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Left ventricular outflow tract obstructions: should cardiac screening be offered to first-degree relatives?
  1. Wilhelmina S Kerstjens-Frederikse1,
  2. Gideon J Du Marchie Sarvaas2,
  3. Jolien S Ruiter1,
  4. Peter C Van Den Akker1,
  5. Arno M Temmerman2,
  6. Joost P Van Melle2,
  7. Robert M W Hofstra1,
  8. Rolf M F Berger2
  1. 1Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands
  2. 2Centre for Congenital Heart Diseases, University Medical Centre Groningen, University of Groningen, The Netherlands
  1. Correspondence to Dr Wilhelmina S Kerstjens-Frederikse, Department of Genetics, University Medical Centre Groningen, Postbox 30.001, 9700 RB Groningen, The Netherlands; w.s.kerstjens{at}


Objectives To determine whether offering cardiac screening to relatives of patients with left ventricular outflow tract obstructions (LVOTOs) would be justified.

Background LVOTOs have been recognised as a group of congenital heart diseases with ‘high heritability’. One of the LVOTOs, the bicuspid aortic valve, is often asymptomatic, but has become known to be associated with sudden, unexpected cardiac death. However, the need for cardiac screening of first-degree relatives of patients with LVOTO has not been determined owing to the lack of studies in well-defined cohorts of consecutive patients.

Methods The families of a cohort of 249 consecutive paediatric patients with LVOTO were offered genetic counselling. Of 182 consenting index patients, 40 patients (22%) appeared to have associated non-cardiac congenital anomalies (LVOTO-NCA). In the other 142 patients with LVOTO, cardiac screening of 449 first-degree relatives was performed.

Results Cardiac screening disclosed a cardiac anomaly in 34 first-degree relatives (8%). In 23 (68%) of these the cardiac anomaly was a bicuspid aortic valve. Twenty-four of these anomalies were newly detected by our screening programme (71%). These 34 cardiac anomalies were found in the families of 28 index cases (20%).

Conclusions This study shows that of the patients with LVOTO without NCA, 20% had (an) affected first-degree relative(s), frequently with undetected bicuspid aortic valves. These data suggest that cardiac screening of relatives of patients with LVOTO without NCA is justified. This may help prevent sudden, unexpected, cardiac death or life-threatening complications in relatives with undetected bicuspid aortic valves.

  • Congenital heart defects
  • aortic valve
  • aortic coarctation
  • hypoplastic left heart syndrome
  • genetics
  • dissection
  • sudden cardiac death, paediatric cardiology
  • genetics
  • aortic valve disease

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  • Competing interests None.

  • Ethics approval Ethics Approval from the UMCG ethics committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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