Ann Thorac Surg 2010;89:273-275. doi:10.1016/j.athoracsur.2009.06.033
© 2010 The Society of Thoracic Surgeons
Case Reports
Successful Surgical Treatment of Atrial Fibrillation, Mitral Regurgitation, and Aortic Root Aneurysm in a Patient With Classical Type Ehlers-Danlos Syndrome
Matthias Sauer, MD*,
Michael A. Borger, MD, PhD,
Joerg Seeburger, MD,
Friedrich W. Mohr, MD, PhD
Department of Cardiac Surgery, Heart Center Leipzig, University of Leipzig, Leipzig, Germany
Accepted for publication June 4, 2009.
* Address correspondence to Dr Sauer, Heartcenter University of Leipzig, Struempelstrasse 39, Leipzig, 04289, Germany (Email: matthiassauer{at}yahoo.de).
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Abstract
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Herein, we present an unusual case of a 48-year-old patient with Ehlers-Danlos syndrome (classic type) with multiple cardiovascular pathologies, including mitral regurgitation, a dilated aortic root, and chronic atrial fibrillation. A complex mitral valve repair, modified cryo-Maze procedure, and aortic valve-sparing operation (reimplantation) were performed, which were further complicated by the patient's fragile tissues. The patient was discharged on postoperative day 10 in good health with normal mitral and aortic valve function. We believe that this is the first report of such an extensive cardiac procedure in a patient with Ehlers-Danlos syndrome.
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Introduction
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Ehlers-Danlos syndrome is a type of connective tissue disorder that displays Mendelian inheritance and is caused by abnormal collagen synthesis. Fragility of skin and blood vessels, and joint hypermobility are all characteristic clinical features. Multiple cardiovascular pathologies have been described in association with EDS, including arterial aneurysm formation and rupture, as well as MV prolapse [1]. According to the Villefranche classification, the current main forms of EDS are classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis types [2]. The classical type of EDS is characterized by abnormal synthesis of collagen type V. In recent studies, mutations in COL5A1 and COL5A2 genes, encoding for type V collagen, were detected in patients having the classical type of EDS [3, 4].
In the case herein, we report a 48-year-old patient with Ehlers-Danlos syndrome (EDS) (classic type) and different cardiovascular pathologies, including mitral regurgitation, dilated aortic root, and chronic atrial fibrillation.
On admission to our hospital the patient complained of progressive dyspnea and a systolic heart murmur that was evident in the mitral area. Severe mitral regurgitation secondary to anterior mitral valve (MV) leaflet prolapse was demonstrated by echocardiogram. The left ventricle was dilated (end-diastolic diameter, 6.9 cm) with an ejection fraction of 74%. An electrocardiogram showed atrial fibrillation. A dilated aortic root (43 mm) was verified using computed tomography. The patient had a previous history of dissected abdominal aortic aneurysm, which showed no progress in size (42 mm) from a computed tomography performed 8 years previously. Normal coronary arteries were confirmed using cardiac catheterization.
An operation was performed using mild hypothermia (34°C), standard cannulation of the distal ascending aorta and both cavae, and crystalloid cardioplegic arrest. Inspection of the MV revealed a dilated annulus and elongated chordae tendinea of both leaflets. The anterior leaflet chordae supplying A1 and A2 were ruptured. A left atrial Cox maze procedure was performed with a flexible cryoablation catheter (CryoMaze; ATS Medical, Minneapolis, MN) [5]. Gore-Tex loops (W. L. Gore and Associates, Flagstaff, AZ) were used to create neochordae for the A1 and A2 segments, as previously described [6]. A partial annuloplasty ring (ATS Simulus semi-rigid, annuloplasty ring, 34 mm [ATS Medical]) was inserted to correct the dilated mitral annulus. A complete rigid ring was not inserted because of the anticipated aortic valve reconstruction and to avoid distortion of the aortic annulus. The dilated aortic root was repaired using reimplantation of the native valve within a 30-mm Hemashield graft (Boston Scientific, Natick, MA) (David procedure) [7]. The aortic cross-clamp time was 162 minutes, and the total cardiopulmonary bypass time was 206 minutes. An intraoperative echocardiogram showed successful aortic and mitral valve reconstruction without any insufficiency. There were no intraoperative complications.
Histologic examination of the excised ascending aorta showed mucoid degeneration of the media and confirmed the diagnosis of EDS.
The postoperative course was uneventful, except for a pericardiocentesis that was performed for a pericardial effusion on postoperative day 7. A pre-discharge echocardiogram showed normal aortic and mitral valve function with no insufficiency of either valve. The patient was discharged in stable sinus rhythm 10 days postoperatively.
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Comment
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In the current case report, the diagnosis of EDS was made on the basis of clinical features and exclusion of other connective tissue disorders. The classical type of EDS is characterized by concomitant hyperextensibility of skin, atrophic scars, and joint hypermobility (major diagnostic criteria) [2], all of which were found in our patient. The absence of chronic joint pain (hypermobile type), thin translucent skin (vascular type), distinct scoliosis (kyphoscoliosis type), congenital bilateral hip dislocation (arthrochalasis type), and sagging, redundant skin (dermatosparaxis type) permitted the diagnosis of the classical type EDS. Other connective tissue disorders that can give rise to severe cardiovascular pathologies, such as Marfan syndrome, Shprintzen-Goldberg syndrome or Loeys-Dietz syndrome, do not have typical skin manifestation, such as with EDS patients. It is important to note, that EDS patients have a higher risk than with other connective tissue disorders for delayed wound healing and atrophic scars.
Mitral valve prolapse has been described to be a prevalent pathology in EDS [1]. The best surgical procedure on EDS patients presenting with mitral regurgitation has yet to be defined. Only very limited data exist on successful surgical treatment of mitral regurgitation and EDS. Takano and colleagues [8] described successful MV replacement in EDS patients. In contrast, Goto and colleagues [9] reported on successful MV repair in combination with CryoMaze procedure in an EDS patient. Although concerns have been expressed regarding the long-term durability of MV repair in patients with connective tissue disorders because of the tissue weakness that exists in the retained MV leaflets, it is important to note that very good long-term results have been achieved for MV repair in Marfan patients [10]. In addition to the hemodynamic benefits and decreased risk of subsequent endocarditis for valve repair surgery in comparison with valve replacement, it should be also noted that avoidance of warfarin may be particularly beneficial in EDS patients because of their increased tendency for bleeding.
Regarding optimal surgical treatment of chronic atrial fibrillation in EDS patients, no published data were found. For the restoration of sinus rhythm we used a left-sided cryoablation Maze procedure [5] because of possibly less thrombogenic events than using radiofrequency ablation technique [11], as well as a decreased risk of collateral injury to the esophagus.
Dilation of the aortic root or ascending aorta, or both, is a potential life-threatening complication, which is commonly encountered in EDS patients [12]. Very few publications have focused on outcome data of aortic surgery in EDS patients. However, de Oliveira and colleagues [13] published results of aortic surgery in patients with Marfan syndrome and suggested that aortic valve-sparing surgery is associated with less valve-related complications than aortic root replacement. Very good, long-term results have been achieved for aortic valve-sparing surgery in Marfan patients despite the fibrillin deficiency in the retained aortic leaflets [13].
Due to the unique combination of problems and a relative paucity of cardiac surgical literature on EDS, the best surgical option for our particular patient was not easy to determine. Normally we would perform isolated MV repair through a right mini-thoracotomy with cannulation of the femoral vessels. Femoral cannulation was not an option in our patient, however, because of his known dissected abdominal aneurysm. His previous history of aortic dissection, despite the small abdominal aortic diameter (42 mm), suggested a strong propensity to aortic complications. Consideration of this factor along with fact that the MV had to be operated on through a median sternotomy led us to perform concomitant aortic valve-sparing replacement of the aortic root and ascending aorta, despite the non-severe dilation (43 mm) of the ascending aorta. Fortunately the patient did not have any complications develop that were related to this complex procedure. The excellent echocardiographic result at the time of discharge suggests a result that should be very long-lasting with no need for warfarin therapy.
In conclusion, we present a case study of an EDS patient who underwent complex aortic and mitral valve reconstruction, as well as atrial fibrillation cryoablation. We believe the patient received an optimal outcome that should be very long-lasting without the need for anticoagulation therapy.
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References
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- Proske S, Hartschuh W, Enk A, et al. [Ehlers-Danlos syndrome—20 years experience with diagnosis and classification at the university skin clinic of Heidelberg] J Dtsch Dermatol Ges 2006;4:308-318.[Medline]
- Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77:31-37.[Medline]
- De Paepe A, Nuytinck L, Hausser I, et al. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II Am J Hum Genet 1997;60:547-554.[Medline]
- Richards AJ, Martin S, Nicholls AC, et al. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II J Med Genet 1998;35:846-848.[Abstract/Free Full Text]
- Doll N, Meyer R, Walther T, et al. A new cryoprobe for intraoperative ablation of atrial fibrillation Ann Thorac Surg 2004;77:1460-1462.[Abstract/Free Full Text]
- Seeburger JBM, Falk V, Mohr FW. Gore-Tex loop implantation for mitral valve prolapse: the Leipzig Loop technique Op Tech Thorac Cardiovasc Surg 2008;13:83-90.
- David TE, Feindel CM. An aortic valve-sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta J Thorac Cardiovasc Surg 1992;103:617-621.[Abstract]
- Takano H, Miyamoto Y, Sawa Y, et al. Successful mitral valve replacement in a patient with Ehlers-Danlos syndrome type VI Ann Thorac Surg 2005;80:320-322.[Abstract/Free Full Text]
- Goto T, Kobayashi J, Nakajima H, et al. Mitral valve repair and cryo-Maze procedure in Ehlers-Danlos syndrome Asian Cardiovasc Thorac Ann 2005;13:181-183.[Abstract/Free Full Text]
- Bhudia SK, Troughton R, Lam BK, et al. Mitral valve surgery in the adult Marfan syndrome patient Ann Thorac Surg 2006;81:843-848.[Abstract/Free Full Text]
- Khairy P, Chauvet P, Lehmann J, et al. Lower incidence of thrombus formation with cryoenergy versus radiofrequency catheter ablation Circulation 2003;107:2045-2050.[Abstract/Free Full Text]
- Wenstrup RJ, Meyer RA, Lyle JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome Genet Med 2002;4:112-117.[Medline]
- de Oliveira NC, David TE, Ivanov J, et al. Results of surgery for aortic root aneurysm in patients with Marfan syndrome J Thorac Cardiovasc Surg 2003;125:789-796.[Abstract/Free Full Text]
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Abstract
Introduction
