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Table of Contents
CASE REPORT
Year : 2021  |  Volume : 17  |  Issue : 2  |  Page : 54-57

Marfan’s syndrome with tetralogy of fallot in an adult female with bronchiectasis: An unacquainted manifestation


Department of Respiratory Medicine, BPS GMC College for Women, Khanpur Kalan, Sonipat, Haryana, India

Date of Submission19-Mar-2021
Date of Acceptance05-May-2021
Date of Web Publication09-Aug-2021

Correspondence Address:
Dr. Puneet Singla
Department of Respiratory Medicine, BPS GMC College for Women, Khanpur Kalan, Sonipat, Haryana.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AMJM.AMJM_9_21

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  Abstract 

Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems. A 22-year-old female patient presented with cough, blood-stained sputum, and fever for 4 months. The patient was tall and on skeletal examination, high arched palate, arm-span longer than height, positive finger thumb sign, arachnodactyly, asymmetrical chest, and skin striae were present. Family history of Marfan’s syndrome was present. Echocardiography showed large ventricular septal defect with aortic override and severe pulmonary stenosis. CECT thorax showed bronchiectasis changes. Marfan’s syndrome with cardiovascular abnormalities usually has aortic dilatation, aortic regurgitation, aortic aneurysm, mitral valve prolapse, mitral regurgitation, etc. In this case, the patient has Marfan’s syndrome with tetralogy of Fallot (TPF) and bronchiectasis. The association of TOF with Marfan’s syndrome is one of the rarest findings.

Keywords: Bronchiectasis, Marfan’s syndrome, tetralogy of Fallot


How to cite this article:
Singla P, Agrawal A, Kharb S, Singh K. Marfan’s syndrome with tetralogy of fallot in an adult female with bronchiectasis: An unacquainted manifestation. Amrita J Med 2021;17:54-7

How to cite this URL:
Singla P, Agrawal A, Kharb S, Singh K. Marfan’s syndrome with tetralogy of fallot in an adult female with bronchiectasis: An unacquainted manifestation. Amrita J Med [serial online] 2021 [cited 2021 Dec 9];17:54-7. Available from: https://www.ajmonline.org.in/text.asp?2021/17/2/54/323556




  Introduction Top


Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems.[1] Common cardiovascular abnormalities are dilatation of the aorta and mitral regurgitation.[2],[3],[4] Few cases have been reported in the literature of Marfan’s syndrome with ventricular septal defect (VSD), and these were basically severe infantile Marfan’s syndrome, which is recognized earlier in life and has more severe clinical features and poor prognosis than the classical Marfan’s syndrome. In this case, we are highlighting the rare occurrence of tetralogy of Fallot (TOF) in an adult female patient with Marfan’s syndrome and bronchiectasis.


  Case Report Top


A 22-year-old female patient presented to the Department of Respiratory Medicine with chief complaints of cough, blood-stained sputum, and fever, on and off for last 4 months. There was history of anti-tubercular drugs intake for pulmonary tuberculosis from government hospital. There was no significant past history other than tuberculosis. On physical examination, the patient was tall and moderately built. Clubbing (grade 3) and cyanosis were present. On skeletal examination, high arched palate [Figure 1]A, arm-span (70.5 in) longer than height (66 in) [Figure 1]B, positive thumb (Steinberg) sign [Figure 1]C and positive wrist (Walker–Murdoch) [Figure 1]D, arachnodactyly [Figure 1]E, flat foot [Figure 1]F, scoliosis [Figure 2], and asymmetrical chest and skin striae were present. On chest auscultation, bilateral normal vesicular breath sound with coarse crepts was present. Pan-systolic murmur was present over the tricuspid area. There was family history of Marfan’s syndrome in father.
Figure 1: Showing skeletal changes

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Figure 2: Chest X-rays and CT chest showing scoliosis

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Complete hemogram, liver function test, and kidney function test were within normal limits. Sputum for acid-fast bacilli and cartridge-based nucleic acid amplification test (CBNAAT) were negative for Mycobacterium tuberculosis. Sputum culture sensitivity sample was sterile. Bronchoalveolar lavage (BAL) for CBNAAT was negative for M. tuberculosis. On echocardiography, there was a large VSD with aortic override and severe pulmonary stenosis (with peak gradient of 71.89 mmHg) that attributed to TOF [Figure 3]. On high-resolution CT (HRCT) thorax, there were multiple thick-walled cavitatory lesions and cystic bronchiectasis changes [Figure 4] in the bilateral upper lobe and apical segment of both lower lobes. Pulmonary function tests showed very severe obstruction. Periscopy showed mild central arteries stiffness and high normal aortic stiffness.
Figure 3: Echocardiographic images showing TOF

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Figure 4: HRCT chest showing bronchiectasis changes

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  Discussion Top


Marfan’s syndrome is named after Antoine Marfan, a French pediatrician who first identified the condition in 1896 in a 5-year-old girl. Marfan’s syndrome involves mainly the cardiovascular, ocular, skeletal, and pulmonary systems. Cardiovascular abnormalities account for >90% of the premature deaths. Marfan’s syndrome with cardiovascular abnormalities usually has aortic dilatation, aortic regurgitation, aortic aneurysm, mitral valve prolapse, mitral regurgitation, arrhythmia, etc.[2],[3],[4] Most dreaded complication is acute aortic root dissection and also most common cause of death. Manifestations usually occur in adulthood. In severe form of Marfan’s syndrome, also known as infantile Marfan’s syndrome, cardiac failure occurs in two to three months of life due to severe cardiac anomalies, especially large septal defects. Large VSDs usually have very poor prognosis and have rare occurrence in Marfan’s syndrome patients. VSDs due to severity manifest in early infancy and, if untreatable, lead to mortality of infants. So large VSD is not seen in adults usually.

In this case, the patient has Marfan’s syndrome with TOF (overriding aorta, large VSD, right ventricular hypertrophy, pulmonary valve stenosis). Marfan’s syndrome was diagnosed in this case by revised Ghent’s criteria as she was having family history of Marfan’s syndrome with several systemic manifestations.

Previous studies have reported spontaneous pneumothorax (unilateral and bilateral), congenital lobar abnormalities, bullae, bronchiectasis, cystic disease and changes, honeycombing, apical fibrosis, and emphysema.[5],[6],[7],[8] Another atypical finding in this case is bronchiectasis as this association is not described in the literature frequently. First case of Marfan’s syndrome with bronchiectasis was described by Katz (1952) in a 24-year-old male; he had bilateral cystic bronchiectasis. Katz postulated that bronchiectasis in this case was due to either intrinsic defects due to Marfan’s syndrome or recurrent chest infections due to external deformities. Thoe in 1977 also reported a case of spontaneous pneumothorax with cystic bronchiectasis as a rare occurrence in Marfan’s syndrome patients. So cystic bronchiectasis in our case may also be due to either intrinsic deformity in lung parenchyma due to Marfan’s syndrome or recurrent chest infection contributory to cyanotic heart defect and chest asymmetry. The patient was managed with inhaled bronchodilators, mucolytics, and chest physiotherapy and referred to a cardiovascular thoracic surgeon for surgical management of TOF.


  Conclusion Top


Marfan’s syndrome is a disorder with varied manifestations and genetics. Association of TOF with Marfan’s syndrome is one of the rarest findings.

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.
Pyeritz RE The Marfan syndrome. Annu Rev Med 2000;51:481-510.  Back to cited text no. 1
    
2.
Cattaneo SM II, Meisenberg BR, Geronimo MCM, Bhandari B, Maxted JW, Brady-Copertino CJ Lung cancer screening in the community setting. Ann Thorac Surg 2018;105:1627-32.  Back to cited text no. 2
    
3.
Hirata K, Triposkiadis F, Sparks E, Bowen J, Boudoulas H, Wooley CF. The Marfan syndrome: Cardiovascular physical findings and diagnostic correlates. Am Heart J1992;123:743-52.  Back to cited text no. 3
    
4.
Pyeritz RE, Wappel MA Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med 1983;74:797-807.  Back to cited text no. 4
    
5.
Tanoue LT Pulmonary involvement in collagen vascular disease: A review of the pulmonary manifestation of the Marfan’s syndrome, ankylosing spondylitis, Sojorens syndrome, and relapsing polychondritis. J Thoracic Imaging 1992;7:62-77.  Back to cited text no. 5
    
6.
Sharma BK, Talukdar B, Kapoor R Cystic lung in Marfan’s syndrome. Thorax 1989;44:978-9.  Back to cited text no. 6
    
7.
Sayers CP, Goltz RW, Mottiaz J Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan’s syndrome: A light and electron microscopic study. J Invest Dermatol 1975;65:451-7.  Back to cited text no. 7
    
8.
Turner JA, Stanley NN Fragile lung in the Marfan syndrome. Thorax 1976;31:771-5.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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