ISSN 1016-5169 | E-ISSN 1308-4488
Archives of the Turkish Society of Cardiology
Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. 2016; 44(6): 503-506 | DOI: 10.5543/tkda.2015.29677

Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case

Osman Güvenç1, Saime Sündüs Uygun2, Derya Çimen1, Eyüp Aslan1, Ali Annagür2
1Selçuk Univercity Faculty Of Medicine, Department Of Pediatric Cardiology, Konya
2Selçuk Univercity Faculty Of Medicine, Department Of Neonatology, Konya

Summary– 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.

Keywords: Asphyxiating thoracic dysplasia, cardiac abnormality, hypertrophic cardiomyopathy, Jeune syndrome; newborn.

How to cite this article
Osman Güvenç, Saime Sündüs Uygun, Derya Çimen, Eyüp Aslan, Ali Annagür. Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case. Turk Kardiyol Dern Ars. 2016; 44(6): 503-506

Corresponding Author: Osman Güvenç, Türkiye
Manuscript Language: English


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