Cardiology Research, ISSN 1923-2829 print, 1923-2837 online, Open Access
Article copyright, the authors; Journal compilation copyright, Cardiol Res and Elmer Press Inc
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Case Report

Volume 9, Number 5, October 2018, pages 324-329

Holt-Oram Syndrome With Multiple Cardiac Abnormalities

Figures

Figure 1.
Figure 1. Right hand: surgical scar of the thumb.
Figure 2.
Figure 2. 12-lead ECG: sinus rhythm of 85 bpm, AQRS +60°, LV hypertrophy and P pulmonale.
Figure 3.
Figure 3. TTE (parasternal short axis view): ASD with left to right shunt.
Figure 4.
Figure 4. TTE (parasternal short axis view): trabeculations of the LV lateral wall with a non-compacted endocardial layer and a thin compacted layer.
Figure 5.
Figure 5. TEE (short axis view): bicuspid aortic valve.
Figure 6.
Figure 6. TEE (bicaval view): negative contrast effect showing the left to right shunt in ASD.
Figure 7.
Figure 7. Posteroanterior hand radiograph: the index case, an 18 years and 5 months boy, with a bone age corresponding to 16 years.

Table

Table 1. Clinical Characteristics in HOS [1, 13]
 
Main clinical characteristicsDefectsObservations
Upper-limb malformationCarpal bones malformations100%
Triphalangeal or absent thumb(s)
Preaxial polydactyly (duplication of the thumb)
Aplasia/hypoplasia of the radius
Abnormal forearm pronation and supination
Abnormal opposition of the thumb
Sloping shoulders/restriction of shoulder joint movement
Congenital heart defectASD75% ASD: the most common
VSD
Pulmonary atresia/stenosis
Double outlet right ventricle
Aortic valve insufficiency
Aortic valve stenosis
Tricuspid atresia
Mitral valve abnormality
Patent ductus arteriosus
Pentalogy of Fallot
Tetralogy of Fallot
Common arterial truncus
Dextrocardia
Right aortic arch
Cardiac conduction diseaseSinus bradycardia
Atrioventricular (AV) block
Atrial fibrillation