Kosin Med J.  2019 Jun;34(1):47-51. 10.7180/kmj.2019.34.1.47.

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

• Cho MJ

• KMID: 2451775
• DOI: http://doi.org/10.7180/kmj.2019.34.1.47

Abstract

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.

Keyword

Atrial fibrillation; Atrioventricular block; Dysautonomias; Muscular atrophy; Spinal

MeSH Terms

Anterior Horn Cells
Atrial Fibrillation
Atrioventricular Block
Blood Pressure
Brain Stem
Child
Female
Heart Rate
Humans
Muscle Hypotonia
Muscle Weakness
Muscular Atrophy
Muscular Atrophy, Spinal*
Neuromuscular Diseases
Noninvasive Ventilation
Paralysis
Primary Dysautonomias
Respiratory Insufficiency
Respiratory Rate
Spinal Cord
Survivors*

Figure

• 

  Fig. 1 Electrocardiography at 1st presentation showing 2:1 high grade second degree atrioventricular block with an average escape beat of 50 beats per minute

• 

  Fig. 2 Electrocardiography at 2nd admission demonstrating atrial fibrillation; irregular R to R intervals, oscillating irregular baseline, and absent P waves.

Reference

1. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015; 33:831–846.

2. Butchbach ME. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci. 2016; 3:7.

3. Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve. 2002; 26:4–13.

4. Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007; 69:1931–1936.

5. Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004; 114:e548–e553.

6. Elkohen M, Vaksmann G, Elkohen MR, Francart C, Foucher C, Rey C. [Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases]. Arch Mal Coeur Vaiss. 1996; 89:611–617.

7. Takahashi N, Shimada T, Ishibashi Y, Sugamori T, Hirano Y, Oyake N, et al. Cardiac involvement in Kugelberg-Welander disease: a case report and review. Am J Med Sci. 2006; 332:354–356.

8. Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008; 45:635–638.

9. Bach JR. Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007; 86:349–355.

10. Hachiya Y, Arai H, Hayashi M, Kumada S, Furushima W, Ohtsuka E, et al. Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev. 2005; 27:574–578.