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Literature DB >> 9893300

An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy.

H Tomita¹, S Fuse, K Ikeda, K Matsuda, S Chiba.

Abstract

We report a 3-month-old girl with Costello syndrome complicating fatal hypertrophic obstructive cardiomyopathy. She had typical findings of this syndrome, slight dyspnea and persistent wheezing. Doppler echocardiography revealed asymmetric septal hypertrophy and systolic anterior movement of the anterior mitral leaflet. There was grade 1 mitral regurgitation. Although once her heart failure had been controlled medically, she died suddenly following deterioration of her heart condition. Costello syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.

Entities: Disease Species

Mesh：

Year: 1998 PMID： 9893300 DOI： 10.1111/j.1442-200x.1998.tb02000.x

Source DB: PubMed Journal: Acta Paediatr Jpn ISSN： 0374-5600

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Cited

7 in total

1. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors: Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal: Prenat Diagn Date: 2009-07 Impact factor: 3.050

2. Cardiac events in Costello syndrome: One case and a review of the literature.

Authors: Kaouthar Hakim; Rafik Boussaada; Imen Hamdi; Hela Msaad
Journal: J Saudi Heart Assoc Date: 2013-11-13

3. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors: A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal: Am J Hum Genet Date: 2000-03 Impact factor: 11.025

7. Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.

Authors: Aleksander Hinek; Kathy R Braun; Kela Liu; Yanting Wang; Thomas N Wight
Journal: Am J Pathol Date: 2004-01 Impact factor: 4.307

7 in total

An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy.

1. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

2. Cardiac events in Costello syndrome: One case and a review of the literature.

3. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

4. Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy.

5. Cardiomyopathies in Noonan syndrome and the other RASopathies.

6. Costello syndrome: clinical diagnosis in the first year of life.

7. Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.