Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
TURKISH SOC CARDIOLOGY
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM.
Açıklama
Anahtar Kelimeler
Asphyxiating thoracic dysplasia, cardiac abnormality, hypertrophic cardiomyopathy, Jeune syndrome, newborn
Kaynak
TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY
WoS Q Değeri
N/A
Scopus Q Değeri
Q4
Cilt
44
Sayı
6
