Have patients with Pompe disease (Glycogen Storage Disease Type II) undergone heart transplantation?

From the Guidelines

Yes, patients with Pompe disease have undergone heart transplantation, although it is a rare and complex procedure. Pompe disease, a genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase, leads to glycogen accumulation in various tissues, particularly the heart and skeletal muscles 1. In severe cases, heart transplantation has been considered as a treatment option, especially when cardiac involvement is not adequately managed with enzyme replacement therapy (ERT) 1.

Key Considerations

• The decision for heart transplantation in patients with Pompe disease is individualized, taking into account disease progression, response to ERT, and overall prognosis 1.
• Post-transplant management includes standard immunosuppressive therapy along with continued ERT to address the underlying enzyme deficiency 1.
• The multisystem nature of Pompe disease presents unique challenges for transplant outcomes, as the disease affects other organs beyond the heart 1.

Treatment Approach

• Patients with Pompe disease typically receive alglucosidase alfa (Myozyme or Lumizyme) as ERT before and after transplantation 1.
• The use of home inotropic support can be considered in patients with end-stage heart failure who are not candidates for mechanical circulatory support or heart transplantation 1.

Clinical Implications

• Careful consideration must be given to the potential risks and benefits of heart transplantation in patients with Pompe disease, including the impact of concomitant skeletal muscle weakness or restrictive lung disease on perioperative risk 1.

From the Research

Heart Transplantation in Pompe Disease

There is no direct evidence in the provided studies to suggest that patients with Pompe disease have undergone heart transplantation.

• The studies primarily focus on the treatment and management of Pompe disease, including enzyme replacement therapy 2, 3, 4 and rehabilitation management 5.
• One study reports on a case of infantile Pompe disease with intrauterine onset, where the patient died at seven months of age from cardiopulmonary failure 6.
• Another study discusses the emergence of a complicated new phenotype with central nervous system involvement following long-term treatment with enzyme replacement therapy 2.
• However, none of the studies mention heart transplantation as a treatment option for patients with Pompe disease.

Treatment Options for Pompe Disease

The provided studies discuss various treatment options for Pompe disease, including:

• Enzyme replacement therapy (ERT) with alglucosidase alfa 2, 3, 4
• Emerging therapies such as tissue-targeted ERT, substrate reduction therapy, and gene therapy 2
• Rehabilitation management, including inspiratory muscle training and aerobic exercise 5