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Severe cardiac involvement in children with systemic sclerosis and myositis
Pierre Quartier1, Damien Bonnet, Jean-Christophe Fournet
1Unité d'Immunologie-hématologie et Rhumatologie Pédiatrique, Hĵpital Necker-Enfants Malades, Paris, France.
Insights
Children with systemic sclerosis and polymyositis features often develop severe heart issues. Combination therapy may help muscle, skin, and lung symptoms but not heart or esophageal problems.
Area of Science:
- Pediatric Rheumatology
- Systemic Autoimmune Diseases
- Cardiomyopathy
Background:
- Systemic sclerosis (SSc) is a rare autoimmune disease affecting connective tissues.
- Polymyositis features, including muscle weakness and elevated muscle enzymes, can co-occur in pediatric SSc.
- Multivisceral involvement is a significant concern in pediatric SSc.
Purpose of the Study:
- To evaluate the clinical outcomes of children diagnosed with systemic sclerosis (SSc) who also exhibit features of polymyositis.
- To assess the efficacy of a specific combination therapy in managing symptoms and disease progression.
Main Methods:
- Retrospective chart review of 4 pediatric patients meeting American College of Rheumatology criteria for SSc.
- Inclusion criteria included proximal muscle weakness and elevated serum creatine phosphokinase or aldolase.
- Assessment of multivisceral involvement and response to combination therapy (corticosteroids, methotrexate, cyclosporine).
Main Results:
- All patients presented with multivisceral involvement, notably myocardial perfusion defects and dilated cardiomyopathy.
- Combination therapy improved skin thickness, muscle strength, and lung function in most patients.
- Therapy showed limited efficacy for esophageal dysmotility, intestinal malabsorption, and dilated cardiomyopathy; 2 deaths occurred due to end-stage cardiac failure.
Conclusions:
- Pediatric patients with diffuse cutaneous SSc and polymyositis features are at high risk for severe cardiomyopathy.
- Combination therapy demonstrates activity against muscle, skin, and lung manifestations but not esophageal or myocardial dysfunction.
- Heart transplantation is a potential experimental treatment for young SSc patients with severe cardiomyopathy and no other irreversible organ damage.
Objective:
To assess the outcome of children with systemic sclerosis (SSc) and features of polymyositis.
Methods:
The charts of 4 children who met the American College of Rheumatology criteria for SSc and had features of polymyositis, as defined by the presence of proximal muscle weakness and elevated serum creatine phosphokinase or aldolase level, were retrospectively reviewed.
Results:
All children had multivisceral involvement including (1) myocardial perfusion defects in all cases, with mild to severe dilated cardiomyopathy in 3; (2) lung restrictive syndrome in 3; (3) mild to severe esophageal involvement in all cases; and (4) severe intestinal dysfunction in one child. Combination therapy of corticosteroids, methotrexate (MTX), and cyclosporine resulted in improved skin thickness and muscle strength scores in all cases, as well as in lung restrictive syndrome in 2, but was not effective regarding the progression of intestinal malabsorption in one patient, esophageal dysmotility in 3 patients, and dilated cardiomyopathy in 3. Endstage cardiac failure caused 2 deaths. In one child, heart transplantation was performed for the first time in this indication.
Conclusion:
Children with diffuse cutaneous SSc and features of polymyositis are prone to develop severe cardiomyopathy. Combination therapy of corticosteroids, MTX, and cyclosporine seems to be active on muscle, skin, and lung involvement but does not impair progression of esophageal or myocardial dysfunction. Heart transplantation might be considered, as an experimental treatment, in young patients with severe cardiomyopathy and no other irreversible organ damage.