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atrial standstill - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial standstill

MONDO:0015281

Also known as:atrial cardiomyopathy with heart block

Overview

Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.

OnsetCHILDHOOD

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: childhood.

GeneReviews

Clinical Guidance

Individuals with the 1q21.1 recurrent deletion (BP3-BP4) have a wide range of clinical manifestations, ranging from unaffected to severely affected. The most common findings include developmental delay and mild but nonspecific dysmorphic facies. There is not a clinically recognizable syndrome, as a subset of persons with the deletion do not have obvious clinical findings. Clinical information from reports involving 102 probands with the 1q21.1 recurrent deletion is summarized in [, , , , ].

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

The breakpoints of the distal 1q21.1 recurrent deletion described in this GeneReview are between BP3 and BP4 ; these are sometimes referred to as class I deletions. Because of the variability of the phenotypic features, the diagnosis of the 1q21.1 recurrent deletion is often made following chromosomal microarray analysis (CMA) or through genomic testing, such as exome analysis.

Suggestive Findings

The 1q21.1 recurrent deletion should be considered in probands with the following clinical features:

Source: GeneReviews —

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for atrial standstill. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for the 1q21.1 recurrent deletion have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 1q21.1 recurrent deletion, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis of the 1q21.1 Recurrent Deletion

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 5.

Recommended Surveillance in Individuals with the 1q21 Recurrent Deletion

System/Concern | Evaluation | Frequency

Growth

| Measurement of growth parameters | At each visit

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atrial standstill.

22 publications have been identified in PubMed for atrial standstill. Research spans Case Report / Case Series (73%), Review / Meta-Analysis (14%), and Other (5%).

Research Type	Count	% of Total
Patient case studies	16	73%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1344

GARD

Genetic and Rare Diseases Info Center

GARD:16564

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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System/Concern	Evaluation	Comment
Constitutional	Measurement of weight, length, head circumference	To assess for growth restriction /or microcephaly
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Eyes	Ophthalmologic eval	To assess for best corrected visual acuity, strabismus, more complex findings (e.g., cataract, colobomas, Duane anomaly) that may require referral for subspecialty care Neurobehavioral/
Psychiatric	Neuropsychiatric eval	For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Cardiac	Cardiac eval, which may incl echocardiogram EKG	To assess for structural cardiac anomalies aortic root size, rhythm abnormalities
Neurologic	Neurologic eval	Consider brain MRI for those w/microcephaly, macrocephaly, or seizures.; Consider EEG if seizures are a concern.; Consider referral to neurologist for those w/hypotonia, seizures, tics, or tremors.
Genitourinary	Renal ultrasound	To assess for renal anomalies Physical exam
Gastrointestinal	Gastrointestinal eval	To assess for constipation, dysphagia, gastroesophageal reflux, gastroparesis
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Clubfoot scoliosis; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Hearing	Audiologic eval	To assess for hearing loss
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of the 1q21 recurrent deletion to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy 1.
Treatment of Manifestations in Individuals with the 1q21.1 Recurrent Deletion Manifestation/Concern	Treatment	Considerations/Other Poor growth/ Feeding difficulty
GERD	Standard treatment per gastroenterologist	Aripiprazole improved gastroparesis in 1 person.1 Developmental delay/
Intellectual disability	See .	Eye anomalies/
Refractive error	Ophthalmologist	Refractive errors, strabismus Ophthalmic subspecialist
Arrhythmias	Standard treatment per cardiologist	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers2
Tremors/Tics	Standard treatment per neurologist	—
Hernia/Cryptorchidism	Standard treatment per urologist	—
Clubfoot/Scoliosis	Standard treatment per orthopedist	—
Hearing	Hearing aids may be helpful per otolaryngologist	Community hearing services through early intervention or school district
Family/Community	Ensure appropriate social work involvement to connect families w/local resources support.	Consider involvement in adaptive sports or Special Olympics. ASM = anti-seizure medication; GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy 1. 2.

Kisho

atrial standstill

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Development

Psychiatric

Neurologic

Musculoskeletal

Family/Community

Hearing

Recent Publications

atrial standstill

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Development

Psychiatric

Neurologic

Musculoskeletal

Family/Community

Hearing

Recent Publications