Cardiac involvement in the Kugelberg-Welander syndrome

Tanaka, Hiromitsu; Uemura, Nobuhiro; Toyama, Yoshifumi; Kudō, Akira; Ohkatsu, Yohsuke; Kanehisa, Takuya

doi:10.1016/0002-9149(76)90473-2

Cited by 28 publications

(28 citation statements)

References 19 publications

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“…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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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%

Cardiac pathology in spinal muscular atrophy: a systematic review

Wijngaarde

Blank

Stam

et al. 2017

Orphanet J Rare Dis

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“…Contrary to most reports, Coletta et al [5]found an abnormal ECG in all of their 13 patients with SMA, whereas echocardiography was normal in all of them. Tanaka et al [12]investigated 2 SMA patients and reported atrial flutter with AV block III and an enlarged left atrium in 1 of them. The other patient presented with AV junctional rhythm, deep Q waves and an RS pattern.…”

Section: Discussionmentioning

confidence: 99%

“…CI can be most often observed in myopathies (muscular dystrophies, metabolic myopathies, congenital myopathies) [3]. Among neuropathies, CI has only been reported in bulbospinal muscular atrophy [4]and spinal muscular atrophy (SMA) [5, 6, 7, 8, 9, 10, 11, 12]. Despite the increasing interest in CI in neuromuscular disorders, only few data are available on CI in SMA.…”

Section: Introductionmentioning

confidence: 99%

Cardiac Involvement in Werdnig-Hoffmann’s Spinal Muscular At rophy

Finsterer

Stöllberger

1999

Cardiology

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Despite the increasing interest in cardiac involvement (CI) of neuromuscular disorders, only few data are available on CI in spinal muscular atrophy (SMA). We tried to determine the cardiac manifestations of SMA, their incidence rates and the necessity of cardiac therapy in patients with SMA and CI. Eight patients with SMA, aged 10–79 years, underwent clinical cardiologic examination, ECG, echocardiography and ambulatory ECG. The most frequent findings were angina pectoris, palpitations, exertional dyspnea, ST abnormalities, couplets, thickened myocardium and diastolic dysfunction. In conclusion, cardiac manifestations of SMA mainly comprise ECG abnormalities and thickened myocardium. CI in SMA frequently necessitates cardiac therapy.

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“…The presence of heart alterations have been reported in the most severe forms of SMA; caused either by congenital anomalies manifesting during cardiogenesis [117-121], or secondary to autonomic nervous system defects [122-127]. Many authors suggest that in juvenile cases of SMA, in particular for SMA types I and II, the presence of cardiac involvement is likely secondary to chronic respiratory insufficiency, which is a common feature of the disease.…”

Section: Other Cell Types Outside the Central Nervous System Involmentioning

confidence: 99%

“…Many authors suggest that in juvenile cases of SMA, in particular for SMA types I and II, the presence of cardiac involvement is likely secondary to chronic respiratory insufficiency, which is a common feature of the disease. Investigators hypothesized that ventricular arrhythmia, bundle-branch and atrioventricular blocks are provoked by pulmonary and respiratory defects, highlighting the importance of respiratory assistance in preventing the onset of cardiological alterations [128,118,126,119,127,121] (Table 1). While previous clinical reports of SMA I patients did not explicitly determine if the cardiac defects were secondary to respiratory distress; recently, however, congenital heart anomalies are being described more frequently upon autopsy and include: dilated right ventricle, atrial and ventricular septal defects.…”

Section: Other Cell Types Outside the Central Nervous System Involmentioning

confidence: 99%

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

Simone

Ramirez

Bucchia

et al. 2015

Cell. Mol. Life Sci.

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Spinal Muscular Atrophy (SMA) is a genetic neurological disease that causes infant mortality; no effective therapies are currently available. SMA is due to homozygous mutations and/or deletions in the Survival Motor Neuron 1 (SMN1) gene and subsequent reduction of the SMN protein, leading to the death of motor neurons. However, there is increasing evidence that in addition to motor neurons, other cell types are contributing to SMA pathology. In this review, we will discuss the involvement of non-motor neuronal cells, located both inside and outside the central nervous system, in disease onset and progression. These contribution of non-motor neuronal cells to disease pathogenesis has important therapeutic implications: in fact, even if SMN restoration in motor neurons is needed, it has been shown that optimal phenotypic amelioration in animal models of SMA requires a more widespread SMN correction. It will be crucial to take this evidence into account before clinical translation of the novel therapeutic approaches that are currently under development.

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Cardiac involvement in the Kugelberg-Welander syndrome

Cited by 28 publications

References 19 publications

Cardiac pathology in spinal muscular atrophy: a systematic review

Cardiac pathology in spinal muscular atrophy: a systematic review

Cardiac Involvement in Werdnig-Hoffmann’s Spinal Muscular At rophy

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

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