chronic atrial and intestinal dysrhythmia

Chronic atrial and intestinal dysrhythmia is a multisystem condition that primarily affects the heart and the intestines, manifesting as a combination of atrial arrhythmias and intestinal pseudo-obstruction. It is caused by mutations in the SGO1 gene leading to a dysfunctional SGOL1 protein, which plays a crucial role in cellular processes. This condition typically presents in early life, with affected individuals experiencing significant challenges related to both cardiac rhythm and gastrointestinal motility. It is very rare, occurring in fewer than 1 in a million people.

The clinical presentation of chronic atrial and intestinal dysrhythmia is defined by a consistent pattern of features. Characteristic findings include chronic intestinal pseudo-obstruction, bradycardia, and sick sinus syndrome, along with failure to thrive and decreased body weight, all of which are reported in every affected individual. Some patients may also develop additional cardiac manifestations such as left atrial enlargement, bicuspid aortic valve, mitral regurgitation, pulmonic stenosis, ventricular escape rhythm, atrial fibrillation, or atrial flutter. Not all individuals experience every feature, and severity varies considerably.

Chronic atrial and intestinal dysrhythmia is caused by pathogenic variants in the SGO1 gene. The mutated SGOL1 protein resulting from these variants disrupts normal cellular functions, leading to the combined cardiac and gastrointestinal manifestations observed in this syndrome. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual has received one mutated copy of the gene from each parent. It is more common when parents share a common ancestor, as the likelihood that both carry the same rare genetic variant increases, and each pregnancy has a 25% recurrence risk if both parents are carriers. Genetic counseling is highly recommended for families to understand these implications and to discuss family planning options.

Currently, management of chronic atrial and intestinal dysrhythmia focuses on supportive care and symptom management, as there are no foundational therapies or FDA-approved treatments specifically linked to this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to address both the cardiac and gastrointestinal symptoms. Regular surveillance, such as periodic cardiac evaluations and monitoring of growth and nutritional status, is an essential component of long-term care. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to help families navigate the implications of the inherited condition.

The long-term outlook for individuals with chronic atrial and intestinal dysrhythmia is variable, with outcomes depending on factors such as symptom severity, age at diagnosis, and access to multidisciplinary care. With current standards of care, many individuals are able to manage symptoms effectively, although challenges such as ongoing cardiac arrhythmias and gastrointestinal complications may persist. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition as well as genetic counselors to gain further guidance on management and family planning.

Clinical trials are underway exploring new treatment approaches for chronic atrial and intestinal dysrhythmia. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.