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(Circulation. 1999;99:1395-1396.)
© 1999 American Heart Association, Inc.

Images in Cardiovascular Medicine

Holt-Oram Syndrome

Carsten J. Brockhoff, MD; Henning Kober, MD; Nikos Tsilimingas, MD; Friedhelm Dapper, MD; Thomas Münzel, MD; Thomas Meinertz, MD

From the Department of Cardiology (C.J.B., H.K., T. Münzel, T. Meinertz) and the Department of Cardiac Surgery (N.T., F.D.), University Hospital Eppendorf, Hamburg, Germany.

Correspondence to Thomas Münzel, MD, Department of Cardiology, University Hospital Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. E-mail muenzel{at}uke.uni-hamburg.de

The Holt-Oram syndrome is an autosomal dominant heritable disorder characterized by skeletal upper-limb dysplasias and congenital cardiac defects.

We describe a 43-year-old woman who presented with paroxysmal tachycardia and progressive heart failure. Both ring fingers were abnormally short as a result of dysplasia of metacarpal IV (Figure 1). Auscultation revealed a loud systolic murmur at the left sternal margin and a widely split S₂. The ECG was consistent with right ventricular hypertrophy (Figure 2). The chest x-ray showed severe right atrial and right ventricular dilatation and marked bilateral central pulmonary arterial distension with small peripheral pulmonary vessels (Figure 3, left). Echocardiography showed a large secundum-type atrial septal defect with signs of severe right ventricular volume overload. At right heart catheterization, oximetry showed a large left-to-right shunt at the atrial level with a Qp/Qs ratio of 2.3. The mean pulmonary arterial pressure was 53 mm Hg, and the wedge pressure was 13 mm Hg. A pulmonary arteriolar resistance of 851 dyn · s · cm^-5 was calculated. Operative closure of the atrial septal defect was undertaken despite markedly elevated pulmonary arteriolar resistance. Three months after the procedure, the patient reported excellent clinical improvement: there was no murmur, the size of the heart and the radiological signs of pulmonary hyperperfusion had decreased significantly (Figure 3, right), pulmonary artery mean pressure was 14 mm Hg, and pulmonary arteriolar resistance had decreased to 412 dyn · s · cm^-5.

View larger version (103K): [in this window] [in a new window]   Figure 1. Patient's hands. Both ring fingers are abnormally short as a result of dysplasia of metacarpal IV.

View larger version (22K): [in this window] [in a new window]   Figure 2. ECG showing P pulmonale, right axis deviation, and qR pattern in V1 and V2, thus being compatible with right atrial and right ventricular hypertrophy.

View larger version (113K): [in this window] [in a new window]   Figure 3. Left, Chest x-ray before surgery. Right ventricle, right atrium, and central parts of pulmonary artery are massively enlarged. Right, Chest x-ray after operative closure of atrial septal defect, showing significant reduction of right atrial and right ventricular dimensions and of central pulmonary artery distension.

Footnotes

The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke's Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.

Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke's Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.

This article has been cited by other articles:

				C. T. Basson, T. Munzel, C. Brockhoff, H. Kober, N. Tsilimingas, F. Dapper, and T. Meinertz Holt-Oram Syndrome vs Heart-Hand Syndrome Response Circulation, May 9, 2000; 101 (18): e191 - e191. [Full Text] [PDF]

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Brockhoff, C. J. Articles by Meinertz, T. Search for Related Content PubMed PubMed Citation Articles by Brockhoff, C. J. Articles by Meinertz, T. Related Collections Electrophysiology CV surgery: aortic and vascular disease Arrhythmias, clinical electrophysiology, drugs