Atypical arrhythmic complications in familial hypokalemic periodic paralysis

Maffè, Stefano; Signorotti, Fabiana; Perucca, Antonello; Bielli, Massimo; Hladnik, Uroš; Ragazzoni, E; Maduli, E.; Paffoni, Paola; Dellavesa, Pierfranco; Paino, Anna Maria; Zenone, Franco; Parravicini, U; Pardo, Nicolò Franchetti; Cucchi, L; Zanetta, Marco

doi:10.2459/jcm.0b013e3283189564

Cited by 13 publications

(10 citation statements)

References 14 publications

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“…Isolated cases of patients with hyperkalemic periodic paralysis, however, have been reported in association with CCDs and arrhythmias. 113) 114) In fact, CCDs appear to be more common in hypokalemic periodic paralysis than in hyperkalemic periodic paralysis. 115) In single patients with myotonia congenita Becker, pre-excitation syndrome has been reported.…”

Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

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Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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“…The first search yielded 58 articles, of which 11 reported HypoPP patients with cardiac arrhythmias . The second search yielded 720 articles and provided 5 additional HypoPP family or cohort studies with brief reports on cardiac arrhythmia (Fig.…”

Section: Resultsmentioning

confidence: 99%

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

Stunnenberg

Deinum

Links³

et al. 2014

Muscle and Nerve

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It is unknown how often cardiac arrhythmias occur in hypokalemic periodic paralysis (HypoPP) and if they are caused by hypokalemia alone or other factors. This systematic review shows that cardiac arrhythmias were reported in 27 HypoPP patients. Cases were confirmed genetically (13 with an R528H mutation in CACNA1S, 1 an R669H mutation in SCN4A) or had a convincing clinical diagnosis of HypoPP (13 genetically undetermined) if reported prior to the availability of genetic testing. Arrhythmias occurred during severe hypokalemia (11 patients), between attacks at normokalemia (4 patients), were treatment-dependent (2 patients), or unspecified (10 patients). Nine patients died from arrhythmia. Convincing evidence for a pro-arrhythmogenic factor other than hypokalemia is still lacking. The role of cardiac expression of defective skeletal muscle channels in the heart of HypoPP patients remains unclear. Clinicians should be aware of and prevent treatment-induced cardiac arrhythmia in HypoPP.

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“…No function affecting SCN5A variant was found in their families. Although two case studies 5,6 suggested a possible role of SCN4A in cardiac arrhythmogenesis, this association has not yet been documented.…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of muscular sodium channelopathies in the general population has been estimated to be o1/100 000. 4 Except for nonspecific cardiac arrhythmias described in two SCN4A-associated case reports, 5,6 no overlapping phenotypes between muscular and cardiac sodium channelopathies have been reported. Based on a personal observation of a patient with a genetically confirmed SCM and BS (patient A1 in Table 1), we investigated the possible role of SCN4A mutations in the pathophysiology of BS.…”

Section: Introductionmentioning

confidence: 99%

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

et al. 2015

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SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the α-subunit of the skeletal voltage-gated sodium channel (NaV1.4) cause non-dystrophic myotonia and/or periodic paralysis. In this study, we investigated whether cardiac arrhythmias or channelopathies such as Brugada syndrome can be part of the clinical phenotype associated with SCN4A variants and whether patients with Brugada syndrome present with nondystrophic myotonia or periodic paralysis and related gene mutations. We therefore screened seven families with different SCN4A variants and non-dystrophic myotonia phenotypes for Brugada syndrome and performed a neurological, neurophysiological and genetic work-up in 107 Brugada families. In the families with an SCN4A-associated non-dystrophic myotonia, three patients had a clinical diagnosis of Brugada syndrome, whereas we found a remarkably high prevalence of myotonic features involving different genes in the families with Brugada syndrome. One Brugada family carried an SCN4A variant that is predicted to probably affect function, one family suffered from a not genetically confirmed non-dystrophic myotonia, one family was diagnosed with myotonic dystrophy (DMPK gene) and one family had a Thomsen disease myotonia congenita (CLCN1 variant that affects function). Our findings and data suggest a possible involvement of SCN4A variants in the pathophysiological mechanism underlying the development of a spontaneous or drug-induced type 1 electrocardiographic pattern and the occurrence of malignant arrhythmias in some patients with Brugada syndrome.

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Atypical arrhythmic complications in familial hypokalemic periodic paralysis

Cited by 13 publications

References 14 publications

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

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