Familial atrial standstill caused by amyloidosis.

Maeda, Shuichiro; Tanaka, Toshihide; Hayashi, Tatsumi

doi:10.1136/hrt.59.4.498

Cited by 28 publications

(14 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the literature, there are genetically orphan, sporadic, and familial cases that look phenotypically similar to our cases. The Indian case described by Sajeev et al 10 was adult-onset and showed same phonotypical traits observed in our patients as the 2 Australian patients reported by Sanders et al, 11 whereas 3 Japanese siblings with isolated atrial amyloidosis described by Maeda et al 16 suggest a recessive inheritance and the possible contribution of atrial amyloid deposits to the pathological substrates of the AD and AS. The possibility exists that in cases with isolated atrial amyloidosis, amyloid fibrils display either atrial or probrain natriuretic peptide immunoreactivity, as we have shown in atria of human failing hearts, 40 thus suggesting amyloid to be secondary to a primary disease that causes AD and AS.…”

Section: Epidemiology Of Adcmsupporting

confidence: 56%

Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

Disertori

Quintarelli

Grasso

et al. 2013

Circ Cardiovasc Genet

View full text Add to dashboard Cite

Background— Atrial dilatation and atrial standstill are etiologically heterogeneous phenotypes with poorly defined nosology. In 1983, we described 8-years follow-up of atrial dilatation with standstill evolution in 8 patients from 3 families. We later identified 5 additional patients with identical phenotypes: 1 member of the largest original family and 4 unrelated to the 3 original families. All families are from the same geographic area in Northeast Italy. Methods and Results— We followed up the 13 patients for up to 37 years, extended the clinical investigation and monitoring to living relatives, and investigated the genetic basis of the disease. The disease was characterized by: (1) clinical onset in adulthood; (2) biatrial dilatation up to giant size; (3) early supraventricular arrhythmias with progressive loss of atrial electric activity to atrial standstill; (4) thromboembolic complications; and (5) stable, normal left ventricular function and New York Heart Association functional class during the long-term course of the disease. By linkage analysis, we mapped a locus at 1p36.22 containing the Natriuretic Peptide Precursor A gene. By sequencing Natriuretic Peptide Precursor A , we identified a homozygous missense mutation (p.Arg150Gln) in all living affected individuals of the 6 families. All patients showed low serum levels of atrial natriuretic peptide. Heterozygous mutation carriers were healthy and demonstrated normal levels of atrial natriuretic peptide. Conclusions— Autosomal recessive atrial dilated cardiomyopathy is a rare disease associated with homozygous mutation of the Natriuretic Peptide Precursor A gene and characterized by extreme atrial dilatation with standstill evolution, thromboembolic risk, preserved left ventricular function, and severely decreased levels of atrial natriuretic peptide.

show abstract

Section: Epidemiology Of Adcmsupporting

confidence: 56%

Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

Disertori

Quintarelli

Grasso

et al. 2013

Circ Cardiovasc Genet

View full text Add to dashboard Cite

show abstract

“…The progressive nature of the disease has been reported previously. In some families without evidence of underlying disease, symptoms were first noted as early as age 1 to 3.5 years 6,9 or in mid-teens, 1,8 whereas in other families the onset of the disease was in the late twenties or thirties, 7,10 as is the case in the family reported here.…”

Section: Comparison With Other As Familiessupporting

confidence: 51%

A Cardiac Sodium Channel Mutation Cosegregates With a Rare Connexin40 Genotype in Familial Atrial Standstill

Groenewegen

Firouzi

Bezzina

et al. 2003

Circulation Research

259

221

View full text Add to dashboard Cite

Abstract-Atrial standstill (AS) is a rare arrhythmia that occasionally appears to be genetically determined. This study investigates the genetic background of this arrhythmogenic disorder in a large family. Forty-four family members were clinically evaluated. One deceased and three living relatives were unambiguously affected by AS. All other relatives appeared unaffected. Candidate gene screening revealed a novel mutation in the cardiac sodium channel gene SCN5A (D1275N) in all three affected living relatives and in five unaffected relatives, and the deceased relative was an obligate carrier. In addition, two closely linked polymorphisms were detected within regulatory regions of the gene for the atrial-specific gap junction protein connexin40 (Cx40) at nucleotides Ϫ44 (G3 A) and ϩ71 (A3 G). Eight relatives were homozygous for both polymorphisms, which occurred in only Ϸ7% of control subjects, and three of these relatives were affected by AS. The three living AS patients exclusively coinherited both the rare Cx40 genotype and the SCN5A-D1275N mutation. SCN5A-D1275N channels showed a small depolarizing shift in activation compared with wild-type channels. Rare Cx40 genotype reporter gene analysis showed a reduction in reporter gene expression compared with the more common Cx40 genotype. In this study, familial AS was associated with the concurrence of a cardiac sodium channel mutation and rare polymorphisms in the atrial-specific Cx40 gene. We propose that, although the functional effect of each genetic change is relatively benign, the combined effect of genetic changes eventually progresses to total AS. (Circ Res. 2003;92:14-22.)

show abstract

“…The deposition into the atrial walls is extensive and in rare cases can cause mechanical failure and conduction standstill. 50,51 Endocardial deposition may cause valvular insufficiency and worsen CHF. In rare cases, pericardial involvement occurs with high-grade disease and can lead to constrictive physiologic findings 48 and pulmonary amyloid infiltration causing pulmonary hypertension and cor-pulmonale.…”

Section: Pathophysiology Of Cardiac Amyloidosismentioning

confidence: 99%

Cardiac Amyloidosis

Desai

Aronow²,

Peterson³

et al. 2010

Cardiology in Review

View full text Add to dashboard Cite

Amyloidosis is a clinical disorder caused by the extracellular deposition of misfolded, insoluble aggregated protein with a characteristic ss pleated sheet configuration that produces apple-green birefringence under polarized light when stained with Congo red dye. The spectrum of organ involvement can include the kidneys, heart, blood vessels, central and peripheral nervous systems, liver, intestines, lungs, eyes, skin, and bones. Cardiovascular amyloidosis can be primary, a part of systemic amyloidosis, or the result of chronic systemic disease elsewhere in the body. The most common presentations are congestive heart failure because of restrictive cardiomyopathy and conduction abnormalities. Recent developments in imaging techniques and extracardiac tissue sampling have minimized the need for invasive endomyocardial biopsy for amyloidosis. Cardiac amyloidosis management will vary depending on the subtype but consists of supportive treatment of cardiac related symptoms and reducing the amyloid fibrils formation attacking the underlying disease. Despite advances in treatment, the prognosis for patients with amyloidosis is still poor and depends on the underlying disease type. Early diagnosis of cardiac amyloidosis may improve outcomes but requires heightened suspicion and a systematic clinical approach to evaluation. Delays in diagnosis, uncertainties about the relative merits of available therapies, and difficulties in mounting large-scale clinical trials in rare disorders combine to keep cardiac amyloidosis a challenging problem. This review outlines current approaches to diagnosis, assessment of disease severity, and treatment of cardiac amyloidosis.

show abstract

Familial atrial standstill caused by amyloidosis.

Cited by 28 publications

References 13 publications

Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

A Cardiac Sodium Channel Mutation Cosegregates With a Rare Connexin40 Genotype in Familial Atrial Standstill

Cardiac Amyloidosis

Contact Info

Product

Resources

About