J Artif Organs DOI 10.1007/s10047-014-0781-1
CASE REPORT
Artificial Heart (Clinical)
Use of left ventricular assist device for cardiomyopathy associated with arthrogryposis multiplex congenita Prashant N. Mohite • Anton Sabashnikov • Christopher T. Bowles • Diana Garcı´a Sa´ez • Javid Fatullayev • Bartlomiej Zych • Andre´ R. Simon
Received: 25 March 2014 / Accepted: 11 June 2014 Ó The Japanese Society for Artificial Organs 2014
Abstract Arthrogryposis multiplex congenita (AMC) is characterized by contractions of multiple joints present at birth. AMC is rarely associated with cardiomyopathy. We present a case of a young man with dilated cardiomyopathy associated with AMC admitted with rapidly deteriorating severe heart failure who was offered left ventricular assist device as a bridge to transplant. Keywords Arthrogryposis multiplex congenita Ventricular assist device Bridge to transplantation
Introduction Arthrogryposis multiplex congenita (AMC) is a rare disease (1:3,000) of multifactorial origin, mainly associated with limited flexion of joints of the arms and neck and with absent flexion creases of the fingers [1]. AMC is rarely associated with cardiomyopathy leading to heart failure. While heart transplantation remains the gold standard for patients with end stage heart failure, left ventricular assist devices (LVAD) are valuable therapeutic option for these patients, either as a short-term support, as bridge to transplant, bridge to recovery or as chronic support therapy [2].
P. N. Mohite (&) A. Sabashnikov (&) C. T. Bowles D. G. Sa´ez J. Fatullayev B. Zych A. R. Simon Department of Cardiothoracic Transplantation and Mechanical Circulatory Support, Royal Brompton & Harefield NHS Foundation Trust, Harefield Hospital, Hill End Road, Harefield, Middlesex UB9 6JH, UK e-mail: [email protected] A. Sabashnikov e-mail: [email protected]
Case report A 37-year-old gentleman presented with a 2 months history of fatigue, exertional breathlessness and peripheral oedema. He had AMC deformities including a rudimentary biceps and short middle three digits on the left side and a rudimentary triceps muscle and weak thumb and index finger on the right side significantly impeding his dexterity (i.e. fine work like screwing, plugging or unplugging small items, Fig. 1). On admission, his echocardiography showed severely dilated ventricles with impaired systolic function (left ventricular ejection fraction of 5–10 %). Despite optimum medical therapy, his myocardial function kept deteriorating with worsening dyspnoea and right heart failure resulting in peripheral edema, ascites, and elevated jugular venous pressure. After complete assessment, he was accepted on the waiting list for heart transplantation. Due to continuing deterioration, it was decided at this point to commence the patient on Milrinone and intensify the diuretic therapy; patient’s condition, however, continued to deteriorate. As a last resort, LVAD implantation as a bailout procedure as a bridge to transplant was performed in Harefield Hospital. A Heart Ware (Framingham, MA, USA) was implanted in a routine fashion using cardiopulmonary bypass, after which patient made an uneventful recovery. The driveline placement was performed using the conventional surgical technique penetrating the skin after a short subfascial course directly under the right subcostal margin. The driveline exit site was located in a usual right subcostal area. Despite intensive training in preparation for discharge, the patient was unable to extract the percutaneous driveline plug from the controller due to his physical disability. A custom made driveline handling tool was issued to the patient to allow him to carry out this procedure in the event
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J Artif Organs
Fig. 1 Patient’s short digits on the left side caused by arthrogryposis multiplex congenita
cardiomyopathy and the patient presented with severe end stage heart failure refractory to maximum medical treatment. LVAD implantation is becoming a viable and more widespread treatment for patients with end-stage heart failure [4]. The increased applicability and excellent results with LVADs has revolutionized the treatment options available for the patient with end-stage heart failure. Although there was a clear rationale for LVAD use in our patient, it was uncertain whether this was a viable strategy in view of his physical disability attributed to AMC. However, modern LVADs with user friendly external equipment and light weight battery enables physically challenged patients to cope up. The use of a customized driveline handling tool enabled the patient to live independently in the community. The extraction tool is described elsewhere in detail [5]. The insight gained from this case encouraged our team to implant LAVD in a patient with mild physical disability due to previous stroke who managed it successfully, as well.
Conclusion Heart failure not controlled by medical treatment is rarely associated with AMC. LVAD therapy is a feasible option in cases of heart failure patients with acceptable physical disability associated with AMC or any other cause. The physically challenged patients should be given a chance of LVAD handling training and this potentially lifesaving therapy should not be precluded purely on account of physical disability. Fig. 2 Custom made drive line handling tool
of controller malfunction necessitating controller replacement (Fig. 2). Since then, despite his physical disability, he has been able to manage the LVAD peripherals independently and efficiently for 3 years of follow-up. He remains on the waiting list for heart transplantation.
Discussion To be defined as AMC, there should be contractures in multiple joints in multiple body areas present at birth [1]. Our patient had a rudimentary biceps and short middle three digits on the left side and a rudimentary triceps muscle and weak thumb and index finger on the right side. AMC is rarely associated with cardiomyopathy and scarcely reported in the literature [3]. In the present case, the AMC was associated with dilated
123
Conflict of interest of interest.
The authors declare that they have no conflict
References 1. Lacassie Y, Sack GH Jr, McKusick VA. An autosomal dominant form of arthrogryposis multiplex congenita (AMC) with unusual dermatoglyphics. (Abstract). Birth Defects Orig Art Ser. 1977;13:246–7. 2. Sabashnikov A, Mohite PN, Simon AR, Popov AF. Heart Ware miniaturized intrapericardial ventricular assist device: advantages and adverse events in comparison to contemporary devices. Expert Rev Med Devices. 2013;10:441–52. 3. Parker MJ, Groggins RC, Rees PG, Young ID. Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy—a new syndrome? Clin Dysmorphol. 1998;7:205–8. 4. Frazier OH, Rose EA, Oz MC, et al. Multicenter clinical evaluation of the HeartMate vented electric left ventricular assist system in patients awaiting heart transplantation. J Thorac Cardiovasc Surg. 2001;122:1186–95. 5. Mohite PN, Bowles CT, Simon AR. A novel drive-line handling tool for the Heart Ware ventricular assist device in patients with a physical disability. J Heart Lung Transplant. 2012;31:1323–5.
CASE REPORT
Artificial Heart (Clinical)
Use of left ventricular assist device for cardiomyopathy associated with arthrogryposis multiplex congenita Prashant N. Mohite • Anton Sabashnikov • Christopher T. Bowles • Diana Garcı´a Sa´ez • Javid Fatullayev • Bartlomiej Zych • Andre´ R. Simon
Received: 25 March 2014 / Accepted: 11 June 2014 Ó The Japanese Society for Artificial Organs 2014
Abstract Arthrogryposis multiplex congenita (AMC) is characterized by contractions of multiple joints present at birth. AMC is rarely associated with cardiomyopathy. We present a case of a young man with dilated cardiomyopathy associated with AMC admitted with rapidly deteriorating severe heart failure who was offered left ventricular assist device as a bridge to transplant. Keywords Arthrogryposis multiplex congenita Ventricular assist device Bridge to transplantation
Introduction Arthrogryposis multiplex congenita (AMC) is a rare disease (1:3,000) of multifactorial origin, mainly associated with limited flexion of joints of the arms and neck and with absent flexion creases of the fingers [1]. AMC is rarely associated with cardiomyopathy leading to heart failure. While heart transplantation remains the gold standard for patients with end stage heart failure, left ventricular assist devices (LVAD) are valuable therapeutic option for these patients, either as a short-term support, as bridge to transplant, bridge to recovery or as chronic support therapy [2].
P. N. Mohite (&) A. Sabashnikov (&) C. T. Bowles D. G. Sa´ez J. Fatullayev B. Zych A. R. Simon Department of Cardiothoracic Transplantation and Mechanical Circulatory Support, Royal Brompton & Harefield NHS Foundation Trust, Harefield Hospital, Hill End Road, Harefield, Middlesex UB9 6JH, UK e-mail: [email protected] A. Sabashnikov e-mail: [email protected]
Case report A 37-year-old gentleman presented with a 2 months history of fatigue, exertional breathlessness and peripheral oedema. He had AMC deformities including a rudimentary biceps and short middle three digits on the left side and a rudimentary triceps muscle and weak thumb and index finger on the right side significantly impeding his dexterity (i.e. fine work like screwing, plugging or unplugging small items, Fig. 1). On admission, his echocardiography showed severely dilated ventricles with impaired systolic function (left ventricular ejection fraction of 5–10 %). Despite optimum medical therapy, his myocardial function kept deteriorating with worsening dyspnoea and right heart failure resulting in peripheral edema, ascites, and elevated jugular venous pressure. After complete assessment, he was accepted on the waiting list for heart transplantation. Due to continuing deterioration, it was decided at this point to commence the patient on Milrinone and intensify the diuretic therapy; patient’s condition, however, continued to deteriorate. As a last resort, LVAD implantation as a bailout procedure as a bridge to transplant was performed in Harefield Hospital. A Heart Ware (Framingham, MA, USA) was implanted in a routine fashion using cardiopulmonary bypass, after which patient made an uneventful recovery. The driveline placement was performed using the conventional surgical technique penetrating the skin after a short subfascial course directly under the right subcostal margin. The driveline exit site was located in a usual right subcostal area. Despite intensive training in preparation for discharge, the patient was unable to extract the percutaneous driveline plug from the controller due to his physical disability. A custom made driveline handling tool was issued to the patient to allow him to carry out this procedure in the event
123
J Artif Organs
Fig. 1 Patient’s short digits on the left side caused by arthrogryposis multiplex congenita
cardiomyopathy and the patient presented with severe end stage heart failure refractory to maximum medical treatment. LVAD implantation is becoming a viable and more widespread treatment for patients with end-stage heart failure [4]. The increased applicability and excellent results with LVADs has revolutionized the treatment options available for the patient with end-stage heart failure. Although there was a clear rationale for LVAD use in our patient, it was uncertain whether this was a viable strategy in view of his physical disability attributed to AMC. However, modern LVADs with user friendly external equipment and light weight battery enables physically challenged patients to cope up. The use of a customized driveline handling tool enabled the patient to live independently in the community. The extraction tool is described elsewhere in detail [5]. The insight gained from this case encouraged our team to implant LAVD in a patient with mild physical disability due to previous stroke who managed it successfully, as well.
Conclusion Heart failure not controlled by medical treatment is rarely associated with AMC. LVAD therapy is a feasible option in cases of heart failure patients with acceptable physical disability associated with AMC or any other cause. The physically challenged patients should be given a chance of LVAD handling training and this potentially lifesaving therapy should not be precluded purely on account of physical disability. Fig. 2 Custom made drive line handling tool
of controller malfunction necessitating controller replacement (Fig. 2). Since then, despite his physical disability, he has been able to manage the LVAD peripherals independently and efficiently for 3 years of follow-up. He remains on the waiting list for heart transplantation.
Discussion To be defined as AMC, there should be contractures in multiple joints in multiple body areas present at birth [1]. Our patient had a rudimentary biceps and short middle three digits on the left side and a rudimentary triceps muscle and weak thumb and index finger on the right side. AMC is rarely associated with cardiomyopathy and scarcely reported in the literature [3]. In the present case, the AMC was associated with dilated
123
Conflict of interest of interest.
The authors declare that they have no conflict
References 1. Lacassie Y, Sack GH Jr, McKusick VA. An autosomal dominant form of arthrogryposis multiplex congenita (AMC) with unusual dermatoglyphics. (Abstract). Birth Defects Orig Art Ser. 1977;13:246–7. 2. Sabashnikov A, Mohite PN, Simon AR, Popov AF. Heart Ware miniaturized intrapericardial ventricular assist device: advantages and adverse events in comparison to contemporary devices. Expert Rev Med Devices. 2013;10:441–52. 3. Parker MJ, Groggins RC, Rees PG, Young ID. Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy—a new syndrome? Clin Dysmorphol. 1998;7:205–8. 4. Frazier OH, Rose EA, Oz MC, et al. Multicenter clinical evaluation of the HeartMate vented electric left ventricular assist system in patients awaiting heart transplantation. J Thorac Cardiovasc Surg. 2001;122:1186–95. 5. Mohite PN, Bowles CT, Simon AR. A novel drive-line handling tool for the Heart Ware ventricular assist device in patients with a physical disability. J Heart Lung Transplant. 2012;31:1323–5.
