法洛四联症与肥厚型心肌病的罕见关联。2例新生儿患者报告。
The rare association of tetralogy of Fallot with hypertrophic cardiomyopathy. Report of 2 neonatal patients.
作者信息
Lewin M B, Towbin J A, Thapar M K, Dreyer W J, Feltes T F
机构信息
Lillie Frank Abercrombie Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston 77030-2399, USA.
出版信息
Tex Heart Inst J. 1997;24(3):215-7.
Abstract
Although tetralogy of Fallot is commonly associated with other congenital heart defects, it is rarely found in conjunction with hypertrophic cardiomyopathy. We describe the cases of 2 neonates with this rare condition, both of whom required surgical intervention during infancy. Because hypertrophic cardiomyopathy is frequently familial, and tetralogy of Fallot is commonly found in patients diagnosed with chromosomal anomalies, we speculate about a possible genetic cause for this association.
摘要
虽然法洛四联症通常与其他先天性心脏缺陷相关，但它很少与肥厚型心肌病同时出现。我们描述了2例患有这种罕见病症的新生儿病例，这两名患儿在婴儿期均需要手术干预。由于肥厚型心肌病常常具有家族性，且法洛四联症常见于被诊断患有染色体异常的患者中，我们推测了这种关联可能的遗传原因。
相似文献
1
The rare association of tetralogy of Fallot with hypertrophic cardiomyopathy. Report of 2 neonatal patients.
Tex Heart Inst J. 1997;24(3):215-7.
2
Tetralogy of Fallot and hypertrophic cardiomyopathy: a rare association.
Arq Bras Cardiol. 2003 Feb;80(2):217-9, 214-6. doi: 10.1590/s0066-782x2003000200010. Epub 2003 Feb 25.
3
A rare association of tetralogy of Fallot and hypertrophic cardiomyopathy.
Eur J Cardiothorac Surg. 2012 Jun;41(6):1390-2. doi: 10.1093/ejcts/ezr245. Epub 2012 Jan 4.
4
Tetralogy of Fallot, hypertrophic cardiomyopathy, and Down's syndrome: a rare and challenging combination.
Pediatr Dev Pathol. 2006 Jul-Aug;9(4):307-11. doi: 10.2350/10-05-0113.1.
5
[Hypertrophic myocardiopathy and tetralogy of Fallot. Study of 2 cases].
Ann Cardiol Angeiol (Paris). 1986 Jan;35(1):31-4.
6
[Proceedings: Tetralogy of Fallot associated with idiopathic hypertrophic subvalvular stenosis--a surgical case].
Jpn Circ J. 1975 Jul;39(7):350-1.
7
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome.
Turk J Pediatr. 2008 May-Jun;50(3):275-7.
8
Combined discrete subaortic stenosis, idiopathic hypertrophic subaortic stenosis and tetralogy of Fallot.
Nihon Geka Hokan. 1978 May 1;47(3):401-10.
9
[A rare pathological association: Fallot's tetralogy and asymmetric septal hypertrophy].
Arch Mal Coeur Vaiss. 1984 May;77(5):577-80.
10
Tetralogy of Fallot with hypertrophic cardiomyopathy.
Cardiology. 2003;100(1):50-2. doi: 10.1159/000072394.
引用本文的文献
1
Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development.
Sci Rep. 2024 Oct 30;14(1):26179. doi: 10.1038/s41598-024-77187-y.
2
Heart Failure in Tetralogy of Fallot due to Associated Hypertrophic Obstructive Cardiomyopathy: A Lesson to Learn.
J Cardiovasc Echogr. 2021 Jan-Mar;31(1):35-38. doi: 10.4103/jcecho.jcecho_93_20. Epub 2021 May 21.
3
Combined obstructive hypertrophic cardiomyopathy and double outlet right ventricle in an infant with Down syndrome.
Am J Case Rep. 2013 Nov 1;14:453-8. doi: 10.12659/AJCR.889581. eCollection 2013.
4
Unusual cardiac associations with Tetralogy of Fallot-a descriptive study.
Pediatr Cardiol. 2010 Aug;31(6):785-91. doi: 10.1007/s00246-010-9701-1. Epub 2010 Apr 20.
5
Unusual association of hypertrophic cardiomyopathy with complete atrioventricular canal defect and Down syndrome.
Tex Heart Inst J. 2000;27(3):289-91.
本文引用的文献
1
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Cell. 1994 Jun 3;77(5):701-12. doi: 10.1016/0092-8674(94)90054-x.
2
Recent advances in the molecular genetics of hypertrophic cardiomyopathy.
Circulation. 1995 Sep 1;92(5):1336-47. doi: 10.1161/01.cir.92.5.1336.
3
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Nat Genet. 1995 Dec;11(4):434-7. doi: 10.1038/ng1295-434.
4
Hypertrophic cardiomyopathy in infants: clinical features and natural history.
Circulation. 1982 Jan;65(1):7-17. doi: 10.1161/01.cir.65.1.7.
5
Congenital anomalies in the heart with hypertrophic cardiomyopathy.
Br Heart J. 1968 Sep;30(5):713-22. doi: 10.1136/hrt.30.5.713.
6
Cardiovascular anomalies associated with tetralogy of Fallot.
Am J Cardiol. 1967 Aug;20(2):206-15. doi: 10.1016/0002-9149(67)90079-3.
7
Tetralogy of Fallot with hypertrophic cardiomyopathy--an unknown combination.
Indian Heart J. 1989 Sep-Oct;41(5):344-7.
8
Tetralogy of Fallot, pulmonary valve stenosis, ventricular septal defect, and hypertrophic cardiomyopathy in WKY/NCrj rats.
Pediatr Res. 1990 May;27(5):483-7. doi: 10.1203/00006450-199005000-00013.
9
Short arm deletion of chromosome 1: del(1)(p13.3 p22.3) in a female infant with an extreme tetralogy of Fallot.
Clin Genet. 1991 Feb;39(2):132-5. doi: 10.1111/j.1399-0004.1991.tb02999.x.
10
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
Cell. 1990 Sep 7;62(5):999-1006. doi: 10.1016/0092-8674(90)90274-i.
Zotero 插件