Ayman W.
    Skorupski, Josh C.
    Hsieh, Michael H.
    Breman, Amy M.
    Patel, Ankita
    Cheung, Sau Wai
    Craigen, William J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (02) : 504 - 511
  • [42] Del 1p36 syndrome: a newly emerging clinical entity
    Battaglia, A
    BRAIN & DEVELOPMENT, 2005, 27 (05) : 358 - 361
  • [43] Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis: clinical report of 3 new cases and review of the literature Running title: Prenatal diagnosis of 1p36 terminal deletion
    Song, Tingting
    Zheng, Jiao
    Li, Yu
    Li, Jia
    Guo, Fenfen
    Zhao, Huashu
    Zhang, Wei
    Xu, Ying
    Yang, Hong
    GINEKOLOGIA POLSKA, 2021, : 947 - 951
  • [44] 1p36 deletion results in a decrease in glycosaminoglycans which is associated with aggressiveness in neuroblastic tumors
    Tadeo, Irene
    Gamero-Sandemetrio, Esther
    Berbegall, Ana P.
    Navarro, Samuel
    Canete, Adela
    Noguera, Rosa
    HISTOLOGY AND HISTOPATHOLOGY, 2018, 33 (05) : 487 - 495
  • [45] 1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization (FISH): a case report
    Dafir, Kenza
    Bouzid, Fatima Zahra
    Mansouri, Maria
    Aboussair, Nisrine
    PAN AFRICAN MEDICAL JOURNAL, 2020, 37 : 349
  • [46] A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report
    Gao, Li
    Zhang, Junyu
    Han, Xu
    Hu, Wenjing
    Sun, Jinling
    Tan, Yuru
    Zhao, Xinrong
    Hua, Renyi
    Wang, Shan
    Zhang, Yan
    Wang, Yanlin
    Wu, Yi
    MOLECULAR CYTOGENETICS, 2020, 13 (01)
  • [47] Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
    Heilstedt, HA
    Burgess, DL
    Anderson, AE
    Chedrawi, A
    Tharp, B
    Lee, O
    Kashork, CD
    Starkey, DE
    Wu, YQ
    Noebels, JL
    Shaffer, LG
    Shapira, SK
    EPILEPSIA, 2001, 42 (09) : 1103 - 1111
  • [48] SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
    Radio, Francesca Clementina
    Pang, Kaifang
    Ciolfi, Andrea
    Levy, Michael A.
    Hernandez-Garcia, Andres
    Pedace, Lucia
    Pantaleoni, Francesca
    Liu, Zhandong
    de Boer, Elke
    Jackson, Adam
    Bruselles, Alessandro
    McConkey, Haley
    Stellacci, Emilia
    Lo Cicero, Stefania
    Motta, Marialetizia
    Carrozzo, Rosalba
    Dentici, Maria Lisa
    McWalter, Kirsty
    Desai, Megha
    Monaghan, Kristin G.
    Telegrafi, Aida
    Philippe, Christophe
    Vitobello, Antonio
    Au, Margaret
    Grand, Katheryn
    Sanchez-Lara, Pedro A.
    Baez, Joanne
    Lindstrom, Kristin
    Kulch, Peggy
    Sebastian, Jessica
    Madan-Khetarpal, Suneeta
    Roadhouse, Chelsea
    MacKenzie, Jennifer J.
    Monteleone, Berrin
    Saunders, Carol J.
    Cuevas, July K. Jean
    Cross, Laura
    Zhou, Dihong
    Hartley, Taila
    Sawyer, Sarah L.
    Monteiro, Fabiola Paoli
    Secches, Tania Vertemati
    Kok, Fernando
    Schultz-Rogers, Laura E.
    Macke, Erica L.
    Morava, Eva
    Klee, Eric W.
    Kemppainen, Jennifer
    Iascone, Maria
    Selicorni, Angelo
    AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (03) : 502 - 516
  • [49] Molecular Characterization of a Monosomy 1p36 Presenting as an Aicardi Syndrome Phenocopy
    Bursztejn, Anne-Claire
    Bronner, Myriam
    Peudenier, Sylviane
    Gregoire, Marie-Jose
    Jonveaux, Philippe
    Nemos, Christophe
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (11) : 2493 - 2500
  • [50] Monosomy 1p36 Syndrome: The First Case Report from Turkey
    Karaer, Kadri
    Karaoguz, Meral Y.
    Perçin, E. Ferda
    TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, 2011, 31 (01): : 280 - 284