Familial endemic persistent atrial standstill in a small mountain community: review of eight cases

Abstract

Familial persistent atrial standstill (PAS) has been rarely documented. Five patients, three male and two female (mean age 46 years at first observation), with familial 'complete' PAS, all from a small mountain community (900 residents) have been studied. Diagnostic criteria were: absence of P wave in any lead of the standard electrocardiogram; no electrical activity of the atria with extremely slow junctional escape rhythm on the endocavitary recordings; lack of atrial excitability; absence of atrial wall movement at fluoroscopy; no mitral A wave on the echocardiogram. All patients had marked cardiac enlargement primarily due to atrial enlargement and all had impaired functional class. Some had bradycardia for many years but none had syncope. Permanent cardiac pacing was carried out in all. Two had cerebral embolism. In the same community there were three patients, one male and two female (mean age 34 years at first observation), with 'partial' atrial standstill characterized by absence of P waves in any lead of the standard electrocardiogram and by endocavitary recording of electrical activity limited to a localized region of the atrium. These three patients also had cardiac enlargement primarily due to atrial enlargement but to a lesser degree than the patients with complete PAS. One patient had cerebral embolism. The familial and endemic character of the disease is stressed. Cardiac enlargement due primarily to atrial enlargement seems to be a common feature of both the complete and partial form of the PAS syndrome.

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

“…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.…”

“…Although the mode of transmission of AS is unknown, some previous reports of familial AS could be suggestive of a recessive mode of transmission, 10 where consanguinity may have played a role. Within the family presented (Figure 1), there was no evidence of consanguinity.…”

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

“…Complete AS was defined as absence of atrial electric activity on surface ECG, with junctional bradycardia, absence of atrial activity in endocavitary recordings, no response to stimulation during electrophysiological study, and absence of A wave by echocardiography. 9,14 Partial AS was defined as absence of atrial electric activity on surface ECG, but with still irregular junctional rhythm and only localized absence of endocavitary atrial activity and no response to stimulation. Carto electroanatomic mapping was performed in 5 patients (Biosense-Welbster, Diamond Bar, CA): the areas displaying electric atrial activity <0.05 mV at bipolar mapping were considered scars.…”

The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery

“…6,7 Atrial standstill is a pathognomonic finding, 8 with a lack of atrial response to intracardiac electrical or mechanical stimulation. 9 Cardiomyopathy with poor left ventricular function occurs less commonly. The degree of cardiac involvement does not correlate with the degree of skeletal muscle involvement.…”