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| CASE REPORT |
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| Year : 2013 | Volume
: 10
| Issue : 2 | Page : 81-84 |
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Heart-hand syndrome in an African child
Aliyu Ibrahim
Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
| Date of Web Publication | 13-Feb-2014 |
Correspondence Address:
Aliyu Ibrahim
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano + 234
Nigeria
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0189-7969.127006
Heart-hand syndrome is a heterogeneous group of congenital malformation characterized by congenital heart defects and limb malformations. The upper and/or the lower limbs may be affected in the same individual, however the severity often differs even in the same kindred. The commonest form is the Holt-Oram syndrome in which the carpal bones are usually affected; but the case of a 3-year-old boy who had umbilical hernia, ventricular septal defect and pulmonary arterial hypertension with a preaxial polydactyly as the only upper limb defect is reported. Keywords: Heart-hand syndrome, holt-oram syndrome, preaxial polydactyly, pulmonary arterial hypertension
How to cite this article:
Ibrahim A. Heart-hand syndrome in an African child. Nig J Cardiol 2013;10:81-4 |
| Introduction | |  |
The heart-hand syndrome is a heterogeneous group of congenital malformation which occurs worldwide characterized by congenital malformation of the heart and the hand. The spectrum of involvement varies from individuals and they are broadly classified as heart-hand syndrome types I-III. [1],[2] Type I also known as Holt-Oram syndrome was described in 1960 by Holt and Oram and is the commonest, followed by type II which is also called Tabatznik syndrome which was documented in 1978 by Temtamy and McKusick from the report of a family studied by Tabatznik. [3] Congenital cardiac defects are seen in about 75% of cases of patients with type I heart-hand syndrome (Holt-Oram); most common defects are atrial septal defect especially the secundum type, ventricular septal defects, and conduction defects manifesting as bradyarrhythmia, tachyarrhythmia, heart blocks, and atrial fibrillation. [4] The limb defects may involve the upper and/or the lower limbs. [5] Common limb defects in type I heart-hand syndrome may include abnormalities of the thumb such as an absent, hypoplastic, or a triphalangeal thumb which may be unilateral or bilateral, but the carpal and metacarpal bones are mostly involved in which they may be hypoplastic or fused; but as a rule, it should be a preaxial radial ray anomaly. Tabatznik's syndrome is characterized by upper limb abnormalities like hypoplastic deltoids; skeletal defects in the humeri, radii, ulnae, and thenar bones; and type D brachydactyly with arrhythmias like, junctional rhythms and atrial fibrillation. The heart-hand syndrome type III is characterized by cardiac conduction defects like intraventricular conduction delays and sick sinus syndrome; however septal defects have not been associated with it. The skeletal defects in type III are milder compared to type II and involves the hands and feet which are mainly brachydactyly type C. [6],[7] However, a 3-year-old boy who had an inlet ventricular septal defect and whose limb abnormality was only a preaxial polydactyly with the extra digit attached to the left thumb and an associated umbilical hernia, but who later developed pulmonary hypertension is reported.
| Case Report | | |
A 3-year-old boy whose complaint started from the 4 th month of life with an initial complaint of difficulty in breathing and there was no history suggestive of cyanosis. He had series of investigations and was at a point treated for tuberculosis in a general hospital; he was born into a monogamous nonconsanguineous family setting of five children and there was no family history of similarly illness. On examination, there was a preaxial polydactyly with extra digit attached to the left thumb. He was tachycardic with pulse rate of 160/min, the blood pressure was 90/60 mmHg (sitting right arm), the jugular venous pressure was 9 cmH 2 O, and there was precordial bulge with displaced apex-beat at the 6 th left intercostal space at the anterior axillary line. He had first and second heart sound, loud P 2 , pansystolic murmur at the left sternal margin, and a diastolic murmur at the second left intercostal space. He also had an umbilical hernia measuring 5 × 5 cm which was reducible [Figure 1].
Chest X-ray showed cardiomegaly with prominence of the pulmonary trunk [Figure 2]; electrocardiogram (ECG) showed right ventricular hypertrophy [Figure 3]; while the packed cell volume was 39%. He also had echocardiography at the age of 1-year using an ALOKA prosound 4000 ultrasound system, with facilities for M-mode, 2D, color flow mapping and Doppler studies. All the measurements were done using 7.5 MHz sector transducer which showed an inlet ventricular septal defect. He has been on frusemide and spiranolactone. However since the age of 3 years, the difficulty in breathing subsided though he did not develop central cyanosis or digital clubbing and the oxygen saturation in room air was 92%. A repeat echocardiography showed prominent pulmonary trunk [Figure 4], the pulmonary valve was regurgitant [Figure 5] with severe tricuspid regurgitation [Figure 6] with tricuspid valve regurgitant jet of 3.5 m/s and estimated pulmonary arterial systolic pressure of 55 mmHg; it also showed the ventricular septal defect [Figure 7]. He had skeletal X-ray of both upper limbs [Figure 8] which revealed the bony attachment of the extra digit to the base of the proximal phalanx of the left thumb; the lower limb findings were not remarkable. All first degree relatives were also evaluated (chest X-ray, ECG, and limb X-rays) but no abnormality was detected. Though cardiac catheterization and DNA analysis for TBX 5 mutations were not done due to nonavailability of such expertise, the diagnosis of heart-hand syndrome type I (Holt-Oram syndrome) was made with umbilical hernia and pulmonary hypertension. This patient is being mobilized for corrective surgery. | Figure 2: Chest X‑ray showing cardiomegaly with prominent left cardiac border
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 | Figure 8: X‑ray of the hands showing the bony attachment of the extra digit to the proximal phalanx of the left thumb
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| Discussion | | |
Holt-Oram syndrome is characterized by congenital cardiac defects and malformation of the upper limbs. This is often due to a mutation in the TBX5 gene on chromosome 12q24.1 which regulates cardiac and limb morphogenesis; it occurs in 1:100,000 individuals among Americans, [8],[9] but its incidences among Africans is not known. Though autosomal dominant, about 85% of cases may be due to sporadic mutation, [8] as was observed in this case because no other family member had similar defects. However, the severity of involvement may differ among individuals of even same kindred, abnormality of the carpal bones is usually present; but this case had only a preaxial polydactyly on the left thumb while the carpal and metacarpal bones were normal on both limbs. Such variability may make a diagnosis based on clinical assessment alone quite difficult without recourse to DNA analysis, which will be a big challenge in a resource limited setting like Africa. As earlier reported by Basson, [7] making a precise diagnosis is the goal in order to ensure appropriate and informed evaluation of other family members, which will also ensure correct documentation of the prevalence of the disease, but in our setting where DNA analysis is hard to come by, involvement of the heart and any preaxial radial ray defect should suffice to make the clinical diagnosis. Furthermore, our case had an umbilical hernia which to the best of the author's knowledge had not been associated with Holt-Oram syndrome.
Development of reversal of shunt in a patient with a ventricular septal defect often occurs late in the course of their disease. However, patient with comorbidity such as Down's syndrome have increased risk for developing pulmonary arterial hypertension earlier in life due to several reasons such as: Presence of congenital heart disease with left-to-right shunts increasing the pulmonary hydrostatic pressure; presence of chronic upper airway obstruction resulting in hypoxia, pulmonary vasoconstriction and pulmonary hypertension; presence of abnormal pulmonary vasculature growth; alveolar hypoventilation; and recurrent pulmonary infection. [10] However, whether of any of the heart-hand syndromes predisposes to early development of pulmonary arterial hypertension is not clear.
| Conclusion | | |
Congenital malformation involving the heart and hand characterizes the heart-hand syndrome. The clinical spectrum is variable with varied severity, while this case had only a preaxial polydactyly of the right thumb, most patients with Holt-Oram syndrome have involvement of the carpal/and or metacarpal bones. Therefore, presence of a preaxial radial ray defect should suffice in making the diagnosis, furthermore this case also had an umbilical hernia with early development of pulmonary hypertension.
| References | | |
| 1. | Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330:885-91. 
[PUBMED] |
| 2. | Ruiz de la Fuente S, Prieto F. Heart-hand syndrome III: A new syndrome in three generations. Hum Genet 1980;55:43-7.
[PUBMED] |
| 3. | Silengo MC, Biagioli M, Guala A, Lopez-Bell G, Lala R. Heart-hand syndrome II: A report of Tabatznik syndrome with new findings. Clin Genet 1990;38:105-13.
[PUBMED] |
| 4. | Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, et al. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 2008;102:1433-42.
[PUBMED] |
| 5. | Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, et al. Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A 2008;146A:1185-9.
[PUBMED] |
| 6. | Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, et al. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet 1994;6:405-8.
[PUBMED] |
| 7. | Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, Prieto F, et al. Genetic heterogeneity of heart-hand syndromes. Circulation 1995;91:1326-9.
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| 8. | Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet 1994;6:401-4.
[PUBMED] |
| 9. | Basson CT. Holt Oram syndrome. Available from: www.emedicine.com [Last accessed on 2013 Feb 22].
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| 10. | Banjar HH. Causes of pulmonary arterial hypertension in Down′s Syndrome. Bahrain Med Bull 2009;31:3.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
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