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Familial Aggregation of Aortic Valvular Stenosis: A Nationwide Study of Sibling Risk

Andreas Martinsson1, Xinjun Li2, Bengt Zöller2

  • 1From the Department of Cardiology, Clinical Sciences (A.M., P.A., J.G.S.) and Center for Primary Health Care Research (X.L., B.Z., K.S.), Lund University, Sweden; Skåne University Hospital, Lund, Sweden (A.M., P.A., J.G.S.); Department of Cardiology, Copenhagen University Hospital Gentofte, Hellerup, Denmark (C.A.); and Department of Family Medicine and Community Health and Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY (K.S.). andreas.martinsson@med.lu.se.

Circulation. Cardiovascular Genetics
|December 16, 2017
PubMed

Insights

Having a sibling with aortic stenosis (AS) significantly increases your risk of developing this common heart valve condition. Genetic factors appear to play a larger role than shared environmental influences.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Epidemiology

Background:

  • Aortic stenosis (AS) is the leading cause for heart valve replacement surgery.
  • The primary cause of AS has shifted from rheumatic heart disease to degenerative calcification in developed nations.
  • While a familial link is known for bicuspid valve AS, overall familial aggregation data is limited.

Purpose of the Study:

  • To investigate the familial aggregation of aortic stenosis (AS).
  • To determine the risk of developing AS based on family history, specifically sibling and spousal relationships.

Main Methods:

  • Utilized data from the Swedish Multi-Generation Register and National Patient Register.
  • Analyzed records of 6,117,263 Swedish siblings, identifying 13,442 with a clinical diagnosis of AS.
  • Employed adjusted models to calculate hazard ratios for AS diagnosis based on sibling and spousal history.

Main Results:

  • Approximately 4.8% of AS cases had a sibling with a history of AS.
  • Having at least one sibling with AS increased the risk of diagnosis by a hazard ratio of 3.41.
  • Individuals with multiple siblings diagnosed with AS showed a significantly higher risk (hazard ratio 32.84), though this was rare.
  • Spouses of AS patients had only a modest increase in AS risk (hazard ratios 1.16-1.18).

Conclusions:

  • A family history of clinically diagnosed AS, particularly among siblings, is associated with an elevated risk of developing the condition.
  • The limited risk increase observed in spouses suggests that genetic factors are more influential in AS development than shared adult environmental factors.
Abstract

Keywords:
aortic valve stenosisrisksiblingsvalvular heart diseases

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