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Year : 2017  |  Volume : 6  |  Issue : 4  |  Page : 154-156

Central line-associated bloodstream infection in a patient with vascular Ehlers–Danlos syndrome

Department of Medicine, University of Toledo Medical Center, Toledo, OH, USA

Date of Web Publication27-Oct-2017

Correspondence Address:
Stella C Pak
3000 Arlington Avenue, Toledo, OH 43614
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JCPC.JCPC_20_17

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Vascular Ehlers–Danlos Syndrome (vEDS) is a familial orphan disease inherited in autosomal dominant pattern. The prevalence of vEDS is estimated to be about 1 in 200,000. We report a case of central line-associated blood stream infection, infective endocarditis, and pulmonary septic emboli in a 21-year-old female with vEDS. Our patient was also found to have intracranial Chiari I Malformation (CIM). This case highlights the importance of screening for infective endocarditis in patients with vEDS and supports possible genetic locus homogeneity between EDS and CIM.

Keywords: Central line-associated blood stream infection, Chiari Malformation Type I, Ehlers–Danlos syndrome, infective endocarditis

How to cite this article:
Pak SC. Central line-associated bloodstream infection in a patient with vascular Ehlers–Danlos syndrome. J Clin Prev Cardiol 2017;6:154-6

How to cite this URL:
Pak SC. Central line-associated bloodstream infection in a patient with vascular Ehlers–Danlos syndrome. J Clin Prev Cardiol [serial online] 2017 [cited 2022 Dec 5];6:154-6. Available from: https://www.jcpconline.org/text.asp?2017/6/4/154/217393

  Introduction Top

Ehlers–Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutation in the genes coding for collagen synthesis. Its prevalence is known to be about 1 in 5000 people.[1] There are six major types of EDS based on clinical presentation: classical, hypermobility, vascular, kyphoscoliosis, arthroclasia, and dermatosparaxis.[2] Less than 5% of all patients with EDS are classified as the vascular type. The number of people with vascular EDS (vEDS) is estimated to be approximately 1500 in the United States. vEDS is mostly caused by autosomal dominant inheritance of mutation in collagen type III alpha-1 chain (COL3A1). COL3A1 codes for fibrillar collagen found in extensible connective tissues such as the vascular and intestinal walls.[3] Major features of vEDS include arterial and gastrointestinal fragility, thin and translucent skin, and easy bruising. vEDS is also associated with an increased risk for both ischemic and hemorrhagic stroke.[4] The median survival age of patients with vEDS is reported as 48 years old.[5] We herein report a case of central line-associated blood stream infection complicated by infective endocarditis and pulmonary septic emboli in a 21-year-old female with vEDS. Our patient was also found to have intracranial  Chiari malformation More Details Type I (CMI).

  Case Report Top

A 21-year-old female with vascular type Ehlers–Danlos Syndrome (vEDS) presented with acute onset of severe pain in abdomen, back, and legs. Her medical history was significant for mitral valve prolapse, postural orthostatic tachycardia syndrome, ischemic stroke, splenic infarction, and visual loss in the left eye from retinal arterial embolism. For chronic gastroparesis, she was on total parental nutrition (TPN) therapy past 2 weeks. TPN was provided through a triple-lumen Hickman catheter inserted into her right subclavian vein. Her blood pressure, heart rate, respiration rate, temperature, and oxygen saturation at room air were 118/71 mmHg, 125/min, 30/min, 99.8°F, and 97%, respectively. On physical examination, exquisite tenderness to palpation on epigastric area and the absence of bowel sound were noted. Cardiovascular examination showed a systolic regurgitant murmur with Grade of 3/6 at the apex. Pulmonary examination was also significant for poor inspiration with scattered wheezing. The skin of the patient was thin and translucent with a prominent venous network. Her white blood cell (WBC), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) were elevated at 10.9 × 109/L, 117 IU/L, and 112 IU/L, respectively. Her blood culture grew Enterococcus faecalis and Streptococcus mitis. Transesophageal echocardiogram (TEE) showed normal ventricular systolic function with left ventricular ejection fraction of 60%. It also demonstrated a valvular vegetation of size 1 cm × 0.5 cm on both anterior and posterior leaflets of the mitral valve with moderate mitral regurgitation [Figure 1]. Computed tomography (CT) scan of her chest showed multiple pulmonary nodules on both sides. In addition, concentrated pulmonary nodules in tree-in-bud pattern were noted in the right upper lobe. This finding was consistent with a diagnosis of pulmonary septic emboli. CT scan of abdomen showed bilateral pleural effusion.
Figure 1: Transesophageal echocardiogram demonstrating a vegetation on the mitral valve

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Following intravenous (IV) antibiotic therapy with ampicillin (2 g Q4H) and vancomycin (500 mg Q8H) and removal of the catheter, pain, dyspnea, and fever decreased rapidly. Her WBC and liver enzymes gradually trended down to the normal range. Repeated blood cultures were consistently negative. A new Hickman catheter was placed in the left subclavian vein for continuation of TPN and IV antibiotic therapy in the outpatient setting.

During this admission, our patient complained worsening of her chronic headache in the occipital region. She also reported intermittent episodes of dysphagia, hearing loss, and peripheral neuropathy involving both her hands and feet. The magnetic resonance imaging of her brain showed 7 mm of cerebral herniation due to intracranial CMI. For CMI, she was referred to neurosurgery outpatient clinic for further examination and management including posterior fossa decompression.

With new Hickman catheter, she was discharged on 13th day of hospitalization. At the time of discharge, her vital signs (106/74 mmHg, 85/min, 19/min, 97.8 °F, and 100%), WBC (6.3 × 109/L), and liver enzymes (ALT 48 IU/L and AST 26 IU/L) were all within the normal limit. After discharge, she stayed on vancomycin and ampicillin for 35 days. At 1 month follow-up visit, she was in good condition without recurrence of bacteremia or catheter infection. TEE performed at her 6 month follow-up did not show any valvular vegetation.

  Discussion Top

Known risk factors for infective endocarditis include IV drug use, prosthetic valve, implanted cardiac device, indwelling vascular catheter, cardiac valvular abnormality, congenital heart disease, rheumatic heart disease, and diabetes.[6] Our patient had two risk factors for infective endocarditis: mitral valve prolapse and indwelling vascular catheter. The incidence of infective endocarditis in patients with mitral valve prolapse is about 8 times higher than general population.[7] Among outpatients, the incidence of central line-associated bloodstream infection is 0.5% for patients with peripherally inserted central venous catheters placement.[8] Proactive risk assessment and regular screening of the potential entry site for organisms may have prevented this episode of infective endocarditis.

Arterial complications, including arterial rupture, dissection, and fistulae, are the leading causes of death in patients with vEDS.[5],[9] Rupture of the chordae tendineae or ventricular walls of heart and coronary artery dissection are also well-known complications of vEDS.[9] The heightened sympathetic activity in sepsis can cause excessive cardiovascular strain. In sepsis, the cardiovascular stress and systemic inflammation response can predispose patients with vEDS to arterial complications. In the light of the predisposition of patients with vEDS to lethal arterial complication, vigorous efforts should be put forth to manage risk factors for bloodstream infection and infective endocarditis. Reduced reactivity in the vascular wall is another reason and CLABI in a patient with vEDS can be particularly lethal.[10] Dysautonomia in vEDS interferes with body's compensating mechanism in the setting of septic shock, resulting in a rapid deterioration.

Intracranial CMI is a congenital anomaly defined as the displacement of the cerebellar tonsil 5 mm or more below the foramen magnum. The prevalence of CMI is estimated to be between 0.24% and 3.6% of the general population.[11] CMI is three times more common in EDS than general population. A plausible hypothesis for this concurrence of rare disorders is the shared genetic locus.[12] This finding underlines the importance of sustaining high index of suspicion for CMI for patients with EDS who present with neurological symptoms and signs such as headache or motor coordination difficulty.

In summary, we presented a case of vEDS complicated by sepsis, infective endocarditis, and pulmonary septic emboli. Despite the lack of treatment for vEDS, close surveillance and early intervention have been associated with prolonged survival.[9] Due to the rarity of the clinical entity, there is no guideline available for surveillance and management of vEDS. Thus, clinical judgment and decision-making skills of clinicians are critical in the care of patients with vEDS.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Lawrence EJ. The clinical presentation of Ehlers-Danlos syndrome. Adv Neonatal Care 2005;5:301-14.  Back to cited text no. 1
Parapia LA, Jackson C. Ehlers-Danlos syndrome – A historical review. Br J Haematol 2008;141:32-5.  Back to cited text no. 2
Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers-Danlos syndrome: A systematic review. Ann Surg 2013;258:257-61.  Back to cited text no. 3
Yeowell HN, Pinnell SR. The Ehlers-Danlos syndromes. Semin Dermatol 1993;12:229-40.  Back to cited text no. 4
Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007;2:32.  Back to cited text no. 5
Katan O, Michelena HI, Avierinos JF, Mahoney DW, DeSimone DC, Baddour LM, et al. Incidence and predictors of infective endocarditis in mitral valve prolapse: A population-based study. Mayo Clin Proc 2016;91:336-42.  Back to cited text no. 6
Chopra V, O'Horo JC, Rogers MA, Maki DG, Safdar N. The risk of bloodstream infection associated with peripherally inserted central catheters compared with central venous catheters in adults: A systematic review and meta-analysis. Infect Control Hosp Epidemiol 2013;34:908-18.  Back to cited text no. 7
Pepin MG, Murray ML, Byers PH. Vascular Ehlers-Danlos syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al., editors. GeneReviews (R). University of Washington, Seattle. GeneReviews is a Registered Trademark of the University of Washington, Seattle. Seattle, WA: University of Washington, Seattle; 1993.  Back to cited text no. 8
Kahn EN, Muraszko KM, Maher CO. Prevalence of chiari I malformation and syringomyelia. Neurosurg Clin N Am 2015;26:501-7.  Back to cited text no. 9
Guyot E, Carillion A, Poli-Merol ML, Ferrand I, Amory C, Chaoudi D, et al. Ehlers-Danlos syndrome type IV in a child admitted in emergency with peritonitis. Br J Anaesth 2009;103:615-6.  Back to cited text no. 10
Henderson FC Sr., Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, et al. Neurological and spinal manifestations of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017;175:195-211.  Back to cited text no. 11
Nagy L, Mobley J, Ray C. Familial aggregation of chiari malformation: Presentation, pedigree, and review of the literature. Turk Neurosurg 2016;26:315-20.  Back to cited text no. 12


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