患有三联征和扩张型心肌病患者的心脏骤停。
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy.
机构信息
Cardiology, Salisbury Hospital NHS Foundation Trust, Salisbury, Wiltshire, UK
Cardiology, Salisbury Hospital NHS Foundation Trust, Salisbury, Wiltshire, UK.
出版信息
BMJ Case Rep. 2021 Feb 4;14(2):e237604. doi: 10.1136/bcr-2020-237604.
Abstract
A 44-year-old woman with known trichorhinophalangeal syndrome presented with an unheralded out of hospital cardiac arrest. Transthoracic echocardiography showed severe left ventricular systolic dysfunction with an ejection fraction <25% and cardiac MRI confirmed a diagnosis of congenital non-ischaemic dilated cardiomyopathy. The case highlights a very rare syndrome, it is previously unknown association with dilated cardiomyopathy and the possible benefit of cardiac screening for patients with known trichorhinophalangeal syndrome.
摘要
一位 44 岁患有已知的三联征的女性患者在院外发生了无明显诱因的心脏骤停。经胸超声心动图显示严重的左心室收缩功能障碍，射血分数<25%，心脏 MRI 证实了先天性非缺血性扩张型心肌病的诊断。该病例突出了一种非常罕见的综合征，以前未知的与扩张型心肌病的关联，以及对已知三联征患者进行心脏筛查的可能益处。
相似文献
1
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy.
BMJ Case Rep. 2021 Feb 4;14(2):e237604. doi: 10.1136/bcr-2020-237604.
2
A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.
Eur J Dermatol. 2018 Feb 1;28(1):107-108. doi: 10.1684/ejd.2018.3253.
3
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.
Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12.
4
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.
Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19.
5
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.
BMJ Case Rep. 2015 Jan 27;2015:bcr2014207645. doi: 10.1136/bcr-2014-207645.
6
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.
Eur J Med Genet. 2011 Jul-Aug;54(4):e405-8. doi: 10.1016/j.ejmg.2011.04.001. Epub 2011 Apr 15.
7
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features.
Indian J Dermatol Venereol Leprol. 2014 Jan-Feb;80(1):54-7. doi: 10.4103/0378-6323.125515.
8
Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.
J Pediatr Orthop. 2015 Jan;35(1):e1-5. doi: 10.1097/BPO.0000000000000330.
9
Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1.
Pediatr Dermatol. 2024 Mar-Apr;41(2):366-368. doi: 10.1111/pde.15509. Epub 2024 Jan 9.
10
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248.
本文引用的文献
1
A Clinical Perspective on Sudden Cardiac Death.
Arrhythm Electrophysiol Rev. 2016;5(3):177-182. doi: 10.15420/aer.2016:11:2.
2
National initiatives to improve outcomes from out-of-hospital cardiac arrest in England.
Emerg Med J. 2016 Jul;33(7):448-51. doi: 10.1136/emermed-2015-204847. Epub 2015 Sep 23.
3
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.
4
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
Ren Fail. 2014 May;36(4):619-22. doi: 10.3109/0886022X.2014.882237. Epub 2014 Feb 6.
5
Incidence, causes, and survival trends from cardiovascular-related sudden cardiac arrest in children and young adults 0 to 35 years of age: a 30-year review.
Circulation. 2012 Sep 11;126(11):1363-72. doi: 10.1161/CIRCULATIONAHA.111.076810. Epub 2012 Aug 10.
6
Prognostic impact of familial screening in dilated cardiomyopathy.
Eur J Heart Fail. 2010 Sep;12(9):922-7. doi: 10.1093/eurjhf/hfq093. Epub 2010 Jun 4.
7
Natural history of dilated cardiomyopathy: from asymptomatic left ventricular dysfunction to heart failure--a subgroup analysis from the Trieste Cardiomyopathy Registry.
J Cardiovasc Med (Hagerstown). 2009 Sep;10(9):699-705. doi: 10.2459/JCM.0b013e32832bba35.
8
A patient with tricho-rhino-phalangeal syndrome and mitral valve disease.
Int J Cardiol. 2007 Jan 18;114(3):e129-30. doi: 10.1016/j.ijcard.2006.08.011. Epub 2006 Nov 3.
9
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7.
10
The tricho-rhino-phalangeal syndrome.
J Med Genet. 1974 Sep;11(3):312-4. doi: 10.1136/jmg.11.3.312.
Zotero 插件