Literature DB >> 1318983

[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet].

H Reichenbach1, E M Meister, H Theile.   

Abstract

A male infant was born at the 36th week of gestation by cesarean section because of an intrauterine bradycardy. There was a 2nd degree a. v.-bloc postnatal. The heart rate was normal after the 5th day of life with a QT-interval of 150 percent resp. 120 percent after the 15th day. Additionally there were syndactylies of hands and feet. The infant suddenly died at the age of 5 months. Examination of the parents revealed a QT-interval of 115 percent as well as synostoses of the carpus in the father. These microsymptoms are very important for genetic counseling of the family. There is a recurrence risk of 50 percent for further children because a dominant trait is to be suggested.

Entities:  

Mesh:

Year:  1992        PMID: 1318983

Source DB:  PubMed          Journal:  Kinderarztl Prax        ISSN: 0023-1495


  19 in total

1.  Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Authors:  Xiuhua Bozarth; Jennifer N Dines; Qian Cong; Ghayda M Mirzaa; Kimberly Foss; J Lawrence Merritt; Jenny Thies; Heather C Mefford; Edward Novotny
Journal:  Am J Med Genet A       Date:  2018-12-04       Impact factor: 2.802

Review 2.  Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Authors:  John R Giudicessi; Michael J Ackerman
Journal:  Circ Arrhythm Electrophysiol       Date:  2016-07

Review 3.  Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.

Authors:  Carlo Napolitano; Charles Antzelevitch
Journal:  Circ Res       Date:  2011-03-04       Impact factor: 17.367

4.  Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.

Authors:  Dan Han; Xiaolin Xue; Yang Yan; Guoliang Li
Journal:  Exp Biol Med (Maywood)       Date:  2019-07-19

5.  Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2).

Authors:  Lucas R Philipp; Fred H Rodriguez
Journal:  Proc (Bayl Univ Med Cent)       Date:  2016-04

6.  Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Authors:  Jane Gillis; Elena Burashnikov; Charles Antzelevitch; Susan Blaser; Gil Gross; Lesley Turner; Riyana Babul-Hirji; David Chitayat
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

7.  Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Authors:  Igor Splawski; Katherine W Timothy; Niels Decher; Pradeep Kumar; Frank B Sachse; Alan H Beggs; Michael C Sanguinetti; Mark T Keating
Journal:  Proc Natl Acad Sci U S A       Date:  2005-04-29       Impact factor: 11.205

8.  Modeling Timothy syndrome with iPS cells.

Authors:  Masayuki Yazawa; Ricardo E Dolmetsch
Journal:  J Cardiovasc Transl Res       Date:  2013-01-09       Impact factor: 4.132

Review 9.  Calcium Signaling and Cardiac Arrhythmias.

Authors:  Andrew P Landstrom; Dobromir Dobrev; Xander H T Wehrens
Journal:  Circ Res       Date:  2017-06-09       Impact factor: 17.367

Review 10.  CaV1.2 channelopathies: from arrhythmias to autism, bipolar disorder, and immunodeficiency.

Authors:  Ping Liao; Tuck Wah Soong
Journal:  Pflugers Arch       Date:  2009-11-15       Impact factor: 3.657

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