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IT FITS! (Intelligence Transfer: From Images to Solutions) The Holt‐Oram Syndrome

IT FITS! (Intelligence Transfer: From Images to Solutions) The Holt‐Oram Syndrome A 51-year-old female was diagnosed with a “hole in the heart” as a child but never had corrective surgery and afterwards rarely visited doctors. Over the years, she has done reasonably well except for occasional chest pain. At the time of admission, she reported increasing fatigue, dyspnea, and cyanosis. She had cyanosis of the lips, tongue, and extremities. There was a soft systolic murmur with a loud second heart sound, clubbing of the digits, and her thumbs resembled her other fingers (Fig. 1). Arterial blood gases were pH 7.45,pC02 33, p02 44, HC03 23.7, O2 sat 76% on room air. The hemoglobin was 18.1 gm/dL and the hematocrit was 57.7%. The electrocardiogram showed right ventncular hypertrophy. An echocardiography revealed a large, subaortic ventricular septal defect with mostly right-to-left shunting consistent with Eisenmenger’s syndrome. Due to age and multiple co-morbidity, she was not a candidate for heart-lung transplantation. The Holt-Oram syndrome is an autosomal dominant disorder that occurs in approximately 1 per 100,000 individuals. It is characterized by congenital cardiac de- Figure 1. The right and left thumbs are dysmorphic and resemble digits. There is distal cyanosis due to Eisenmenger’s syndrome. fects; usually atrial or ventricular septal defects, and radial ray limb malformations.’ The genetic defect for Holt-Oram syndromes resides on the long arm of chromosome 1 2 . ~ http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Interventional Cardiology Wiley

IT FITS! (Intelligence Transfer: From Images to Solutions) The Holt‐Oram Syndrome

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References (2)

Publisher
Wiley
Copyright
Copyright © 1999 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0896-4327
eISSN
1540-8183
DOI
10.1111/j.1540-8183.1999.tb00225.x
Publisher site
See Article on Publisher Site

Abstract

A 51-year-old female was diagnosed with a “hole in the heart” as a child but never had corrective surgery and afterwards rarely visited doctors. Over the years, she has done reasonably well except for occasional chest pain. At the time of admission, she reported increasing fatigue, dyspnea, and cyanosis. She had cyanosis of the lips, tongue, and extremities. There was a soft systolic murmur with a loud second heart sound, clubbing of the digits, and her thumbs resembled her other fingers (Fig. 1). Arterial blood gases were pH 7.45,pC02 33, p02 44, HC03 23.7, O2 sat 76% on room air. The hemoglobin was 18.1 gm/dL and the hematocrit was 57.7%. The electrocardiogram showed right ventncular hypertrophy. An echocardiography revealed a large, subaortic ventricular septal defect with mostly right-to-left shunting consistent with Eisenmenger’s syndrome. Due to age and multiple co-morbidity, she was not a candidate for heart-lung transplantation. The Holt-Oram syndrome is an autosomal dominant disorder that occurs in approximately 1 per 100,000 individuals. It is characterized by congenital cardiac de- Figure 1. The right and left thumbs are dysmorphic and resemble digits. There is distal cyanosis due to Eisenmenger’s syndrome. fects; usually atrial or ventricular septal defects, and radial ray limb malformations.’ The genetic defect for Holt-Oram syndromes resides on the long arm of chromosome 1 2 . ~

Journal

Journal of Interventional CardiologyWiley

Published: Apr 1, 1999

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