Screening of families of patients with left-sided cardiovascular anomalies

Fikri Demir, Cem Karadeniz, Semra Atalay, Mustafa Tekin, Ercan Tutar

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Background: There is increasing evidence of clustering of certain cardiac anomalies in some families. The frequency and echocardiographic features of such anomalies among the relatives of patients with bicuspid aortic valve (BAV) or other left-sided cardiovascular anomalies (LSCA) were evaluated. Methods: The patients with BAV or any other LSCA and their relatives were enrolled in the study. They underwent an echocardiographic examination. The probands were assessed in three groups: BAV, BAV + coarctation of aorta (CoA), and other LSCA. Their relatives were also grouped and evaluated accordingly. The echocardiographic measurements were standardized by Z-scores. Results: Eighty-six probands and 261 relatives were evaluated. The numbers of the patients in the BAV, BAV + CoA, and other LSCA group were 52, 14, and 20, respectively. Any LSCA was determined in 17 (6.5%) of the relatives. Thirteen (5%) had aortic dilatation and the remainder (1.5%) had BAV. Accordingly, BAV incidence among relatives of patients with BAV was found to be 1.9%. A second individual with an LSCA was observed in 12.8% of 86 families investigated. The frequencies of aortic stenosis, aortic regurgitation, aortic stenosis + aortic regurgitation, and aortic dilatation in the patients with BAV were found to be 37.9%, 53%, 25.8% and 48.5%, respectively. In contrast to previous reports, no enlargement was observed in the pulmonary arteries of BAV patients. Conclusions: BAV and other LSCA are of clinical significance. Because the clustering of LSCA in some families is observed, we recommend echocardiographic screening of those relatives. If this is not possible, at least it should be achieved for BAV patients.

Original languageEnglish (US)
Pages (from-to)555-560
Number of pages6
JournalPediatrics International
Issue number5
StatePublished - Oct 2013
Externally publishedYes


  • bicuspid aortic valve
  • echocardiographic screening
  • familial
  • left-sided cardiovascular anomalies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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