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C. Basson, Glenn Cowley, Scott Solomon, B. Weissman, A. Poznanski, T. Traill, J. Seidman, C. Seidman (1994)
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)The New England journal of medicine, 330 13
M. Holt, S. Oram (1960)
FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONSBritish Heart Journal, 22
A 51-year-old female was diagnosed with a âhole in the heartâ 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 Eisenmengerâs 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 Eisenmengerâs syndrome. fects; usually atrial or ventricular septal defects, and radial ray limb malformations.â The genetic defect for Holt-Oram syndromes resides on the long arm of chromosome 1 2 . ~
Journal of Interventional Cardiology – Wiley
Published: Apr 1, 1999
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