Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care?

Flaviana Bianco; Marika Pane; Adele D'Amico; Sonia Messina; Angelica Bibiana Delogu; Gianni Soraru; Maria Carmela Pera; Tiziana Mongini; Luisa Politano; Giovanni Baranello; Gianluca Vita; Francesco Danilo Tiziano; Lucia Morandi; Enrico Bertini; Eugenio Mercuri

doi:10.1055/s-0034-1395348

Neuropediatrics, Table of Contents

Neuropediatrics 2015; 46(01): 033-036
DOI: 10.1055/s-0034-1395348

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care?

Flaviana Bianco

¹Department of Paediatric Neurology, Catholic University, Rome, Italy

,

Marika Pane

¹Department of Paediatric Neurology, Catholic University, Rome, Italy

,

Adele D'Amico

²Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy

,

Sonia Messina

³Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

,

Angelica Bibiana Delogu

¹Department of Paediatric Neurology, Catholic University, Rome, Italy

,

Gianni Soraru

⁵Department of Neurosciences and Psychiatry and Anaesthesiology, University of Padoa, Padoa, Italy

,

Maria Carmela Pera

¹Department of Paediatric Neurology, Catholic University, Rome, Italy

,

Tiziana Mongini

⁶Neuromuscular Center, S.G. Battista Hospital, University of Turin, Turin, Italy

,

Luisa Politano

⁷Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy

,

Giovanni Baranello

⁸Developmental Neurology Unit, Neurological Institute C. Besta, Milan, Italy

,

Gianluca Vita

³Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

,

Francesco Danilo Tiziano

⁹Medical Genetics Institute, Catholic University, Rome, Italy

,

Lucia Morandi

⁴Department of Myopathology and Neuroimmunolgy, Pediatric Neurology and Neuroradiology Units, Neurological Institute C. Besta, Milan, Italy

,

Enrico Bertini

²Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy

,

Eugenio Mercuri

¹Department of Paediatric Neurology, Catholic University, Rome, Italy

› Author Affiliations

Abstract

Objective In the last years, there has been increasing evidence of cardiac involvement in spinal muscular atrophy (SMA). Autonomic dysfunction has been reported in animal models and in several patients with types I and III SMA, these findings raising the question whether heart rate should be routinely investigated in all SMA patients. The aim of our study was to detect possible signs of autonomic dysfunction and, more generally, of cardiac involvement in types II and III SMA.

Patients and Methods We retrospectively reviewed 24-hour electrocardiography (ECG) in 157 types II and III SMA patients (age range, 2–74 years). Of them, 82 also had echocardiography.

Results None of the patients had signs of bradycardia, atrial fibrillation, or the other previously reported rhythm disturbances regardless of the age at examination or the type of SMA. Echocardiography was also normal. There were no signs of congenital cardiac defects with the exception of one patient with a history of ventricular septal defects.

Conclusions Our results suggest that cardiac abnormalities are not common in type II and type III SMA. These findings provide no evidence to support a more accurate cardiac surveillance or changes in the existing standards of care.

Keywords

SMA - cardiac function - standard of care

Full Text

References

References
1 Menke LA, Poll-The BT, Clur SA , et al. Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. Am J Med Genet A 2008; 146A (6) 740-744
2 Rudnik-Schöneborn S, Heller R, Berg C , et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 2008; 45 (10) 635-638
3 Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil 2007; 86 (5) 339-345 , quiz 346–348, 379
4 Bach JR. Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil 2007; 86 (5) 349-355
5 Heier CR, Satta R, Lutz C, DiDonato CJ. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 2010; 19 (20) 3906-3918
6 Shababi M, Habibi J, Yang HT, Vale SM, Sewell WA, Lorson CL. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 2010; 19 (20) 4059-4071
7 Takahashi N, Shimada T, Ishibashi Y , et al. Cardiac involvement in Kugelberg-Welander disease: a case report and review. Am J Med Sci 2006; 332 (6) 354-356
8 Elkohen M, Vaksmann G, Elkohen MR, Francart C, Foucher C, Rey C. Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases [in French]. Arch Mal Coeur Vaiss 1996; 89 (5) 611-617
9 Palladino A, Passamano L, Taglia A , et al. Cardiac involvement in patients with spinal muscular atrophies. Acta Myol 2011; 30 (3) 175-178
10 Bushby K, Finkel R, Birnkrant DJ , et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9 (1) 77-93
11 Wang CH, Finkel RS, Bertini ES , et al; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007; 22 (8) 1027-1049
12 Wang CH, Lunn MR. Spinal muscular atrophy: advances in research and consensus on care of patients. Curr Treat Options Neurol 2008; 10 (6) 420-428
13 Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012; 11 (5) 443-452
14 Kinali M, Mercuri E, Main M , et al. Pilot trial of albuterol in spinal muscular atrophy. Neurology 2002; 59 (4) 609-610
15 Pane M, Staccioli S, Messina S , et al. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 2008; 18 (7) 536-540
16 Tiziano FD, Lomastro R, Pinto AM , et al. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet 2010; 47 (12) 856-858
17 Tiziano FD, Lomastro R, Di Pietro L , et al. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 2013; 21 (6) 630-636
18 Kadish AH, Buxton AE, Kennedy HL , et al. ACC/AHA clinical competence statement on electrocardiography and ambulatory electrocardiography. A report of the ACC/AHA/ACP-ASIM Task Force on Clinical Competence (ACC/AHA Committee to Develop a Clinical Competence Statement on Electrocardiography and Ambulatory Electrocardiography). J Am Coll Cardiol 2001; 38 (7) 2091-2100
19 Southall DP, Johnston F, Shinebourne EA, Johnston PG. 24-hour electrocardiographic study of heart rate and rhythm patterns in population of healthy children. Br Heart J 1981; 45 (3) 281-291
20 Quiñones MA, Douglas PS, Foster E , et al; American College of Cardiology; American Heart Association; American College of Physicians-American Society of Internal Medicine; American Society of Echocardiography; Society of Cardiovascular Anesthesiologists; Society of Pediatric Echocardiography. ACC/AHA clinical competence statement on echocardiography: a report of the American College of Cardiology/American Heart Association/American College of Physicians-American Society of Internal Medicine Task Force on Clinical Competence. J Am Coll Cardiol 2003; 41 (4) 687-708
21 Kampmann C, Wiethoff CM, Wenzel A , et al. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 2000; 83 (6) 667-672