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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 11  |  Issue : 1  |  Page : 27-28

Patent ductus arteriosus with a rare hand anomaly


Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education University, Manipal, Karnataka, India

Date of Submission27-May-2021
Date of Decision07-Jul-2021
Date of Acceptance14-Jan-2022
Date of Web Publication21-Apr-2022

Correspondence Address:
MBBS, MD Y Ramesh Bhat
Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education University, Manipal - 576 104, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcpc.jcpc_33_21

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  Abstract 


Congenital heart defects are associated with various extracardiac malformations. Among them, association of congenital upper-limb malformations is common and frequently referred as heart–hand syndrome. Thumb malformations are most frequent among upper-limb malformations. The most common among them is Holt–Oram syndrome which consists of atrial septal defect with absent radius or thumb anomalies. Patent ductus arteriosus (PDA) with hand anomalies are quite rare. The authors present a peculiar hand deformity with PDA in a 2-month-old infant. The right hand revealed oligodactyly with syndactyly of the thumb and forefinger, the absence of carpal bones, few metacarpals, and phalangeal components.

Keywords: Infant, oligosyndactyly, patent ductus arteriosus


How to cite this article:
Bhat Y R, Arthi P. Patent ductus arteriosus with a rare hand anomaly. J Clin Prev Cardiol 2022;11:27-8

How to cite this URL:
Bhat Y R, Arthi P. Patent ductus arteriosus with a rare hand anomaly. J Clin Prev Cardiol [serial online] 2022 [cited 2022 May 22];11:27-8. Available from: https://www.jcpconline.org/text.asp?2022/11/1/27/343642




  Introduction Top


Heart–hand syndromes (HHS) refer to congenital heart defects with upper-limb malformations.[1],[2] There are several types of HHS, but the most common among them is Holt–Oram syndrome which consists of atrial septal defect with absent radius or thumb anomalies. Patent ductus arteriosus (PDA) is commonly associated with bicuspid aortic valve. In Char syndrome, PDA is associated with short or absent fifth finger and distinct facial features. The authors report PDA with peculiar hand anomaly with missing many components of hand and digits.


  Case Report Top


A 2-month-old infant who came for immunization was found to have oligodactyly and syndactyly of the thumb and forefinger on the right side [Figure 1]. The digits on other three limbs were normal. X-ray of the right hand revealed the absence of carpal bones, few metacarpals, and components of phalanx [Figure 2]. Ash leaf macule measuring 2 cm × 3 cm was present around the umbilicus. Clinical examination did not reveal any other anomaly. His weight was 4315 g (between 3rd and 15th centiles), length was 54 cm (<3rd centile), and head circumference was 37.5 cm (between mean and −2 SD). The pulse was 150/min and bounding type. The respiratory rate was 40/min. The cardiovascular system examination revealed normal apical impulse and continuous murmur at the left infraclavicular area. Per abdominal examination revealed hepatomegaly of 3 cm. Another system examination was normal. Complete blood count and serum creatinine were normal. Chest radiograph was normal. There were no vertebral anomalies. Echocardiography revealed normal cardiac segmental anomaly, moderate PDA measuring 4 mm with left-to-right flow. The peak gradient was 25 mmHg. Biventricular structure, size, and systolic function were normal. Electrocardiography was normal. Ultrasonography of the abdomen and renal scan were normal. Exome sequencing or chromosomal microarray could not be done in view of financial constraints.
Figure 1: Hand anomaly: Oligodactyly with syndactyly of the thumb and forefinger on the right side

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Figure 2: X-ray of the right hand showing the absence of carpals, few metacarpals, and phalanx of digits

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He was born to a 28-year-old woman at 37 weeks by elective cesarean section with a birth weight of 2475 g. Maternal history revealed four prior abortions between 5 and 12 weeks. The recurrent pregnancy loss (RPL) workup showed a normal anti-Mullerian hormone level. Coagulation profile was normal. Couple karyotyping done was normal. Anti-beta-2-glycoprotein IgM was positive. The mother received enoxaparin and aspirin antenatally. The baby was started on furosemide drops, and hand reconstruction was planned by a hand surgeon.


  Discussion Top


A group of rare diseases that manifest with both heart and limb deformities are called HHS.[1],[2] They are classified into at least six distinct types. Type 1 is commonly known as Holt–Oram syndrome. It is the most prevalent form of HHS. It is an autosomal dominant disorder with absent radius on both sides, atrial septal defect, and a first-degree heart block. HHS type 2 is known as Berk–Tabatznik syndrome. The syndrome includes short stature, congenital optic atrophy, brachytelephalangy, and hypoplasia of distal phalanges. HHS type 3 is described as Spanish type. The syndrome consists of cardiac conduction defects and brachydactyly. HHS, Slovenian type, is characterized by unique brachydactyly with mild hand involvement and severe foot involvement. Cardiomyopathy and sudden cardiac death may be the associated features. Brachydactyly-long thumb syndrome is known to have symmetric brachydactyly with long thumbs. There may be associated cardiac conduction defects. PDA-bicuspid aortic valve syndrome is a distinct syndrome with brachydactyly and metacarpal hypoplasia of the fifth finger.[3] It resembles Char syndrome which consists of PDA, fifth finger middle phalangeal hypoplasia, and minor facial anomalies. The present case had PDA with peculiar hand involvement on only one side. There was no facial feature.

The hand anomalies have also been classified into five categories: (I) failure of formation of parts, (II) failure of differentiation of parts, (III) duplication, (IV) overgrowth, (V) undergrowth, and (VI) congenital constriction band syndrome.[1]

In the present case, the mother underwent workup for RPL and was found to be positive for anti-beta-2-glycoprotein IgM antibodies. This could be the probable cause for RPL.[4],[5] It is, however, difficult to establish the link between hand anomalies with anti-beta-2-glycoprotein antibodies in the mother. There was no family history of hand anomalies. The present case represents the extended spectrum of HHS.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Yin Y, Ji J, Zhao J, Chen S, Tian W. Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China. BMC Musculoskelet Disord 2020;21:777.  Back to cited text no. 1
    
2.
Forsey JT, Elmasry OA, Martin RP. Patent arterial duct. Orphanet J Rare Dis 2009;4:17.  Back to cited text no. 2
    
3.
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP. Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: A novel heart-hand syndrome. Am J Med Genet 1999;87:175-9.  Back to cited text no. 3
    
4.
RCOG Guidelines. The Investigation and Treatment of Couples with Recurrent First Trimester and Second Trimester Miscarriage. RCOG Green-Top Guideline; 2011. p. 17. Available from: https://www.rcog.org.uk/globalassets/documents/guidelines/gtg_17.pdf. [Last accessed on 2021 May 23].  Back to cited text no. 4
    
5.
Sharma A, Yadav S, Yadav P. Study of antiphospholipid syndrome in patients with bad obstetric history: A cross sectional study. Int J Clin Obstet Gynaecol 2018;2:24-8. Available from: https://www.gynaecologyjournal.com/archives/2018/vol2issue2/A/2-1-23. [Last accessed on 2021 May 23].  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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