Familial Heart Disease

Tsagaris, Theofilos J.; Bustamante, R; Friesendorff, R.A.

doi:10.1378/chest.52.2.153

Cited by 21 publications

(7 citation statements)

References 17 publications

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“…Fifty-nine different NKX2-5 mutations were reported and confirmed in 202 patients in 31 papers. 2,18,19,[51][52][53][54][55][56] Thus, including the mutation we identified in six Danish individuals, a total of 60 NKX2-5 mutations have been identified in 208 patients.…”

Section: Review Of Published Nkx2-5 Mutationsmentioning

confidence: 96%

“…As opposed to the adult‐onset type, congenital complete atrioventricular block is diagnosed in utero or shortly after birth, and it is associated with mortality rates ranging from 33% to 80% if the heart rate is below 50 or it co‐occurs with structural heart disease . Conversely, the adult‐onset type of familial atrioventricular block is of a progressive nature, and there are several reports of patients with normal ECG or a harmless first‐degree atrioventricular block followed by sudden onset of second‐ and third‐degree atrioventricular block or sudden death later in life …”

Section: Introductionmentioning

confidence: 99%

“…17,18 Conversely, the adult-onset type of familial atrioventricular block is of a progressive nature, and there are several reports of patients with normal ECG or a harmless first-degree atrioventricular block followed by sudden onset of second-and third-degree atrioventricular block or sudden death later in life. 14,15,19 Sudden cardiac death (SCD) occur in patients with both types of atrioventricular block 15,16,20,21 and in patients with NKX2-5 mutations. 22,23 SCD have been reported in pediatric as well as adult cases of atrioventricular block, 15,16,20,21 and autopsy studies have shown fibrotic replacement of the AVbundle, 24 which explains the atrioventricular node malfunctioning in these patients.…”

Section: Introductionmentioning

confidence: 99%

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Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature

Ellesøe

Johansen

Bjerre

et al. 2015

Congenital Heart Disease

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ObjectiveAtrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. Mutations in the NKX2‐5 gene, located on chromosome 5, are associated with ASD, often combined with conduction disturbances, cardiomyopathies, complex CHD, and sudden cardiac death as well. Here, we show that NKX2‐5 mutations primarily occur in ASD patients with conduction disturbances and heritable ASD. Furthermore, these families are at increased risk of sudden cardiac death.ResultsWe screened 39 probands with familial CHD for mutations in NKX2‐5 and discovered a novel mutation in one family (2.5%) with ASD and atrioventricular block. A review of the literature revealed 59 different NKX2‐5 mutations in 202 patients. Mutations were significantly more common in familial cases compared to nonfamilial cases (P = 7.1 × 10−9). The majority of patients (74%) had ASD with conduction disturbance. Nineteen patients (15%) of 120 with familial ASD and conduction disturbance died from sudden cardiac death of which nine (8%) were confirmed mutation carriers, and 10 were possible carriers.Conclusions NKX2‐5 mutations mainly occur in familial CHD, the signature phenotype is ASD with conduction disturbances and mutation carriers are at increased risk of sudden cardiac death. We suggest that familial ASD patients should be screened for NKX2‐5 mutations and, if they are mutation carriers, implantation of an implantable cardioverter‐defibrillator should be considered in these patients.

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Section: Review Of Published Nkx2-5 Mutationsmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature

Ellesøe

Johansen

Bjerre

et al. 2015

Congenital Heart Disease

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“…Familial cardiomyopathy is an hereditary myocardial disorder often accompanied by cardiac conduction defects [6,10,15,16,30,31] . Predominant manifestations may reflect myocardial dysfunction, tachyarrhythmia, or heart block .…”

Section: Discussionmentioning

confidence: 99%

Progressive cardiac conduction defect and cardiomyopathy in siblings with syncope

et al. 1982

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Three siblings evaluated for syncope were found to have left bundle-branch block. Progression to complete heart block occurred in all. Pacemaker implantation eliminated syncopal epidoses in each case. Echocardiographic manifestations of cardiomyopathy were present in each child despite normal roentgenographic heart size. Careful family study identified no other affected members with conduction defects. These children area believed to represent a form of familial cardiomyopathy in which clinical manifestations of cardiac conduction system disease predominate.

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“…Involvement of the conduction system by strands extending into the atrioventricular node and the right branch of the bundle has been reported in a case of the adult variety [6], On the other hand, autopsies of infants with familial congenital AVB suggest complete absence of the His bundle or of one of its branches [9][10][11]. The progressive nature of the adult type of the dis ease is more compatible with a gradual fibrosis than with the absence of a main stem of the conduction system.…”

Section: Discussionmentioning

confidence: 99%

Familial Conduction Defects

Vallianos¹,

Sideris²

1974

Cardiology

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In a family of 14, five members presented conduction defects including atrio-ventricular block (2), right bundle branch block (3), and left anterior hemiblock (3). Another sibling who died suddenly at the age of 30, exhibited normal electrocardiograms, whereas no information was available on the remaining two.A review of the literature suggests a familial character of the disease with an autosomal dominant mode of inheritance. It also suggests a progressive widening of the QRS complex with advancing age and the occurrence of left bundle branch block or left anterior hemiblock as precursors of atrio-ventricular block.

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Familial Heart Disease

Cited by 21 publications

References 17 publications

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature

Progressive cardiac conduction defect and cardiomyopathy in siblings with syncope

Familial Conduction Defects

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