Congenital ductus arteriosus aneurysm in association with MYH11 mutation: a case report

被引:5
作者
Ardhanari, Mohanageetha [1 ]
Swaminathan, Sethuraman [1 ]
机构
[1] Univ Miami, Jackson Mem Hosp, Miller Sch Med, Div Pediat Cardiol,Dept Pediat, 1611 NW 12th Ave,North Wing Rm 109, Miami, FL 33136 USA
关键词
Ductus arteriosus aneurysm; patent ductus arteriosus; connective tissue disorder;
D O I
10.1017/S1047951119003287
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Congenital ductus arteriosus aneurysms develop in the third trimester of fetal life, possibly due to abnormal intimal cushion formation or elastin expression in the ductal wall. It is often diagnosed in infants before 2 months of age. Most have a benign course and resolve spontaneously. However, life-threatening complications have been reported. We report a case of large ductal aneurysm diagnosed incidentally in a neonate, in whom there was a novel mutation in the smooth muscle myosin protein gene-MYH11.
引用
收藏
页码:123 / 125
页数:3
相关论文
共 10 条
[1]   ANEURYSMAL DILATATION OF PATENT DUCTUS-ARTERIOSUS IN A CASE OF EHLERS-DANLOS SYNDROME [J].
CHANG, JP ;
CHANG, CH ;
SHEIH, MJ .
ANNALS OF THORACIC SURGERY, 1987, 44 (06) :656-657
[3]   Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing [J].
Dong, Weilai ;
Baldwin, Clinton ;
Choi, Jungmin ;
Milunsky, Jeff M. ;
Zhang, Junhui ;
Bilguvar, Kaya ;
Lifton, Richard P. ;
Milunsky, Aubrey .
CLINICAL GENETICS, 2019, 96 (05) :473-477
[4]   Isolated ductus arteriosus aneurysm in the fetus and infant: A multi-institutional experience [J].
Dyamenahalli, U ;
Smallhorn, JF ;
Geva, T ;
Fouron, JC ;
Cairns, P ;
Jutras, L ;
Hughes, V ;
Rabinovitch, M ;
Mason, CAE ;
Hornberger, LK .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2000, 36 (01) :262-269
[5]   Congenital ductus arteriosus aneurysm [J].
Hornberger, LK .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (02) :348-350
[6]   Isolated neonatal ductus arteriosus aneurysm [J].
Jan, SL ;
Hwang, B ;
Fu, YC ;
Chai, JW ;
Chi, CS .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (02) :342-347
[7]   Two Patients with the Heterozygous R189H Mutation in ACTA2 and Complex Congenital Heart Defects Expands the Cardiac Phenotype of Multisystemic Smooth Muscle Dysfunction Syndrome [J].
Logeswaran, Thushiha ;
Friedburg, Christoph ;
Hofmann, Karoline ;
Akintuerk, Hakan ;
Biskup, Saskia ;
Graef, Michael ;
Rad, Ali ;
Weber, Axel ;
Neubauer, Bernd A. ;
Schranz, Dietmar ;
Bouvagnet, Patrice ;
Lorenz, Birgit ;
Hahn, Andreas .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (04) :959-965
[8]  
LUND JT, 1992, PEDIATR CARDIOL, V13, P222
[9]  
MITCHELL RS, 1983, J THORAC CARDIOV SUR, V86, P400
[10]   Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus [J].
Zhu, LM ;
Vranckx, R ;
Van Kien, PK ;
Lalande, A ;
Boisset, N ;
Mathieu, F ;
Wegman, M ;
Glancy, L ;
Gasc, JM ;
Brunotte, FO ;
Bruneval, P ;
Wolf, JE ;
Michel, JB ;
Jeunemaitre, X .
NATURE GENETICS, 2006, 38 (03) :343-349