Living with Sinoatrial node dysfunction and deafness
A rare genetic condition with deafness from birth and a slow heart rate that can cause fainting.
Understanding Sinoatrial node dysfunction and deafness
People are born with severe to profound deafness, with no sign of balance problems. The heart's pacemaker (sinoatrial node) doesn't work well, so the heart rate is slow and varies a lot at rest. Fainting spells can happen, sometimes triggered by physical activity or stress. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe to profound hearing loss
- Slow heartbeat (bradycardia)
- Fainting spells (syncope)
- Heart rate that varies a lot
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in CACNA1D are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the CACNA1D gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sandd; sinoatrial node dysfunction and hearing loss
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sinoatrial node dysfunction and deafness.
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