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Table of Contents
CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 2  |  Page : 52-54

Successful pulmonary artery balloon angioplasty in a rare case of arterial tortuosity syndrome


1 Cardiovascular Research Center, Institute of Basic and Clinical Physiology Science, University of Medical Science, Kerman, Iran
2 Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran

Date of Submission17-May-2020
Date of Decision05-Jun-2020
Date of Acceptance15-Jun-2020
Date of Web Publication27-Jul-2020

Correspondence Address:
Dr. Zahra Khajali
Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Tehran
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/rcm.rcm_16_20

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  Abstract 


Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disease which results from mutations of the SLC2A10 gene. In this article, we describe the results of vascular imaging of an adult patient with ATS who was presented with pulmonary hypertension and after a complete evaluation, he was a candidate for interventional balloon angioplasty. Our patient is one of the very limited numbers of list patients in the studies for whom percutaneous balloon angioplasty performed successfully.

Keywords: Arterial tortuosity syndrome, pulmonary artery balloon angioplasty, peripheral pulmonary stenosis


How to cite this article:
Aliramezany M, Firouzi A, Parsaee M, Khajali Z. Successful pulmonary artery balloon angioplasty in a rare case of arterial tortuosity syndrome. Res Cardiovasc Med 2020;9:52-4

How to cite this URL:
Aliramezany M, Firouzi A, Parsaee M, Khajali Z. Successful pulmonary artery balloon angioplasty in a rare case of arterial tortuosity syndrome. Res Cardiovasc Med [serial online] 2020 [cited 2020 Dec 4];9:52-4. Available from: https://www.rcvmonline.com/text.asp?2020/9/2/52/290866




  Introduction Top


Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disease which results from mutations of the SLC2A10 gene. Although about 100 cases of this syndrome have been reported,[1] its prevalence is not clear. The precise nature of ATS is not identified,[2] it is commonly manifested with the involvement of major arteries due to tortuosity and elongation, pulmonary artery (PA) stenosis, pulmonary hypertension, and damages to other organs such as skin and joints.[3]

In this article, we describe the results of vascular imaging of an adult patient with ATS who was presented with pulmonary hypertension, and after a complete evaluation, he was a candidate for interventional balloon angioplasty.


  Case Report Top


Our patient is a 37-year-old-male with a history of progressive dyspnea for the past 6 years, who referred to our clinic for the evaluation of idiopathic pulmonary arterial hypertension (PAH). Patient's history revealed surgery for keratoconus and inguinal hernia. Furthermore, he reported a family history of surgery for keratoconus and uterine prolapse in his sister. Physical examination revealed normal peripheral pulses and blood pressure in all extremities, with oxygen saturation of nearly 89%. He had soft and hyperelastic skin. He was also noticed to have atypical facial features consisting of the down slanting palpebral fissures, beaked nose, and prominent upper lips. A third-degree systolic ejection murmur and fixed split and loud second heart sound were heard on the right and left second intercostal spaces. Chest radiography revealed that there was no cardiomegaly, but bilaterally increased broncho vascularity, prominent pulmonary conus, and mild dilatation of the left PAwere noted. Electrocardiography revealed indeterminate axis and the sign of right ventricular (RV) hypertrophy (RVH). Echocardiographic examination [Figure 1].
Figure 1: Transesophageal echocardiography showed severe stenosis and turbulent flow at the distal part of the right pulmonary artery

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Showed normal left ventricular size with mild systolic dysfunction, moderate–to-severe RV enlargement (4.7 cm) with moderate dysfunction and severe RVH. No valvular and subvalvular pulmonary stenosis (PS), moderate pulmonary insufficiency, moderate tricuspid regurgitation (TR) (tricuspid regurgitation gradient (TRG): 135 mm), severe narrowing of the distal part of the right pulmonary artery (RPA) (Peak of pressure gradient (PG): 100 mm), dilated proximal part of the coronary arteries, and large size patent foramen ovale (6 mm) with the bidirectional shunt. To better evaluate, we performed computed tomography (CT)-angiography, which showed multiple segments of sequential stenosis and dilatation in the distal parts of both pulmonary arteries [Figure 2].
Figure 2: Computed tomography angiography showed multiple segments of sequential stenosis and dilatation in the distal parts of both pulmonary arteries

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With regard to symptoms, results of echocardiography and CT-angiography, cardiac catheterization was done which demonstrated severe tortuosity and elongation of the aorta with acute bending in distal part [Figure 3]a without gradient and aneurysmal dilation of the proximal part of left anterior descending and the right coronary artery [Figure 3]b. Severe PAH (pulmonary artery pressure [PAP]: 120 mmHg) was detected at the level of main PA and we do not measure pulmonary capillary wedge pressure because of stenosis, but left ventricular end-diastolic pressure (LVEDP) was normal with pulmonary vascular resistance: 21 wood/unit that calculating by measuring of the mean of PAP, LVEDP, pulmonary venous, and PA saturation. With regard to his symptoms that mentioned and considering that one of the manifestations of the ATS is peripheral PS, we suspected to ATS and genetic analysis was performed. Direct sequencing of a region of the SLC2A10 gene showed a homozygous variant with uncertain significant allele at position c.1A>T due to lost initiating Methionine. We followed the patient and candidate him for interventional catheterization. We did not have cutting balloons, and the stenosis was not amenable for stenting because of the small caliber, and for this reason, we performed balloon angioplasty for him. Successful POBA on upper and middle RPA branches was performed with Aviator 5.5 × 20, EverCross 6 × 30, EverCross 8 × 30, EverCross 9 × 20, and PowerFlex 9 × 30 with good final results in the first session without a change in systemic blood pressure after balloon angioplasty[Figure 3]c. We repeated the intervention in two more sessions 2 months and 4 months later on the remaining stenosis of the right and left pulmonary arteries, and finally, the patient's PA pressure decreased from 120 mmHg to 60 mmHg and SO2 increased to 91%.
Figure 3: (a) Aortography showed severe tortuosity and elongation of the aorta. (b) Single coronary artery showed aneurysmal dilation of the proximal part of the left anterior descending and right coronary artery. (c) The pulmonary angiogram showed multiple peripheral stenosis

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We inflated balloon for 20 s and repeated this inflation to decrease in stenosis severity of that segment after injection. [Figure 4]a-c showed stenosis before, during, and after balloon angioplasty.
Figure 4: (a) Severe peripheral stenosis at one of the pulmonary branches of the right pulmonary artery. (b) Balloon inflated in the stenotic area. (c) The right pulmonary artery injection after balloon angioplasty

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  Discussion Top


ATS is a rare connective tissue disorder which is presented with tortuosity, elongation, and stenosis, in large- and medium-sized arteries.[1] Mutations in the SLC2A10 gene may produce a defect in the collagen structure, extracellular matrix, and internal elastic lamina of vessel walls, which in turn lead to twisting and lengthening of the arteries.[4]

In this syndrome, we see very different clinical manifestation such as vascular and nonvascular connective tissue allied symptoms such as hyperextensible skin, laxity, and hypermobility of the joint, arachnodactyly, hernia, skeletal deformities, stenosis of pulmonary branches, and pulmonary hypertension [3],[5],[6] which strongly depend on the type of mutations and according to the literature, most common presentation in all children is the tortuous artery, but the clinical prognosis of patients seems related to the degree of stenosis in arterial branches.[2]

Since, some connective tissue disorders, including  Ehlers-Danlos syndrome More Details, wrinkly skin syndrome, xeroderma osteodysplastica, Marfan syndrome, cutis laxa, and Menkes disease can mimic common feature of ATS, including musculoskeletal deformities, hernia, and cardiovascular involvement, complete evaluation of these patients is necessary. Severe vascular involvement, aneurysms, or stenosis of the mid- and large-sized vessels are infrequent, and when they are detected, ATS should be considered. Clinical assessment and different para clinical studies such as ultrastructural investigation of the skin, genes analysis, study of the collagens produced in cultured fibroblasts, and quantification of copper and ceruloplasmin level in the plasma may help distinguishing among the different forms of disorders.[2]

The first case of ATS was reported in 1967 by Ertugrul and then Callewaert et al. described 16 cases of this disease in the 12 families that presentation of two cases were with stroke. However, until now, the strict nature of this syndrome is unidentified.[3],[4]

In a genetic study, including 11 ATS patients, Coucke et al. 15 reported results of a genetic study of11 ATS patients and showed the mapping of the ATS gene to a small region on chromosome 20q13 that regulates anomalies of the elastin system in the major arteries.

Current genetic analysis of ATS has showed a genetic mutation in SLC2A10 (chromosome 20q13), that encoding glucose transporter GLUT-10, may lead to the upregulation of transforming growth factor (TGF-). Moreover, in two closely linked syndromes, Loeys–Dietz syndrome and Marfan syndrome, have also show dysregulation of the TGF-cytokine pathway.

Cardiac catheterization and CT angiography of PA are useful diagnostic tools in this patient for the exact evaluation and investigation of PAP.[7]

The choice of treatment of disease is dependent to its manifestation and problem of patients. For example, surgery of hernia, repair of stenosis in peripheral pulmonary branches, or correction of joint dislocation, but in asymptomatic patients, we do not need to any procedure unless specific intervention in the cases of stenosis or aneurysm.[8] Close follow-up recommended for complications in patients, and if the PS becoming progressive, suitable intervention should be done.

Our patient is one of the very limited numbers of list patients in the studies for whom percutaneous balloon angioplasty performed successfully that lead to a significant reduction of PS. In this presented case with regard to severe symptoms and severe pulmonary hypertension, we decide that balloon angioplasty was performed and after the procedure, PAP was decreased to 60 mmHG; symptoms were decreased; oxygen saturation increased to 91% but not change in shunt direction in follow-up echocardiography.


  Conclusion Top


Presentation of ATS is very different in patients and depends on mutations type of disease and even though the genetic study will not be expected have a main effect on his prognosis and treatment plan, the consequences of analysis may be important for other members of the family and may also be valuable in gene dependent therapies in future.

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. The patient gave written informed consent for the intervention and local ethical committee approved this procedure (IR.RHC.REC.1397.027).

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Moceri P, Albuisson J, Saint-Faust M, Casagrande F, Giuliano F, Devos C, et al. Arterial tortuosity syndrome: Early diagnosis and association with venous tortuosity. J Am Coll Cardiol 2013;61:783.  Back to cited text no. 1
    
2.
Zamani H, Goodarzi M, Babazadeh K, Mirzapour M. Arterial tortuosity syndrome – A case report from Iran. Caspian J Pediatr 2015;1:28-30.  Back to cited text no. 2
    
3.
Ekici F, Uçar T, Fitöz S, Atalay S, Tutar E. Cardiovascular findings in a boy with arterial tortuosity syndrome: Case report and review of the literature. Turk J Pediatr 2011;53:104-7.  Back to cited text no. 3
    
4.
Mehrabi E, Khan K, Malik SA. Arterial tortuosity syndrome. BMJ Case Rep 2016;2016: bcr2016217029.  Back to cited text no. 4
    
5.
Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, et al. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis 2009;4:20.  Back to cited text no. 5
    
6.
Loup O, Daubeney PE, Saggar A, Rubens M, Naqvi N, Ghez O. Severe arterial tortuosity in an asymptomatic infant with coarctation. Circ Cardiovasc Imaging 2013;6:487-90.  Back to cited text no. 6
    
7.
Alqahtani SF, Alzoani AA, Algathradi MA, Alhayani AA, Almetrek M. Imaging view of arterial tortuosity syndrome-case report. Egypt J Hosp Med 2018;70:1117-21.  Back to cited text no. 7
    
8.
Naunheim MR, Walcott BP, Nahed BV, MacRae CA, Levinson JR, Ogilvy CS. Arterial tortuosity syndrome with multiple intracranial aneurysms: A case report. Arch Neurol 2011;68:369-71.  Back to cited text no. 8
    


    Figures

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



 

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