Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report
Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of...
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| Format: | Book |
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KARE Publishing,
2014-12-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_ddde9568d1784255bcb51dc0ab5f3412 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Osman Güvenç |e author |
| 700 | 1 | 0 | |a Fatma Sevinç Şengül |e author |
| 700 | 1 | 0 | |a Murat Saygı |e author |
| 700 | 1 | 0 | |a Yakup Ergül |e author |
| 700 | 1 | 0 | |a Alper Güzeltaş |e author |
| 245 | 0 | 0 | |a Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report |
| 260 | |b KARE Publishing, |c 2014-12-01T00:00:00Z. | ||
| 500 | |a 1016-5169 | ||
| 500 | |a 10.5543/tkda.2014.55506 | ||
| 520 | |a Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of patients, and is a determinant for the prognosis of Costello syndrome. The most common cardiac anomalies are pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect and arrhytmia. In this report, we present a 14-month-old female pediatric patient with hypertrophic cardiomyopathy, clinically and genetically diagnosed with Costello syndrome. The report also contains a review of recent related literature. | ||
| 546 | |a EN | ||
| 546 | |a TR | ||
| 690 | |a costello syndrome | ||
| 690 | |a child | ||
| 690 | |a hypertrophic cardiomyopathy. | ||
| 690 | |a Medicine | ||
| 690 | |a R | ||
| 690 | |a Internal medicine | ||
| 690 | |a RC31-1245 | ||
| 690 | |a Diseases of the circulatory (Cardiovascular) system | ||
| 690 | |a RC666-701 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Türk Kardiyoloji Derneği Arşivi, Vol 42, Iss 8, Pp 767-770 (2014) | |
| 787 | 0 | |n https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-55506 | |
| 787 | 0 | |n https://doaj.org/toc/1016-5169 | |
| 856 | 4 | 1 | |u https://doaj.org/article/ddde9568d1784255bcb51dc0ab5f3412 |z Connect to this object online. |