Familial idiopathic atrial fibrillation with bradyarrhythmia

Beyer, Frauke; Paul, Timir K.; Luhmer, I; Bertram, Harald; Hc, Kallfelz

doi:10.1007/bf02309847

Cited by 11 publications

(6 citation statements)

References 23 publications

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“…Detailed modeling studies would be necessary to underscore this hypothesis. Considering the broad phenotypic spectrum of arrhythmias associated with familial SND (2,(4)(5)(6)(7), it is likely that additional genes and molecular mechanisms for this "idiopathic" disease will be defined.…”

Section: Discussionmentioning

confidence: 99%

“…In a significant portion of patients, however, SND appears in the absence of identifiable cardiac abnormalities or other associated conditions ("idiopathic" SND) (2). A familial occurrence of idiopathic SND has been reported in some instances (2)(3)(4)(5)(6)(7). These findings and observations from twin studies indicate a role for genetic factors in SND and heart rate control (8,9).…”

Section: Introductionmentioning

confidence: 90%

See 1 more Smart Citation

Pacemaker channel dysfunction in a patient with sinus node disease

Schulze‐Bahr

Neu²,

Friederich³

et al. 2003

J. Clin. Invest.

203

215

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The cardiac pacemaker current I f is a major determinant of diastolic depolarization in sinus nodal cells and has a key role in heartbeat generation. Therefore, we hypothesized that some forms of "idiopathic" sinus node dysfunction (SND) are related to inherited dysfunctions of cardiac pacemaker ion channels. In a candidate gene approach, a heterozygous 1-bp deletion (1631delC) in exon 5 of the human HCN4 gene was detected in a patient with idiopathic SND. The mutant HCN4 protein (HCN4-573X) had a truncated C-terminus and lacked the cyclic nucleotide-binding domain. COS-7 cells transiently transfected with HCN4-573X cDNA indicated normal intracellular trafficking and membrane integration of HCN4-573X subunits. Patch-clamp experiments showed that HCN4-573X channels mediated I f -like currents that were insensitive to increased cellular cAMP levels. Coexpression experiments showed a dominant-negative effect of HCN4-573X subunits on wild-type subunits. These data indicate that the cardiac I f channels are functionally expressed but with altered biophysical properties. Taken together, the clinical, genetic, and in vitro data provide a likely explanation for the patient's sinus bradycardia and the chronotropic incompetence.This article was published online in advance of the print edition. The date of publication is available from the JCI website, http://www.jci.org.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 90%

Pacemaker channel dysfunction in a patient with sinus node disease

Schulze‐Bahr

Neu²,

Friederich³

et al. 2003

J. Clin. Invest.

203

215

View full text Add to dashboard Cite

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“…Physiologic correlations have been demonstrated, the most severe of which is hydrops fetalis (Azancot-Benistry et al, 1992;Frohn-Mulder et al, 1995;Hajdu et al, 1997;Hansmann et al, 1991;Jaeggiet al, 1998;Kleinman et al, 1999;Matta et al, 2010;Naumburg et al, 1997;Reed et al, 1987;Soyeur D, 1996;Szabo et al, 1997;van Engelen et al, 1994;Zielinskyet al, 1998). As discussed above, familial atrial fibrillation has been noted to occur prenatally in the absence of hereditary structural heart disease, and may be indication for referral for high risk obstetrical screening (Aburawi et al, 2006;Bertram et al, 1996;Soyeur, 1996;Tikanoja et al, 1998). As the common pathway of hydrops fetalis is a devastating and often fatal diagnosis, early detection of fetal atrial flutter and other fetal supraventricular tachyarrhythmias is essential to prevention.…”

Section: Atrial Fibrillation In the Fetusmentioning

confidence: 99%

Atrial Fibrillation in Children

Martin¹,

Hagenbuch²

2012

Atrial Fibrillation - Basic Research and Clinical Applications

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“…They describe cases of families whose members had AF or atrial flutter. (Bertram et al, 1996;Bharati et al, 1992;Gillor et al, 1992;Girona et al, 1997;Poret et al, 1996). At the same period was published the results of observing the development of AF in two embryos during the 23 rd and 25 th weeks of antenatal development.…”

Section: Introductionmentioning

confidence: 99%