Characteristics and natural history of abnormal atrial rhythms in left isomerism

Momma, Kazuo; Takao, Atsuyoshi; Shibata, Toshimitsu

doi:10.1016/0002-9149(90)90090-n

Cited by 63 publications

(37 citation statements)

References 10 publications

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“…20 Histological studies in hearts with left atrial isomerism demonstrate absence, hypoplasia and/or ectopic location of nodal tissue in a large proportion of patients. 21,22 In correspondence with these histological abnormalities, abnormal atrial rhythms are commonly found in patients with left atrial isomerism, 10,23 and a low atrial rhythm with a superior P-wave frontal axis is frequently present. 10,23 In this family, four of the five individuals with CHD or isolated LSVC had low atrial rhythm, and one individual had a horizontal P-wave axis.…”

Section: Discussionmentioning

confidence: 99%

“…This can be present due to sinus node dysfunction in patients with left atrial isomerism, a laterality disorder characterized by bilateral left sidedness. 9,10 Here, we describe a large four-generation family with an autosomal dominant condition, comprising various types of CHD and low atrial rhythm, a unique phenotype not described before within a family. A genome-wide linkage analysis yielded linkage to a region of 39 Mb on chromosome 9q with a maximum LOD score of 4.1.…”

Section: Introductionmentioning

confidence: 95%

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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

et al. 2011

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Congenital heart defects (CHDs) occur mostly sporadic, but familial CHD cases have been reported. Mutations in several genes, including NKX2.5, GATA4 and NOTCH1, were identified in families and patients with CHD, but the mechanisms underlying CHD are largely unknown. We performed genome-wide linkage analysis in a large four-generation family with autosomal dominant CHD (including atrial septal defect type I and II, tetralogy of Fallot and persistent left superior vena cava) and low atrial rhythm, a unique phenotype that has not been described before. We obtained phenotypic information including electrocardiography, echocardiography and DNA of 23 family members. Genome-wide linkage analysis on 12 affected, 5 unaffected individuals and 1 obligate carrier demonstrated significant linkage only to chromosome 9q21-33 with a multipoint maximum LOD score of 4.1 at marker D9S1690, between markers D9S167 and D9S1682. This 48-cM critical interval corresponds to 39 Mb and contains 402 genes. Sequence analysis of nine candidate genes in this region (INVS, TMOD1, TGFBR1, KLF4, IPPK, BARX1, PTCH1, MEGF9 and S1PR3) revealed no mutations, nor were genomic imbalances detected using array comparative genomic hybridization. In conclusion, we describe a large family with CHD and low atrial rhythm with a significant LOD score to chromosome 9q. The phenotype is representative of a mild form of left atrial isomerism or a developmental defect of the sinus node and surrounding tissue. Because the mechanisms underlying CHD are largely unknown, this study represents an important step towards the discovery of genes implied in cardiogenesis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

et al. 2011

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“…24 In contrast, most hearts with left atrial isomerism do not have a histologically recognizable sinus node, with consonant slow atrial or junctional escape rates. 25 The AV conduction system may be displaced, particularly in hearts with AV discordance and AV canal defects. In L-looped single ventricles, the elongated course of the common bundle renders it susceptible to complete AV block.…”

Section: Diagnostic Evaluation Electrocardiogramsmentioning

confidence: 99%

Univentricular Heart

2007

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Abstract-As early as 1699, Chemineau described a heart composed of 2 auricles but only 1 ventricle. 1 The univentricular heart has since fascinated the medical community. Unique in its complexity and scope, the univentricular heart has sparked intense debates about embryology and nomenclature, challenged our understanding of cardiovascular physiology and hemodynamics, and inspired some of the most creative surgical and interventional approaches in human history. The present report provides an overview of the nomenclature and classification of the univentricular heart, epidemiology and pathological subtypes, genetic factors, physiology, clinical features, diagnostic assessment, therapy, and postoperative sequelae. Although the present report touches on issues applicable to neonates and children with univentricular hearts, the focus is on information of interest and relevance to the adult cardiologist. (Circulation. 2007; 115:800-812.)

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“…6 In contrast, in left atrial isomerism, sinus nodes are either absent or hypoplastic and posteroinferiorly displaced, far from the superior vena cava orifice. 5,7 As a result, slow atrial rates and junctional escape rhythms are common. 7 …”

Section: Heterotaxy Syndromesmentioning

confidence: 99%