多发性弹力纤维瘤病综合征行早期心脏包膜切除术的重要性：病例报告
The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.
机构信息
SUNY Upstate Medical University, Syracuse, NY, USA.
出版信息
J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221077816. doi: 10.1177/23247096221077816.
Abstract
Mulibrey (scle-er-ain-e) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrictive pericarditis and diastolic dysfunction are the most common causes of mortality. We present a case of a patient with Mulibrey nanism syndrome who underwent pericardiectomy at 12 years old and was able to live 44 years more with relatively stable and asymptomatic diastolic congestive heart failure (CHF). This case highlights the importance of early recognition and treatment of constrictive pericarditis in these patients.
摘要
多发性弹力纤维瘤（骨-皮肤-眼）矮小综合征是一种极为罕见的多器官受累的遗传性疾病。缩窄性心包炎和舒张功能障碍是导致死亡的最常见原因。我们报告了 1 例多发性弹力纤维瘤矮小综合征患者，该患者于 12 岁时接受了心包切除术，此后又相对稳定无症状地生存了 44 年，患有舒张性充血性心力衰竭（CHF）。该病例强调了早期识别和治疗这些患者缩窄性心包炎的重要性。
相似文献
1
The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.
J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221077816. doi: 10.1177/23247096221077816.
2
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism.
World J Pediatr Congenit Heart Surg. 2013 Oct;4(4):442-3. doi: 10.1177/2150135113485761.
3
Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.
Can J Cardiol. 2018 May;34(5):690.e5-690.e8. doi: 10.1016/j.cjca.2018.02.008. Epub 2018 Feb 13.
4
Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.
Eur J Pediatr. 2013 Oct;172(10):1415-8. doi: 10.1007/s00431-013-1962-2. Epub 2013 Feb 6.
5
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism.
Kardiol Pol. 2016;74(2):192. doi: 10.5603/KP.2016.0021.
6
Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.
Circulation. 2003 Jun 10;107(22):2810-5. doi: 10.1161/01.CIR.0000070949.76608.E2. Epub 2003 May 19.
7
Mulibrey Nanism: A Case with Heart Failure.
Turk Kardiyol Dern Ars. 2024 Sep;52(6):464-467. doi: 10.5543/tkda.2023.95443.
8
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis.
Tanaffos. 2011;10(1):48-51.
9
[Mulibrey syndrome: anesthetic management].
Rev Esp Anestesiol Reanim. 2010 Mar;57(3):186-8. doi: 10.1016/s0034-9356(10)70196-1.
10
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.
J Tehran Heart Cent. 2016 Oct 3;11(4):187-191.
本文引用的文献
1
Mulibrey Nanism Syndrome: A Case for Heart Transplantation.
Ann Thorac Surg. 2020 Feb;109(2):e115-e117. doi: 10.1016/j.athoracsur.2019.05.021. Epub 2019 Jun 28.
2
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
Int J Mol Sci. 2018 Dec 24;20(1):67. doi: 10.3390/ijms20010067.
3
Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.
Hum Reprod. 2018 Jul 1;33(7):1254-1261. doi: 10.1093/humrep/dey103.
4
Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.
Can J Cardiol. 2018 May;34(5):690.e5-690.e8. doi: 10.1016/j.cjca.2018.02.008. Epub 2018 Feb 13.
5
New intragenic rearrangements in non-Finnish mulibrey nanism.
Am J Med Genet A. 2017 Oct;173(10):2782-2788. doi: 10.1002/ajmg.a.38381. Epub 2017 Aug 17.
6
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3.
7
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder.
J Clin Endocrinol Metab. 2011 Nov;96(11):3399-407. doi: 10.1210/jc.2011-1493. Epub 2011 Aug 24.
8
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.
Gene. 2006 Jan 17;366(1):180-8. doi: 10.1016/j.gene.2005.08.008. Epub 2005 Nov 28.
9
Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37.
Diabetes. 2005 Dec;54(12):3577-81. doi: 10.2337/diabetes.54.12.3577.
10
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233.
Zotero 插件