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Familial sick sinus syndrome with atrioventricular conduction disturbance
1First Department of Internal Medicine, Shinshu University, School of Medicine, Matsumoto, Japan.
Insights
A family presented with sick sinus syndrome, a condition affecting heart rhythm. Electrophysiological studies and pacemaker implantation revealed underlying myocardial disease in affected members.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Sick sinus syndrome (SSS) is a group of abnormalities of the sinus node, the heart's natural pacemaker.
- Familial clustering of SSS suggests a potential genetic component in its etiology.
- Understanding the underlying pathology is crucial for effective management.
Observation:
- A mother and her two daughters were diagnosed with sinus node dysfunction.
- Electrophysiological studies in the daughters indicated abnormal atrioventricular conduction.
- Endomyocardial biopsy in one daughter revealed myocyte disarrangement, degeneration, necrosis, and fibrosis.
Findings:
- The family members presented with symptomatic sinus node dysfunction requiring pacemaker implantation.
- Histopathological findings from endomyocardial biopsy suggest an underlying myocardial disease contributing to SSS.
- Abnormal atrioventricular conduction was observed in the affected daughters.
Implications:
- This case highlights a potential inherited form of sick sinus syndrome possibly linked to myocardial disease.
- Early diagnosis and pacemaker implantation are vital for managing symptomatic SSS.
- Further research into the genetic and pathological basis of familial SSS is warranted.
Abstract:
A family with sick sinus syndrome is presented: a mother and her 2 daughters affected with sinus node dysfunction. Electrophysiological studies revealed abnormal atrioventricular conduction in the 2 daughters. All 3 individuals were implanted with a permanent pacemaker to relieve their symptoms. Endomyocardial biopsy from the right ventricle of one daughter showed disarrangement, degeneration, myocyte necrosis and interstitial fibrosis suggestive of myocardial disease.