Adult Survival in Ellis–van Creveld Syndrome with Common Atrium – A Rare Case Report
Published: August 1, 2017 | DOI: https://doi.org/10.7860/JCDR/2017/25126.10454
Mugula Sudhakar Rao, Devavrata Sahu, Hashir Kareem, Tom Devasia, Kishor Kumar Shetty
1. Registrar, Department of Cardiology, KMC, Manipal University, Manipal, Karnataka, India.
2. Junior Resident, Department of Medicine, KMC, Manipal University, Manipal, Karnataka, India.
3. Associate Professor, Department of Cardiology, KMC, Manipal University, Manipal, Karnataka, India.
4. Professor, Department of Cardiology, KMC, Manipal University, Manipal, Karnataka, India.
5. Consultant Physician, Department of Medicine, Vinaya Hospital, Kundapur, Karnataka, India.
Correspondence
Dr. Hashir Kareem,
Associate Professor, Department of Cardiology, KMC, Manipal University, Manipal-576104, Karnataka, India.
E-mail: hashirkareem@gmail.com
Ellis-van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with this syndrome rarely survive into adulthood. The syndrome has also been rarely reported in the Indian population. We present the case of a 56 year old female who presented with post-menopausal bleeding, and was diagnosed with Ellis van Creveld syndrome, with a common atrium and common atrioventricular valve.
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