Dilated Cardiomyopathy in Kugelberg-Welander Disease: Coexisting Sleep Disordered Breathing and Its Treatment with Continuous Positive Airway Pressure

Yasuma, Fumihiko; Kuru, Satoshi; Konagaya, Masaaki

doi:10.2169/internalmedicine.43.951

Cited by 12 publications

(19 citation statements)

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“…Genetic tests to confirm homozygous deletion of SMN1 were performed in 5 patients (4%) and confirmed in 4 [47, 86, 88, 89, 91]. It remains unclear whether this one patient might have had a hemizygous deletion in combination with an intragenic SMN1 point mutation, or ‘non-5q’ SMA [88].…”

Section: Resultsmentioning

confidence: 99%

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Cardiac pathology in spinal muscular atrophy: a systematic review

Wijngaarde

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Stam

et al. 2017

Orphanet J Rare Dis

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BackgroundHereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models.MethodsWe systematically reviewed reported cardiac pathology in relation to SMN deficiency. To investigate the relevance of the possible association in more detail, we used clinical classification systems to characterize structural cardiac defects and arrhythmias.ConclusionsSeventy-two studies with a total of 264 SMA patients with reported cardiac pathology were identified, along with 14 publications on SMA mouse models with abnormalities of the heart. Structural cardiac pathology, mainly septal defects and abnormalities of the cardiac outflow tract, was reported predominantly in the most severely affected patients (i.e. SMA type 1). Cardiac rhythm disorders were most frequently reported in patients with milder SMA types (e.g. SMA type 3). All included studies lacked control groups and a standardized approach for cardiac evaluation.The convergence to specific abnormalities of cardiac structure and function may indicate vulnerability of specific cell types or developmental processes relevant for cardiogenesis. Future studies would benefit from a controlled and standardized approach for cardiac evaluation in patients with SMA.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0613-5) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

“…Q-waves or ST-changes) [72, 73, 76, 77, 80, 81], two patients had systolic pump function abnormalities [86, 88], and 2 others had ECG abnormalities that could not be classified further [20, 83]. …”

Section: Resultsmentioning

confidence: 99%

Cardiac pathology in spinal muscular atrophy: a systematic review

Wijngaarde

Blank

Stam

et al. 2017

Orphanet J Rare Dis

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“…Polysomnography showed an apnea/hypopnea index of 33.3 per hour and Cheyne Stokes breathing. Use of nasal continuous positive airway pressure improved the sleep quality (apnea/hypopnea index, 4.9) as well as cardiac function [28]. Sleep disturbances are common in painful neuropathies.…”

Section: Spinal Muscular Atrophymentioning

confidence: 99%

Sleep disorders in neuromuscular diseases

Dhand¹,

Dhand

2006

Current Opinion in Pulmonary Medicine

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“…4 Congenital heart defects are known to occur in SMA. [5][6][7] Furthermore, hypertrophic cardiomyopathy was described in a patient with a SMA-like syndrome attributable to cytocrome-c-oxidase deficiency in skeletal muscle. 11 12 In contrast, cardiac involvement has not been previously described in HSP.…”

Section: Discussionmentioning

confidence: 99%

“…4 Congenital heart defects have been seen in a few cases of SMA. [5][6][7] We now report on four patients with definite ALS and two patients with pure HSP in whom cardiomyopathy occurred in the absence of major cardiovascular risk factors or coronary heart disease.…”

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confidence: 99%