Table 3

Studies on first-degree relatives of non-syndromic patients with LVOTO

StudiesIndex patientsAffected families/ families tested (%)*Affected first-degree relatives/first-degree relatives tested (%)*

  • Brenner 198933

  • HLHS

11No data provided5/41 (12)

  • Huntington 199734

  • Adult BAV from ultrasound register

3011/30 (37)27/186 (15)

  • Loffredo 200435

  • 46 COA, 38 HLHS diagnosed 1990–1993

84No data provided42/305 (14)

  • Cripe 200436

  • BAV

5023/50 (46)No data provided

  • Lewin 200437

  • 25 AVS, 3 BAV, 52 COA, 30 HLHS, 2 other

11342/113 (37)45/278 (16)

  • McBride 20052†

  • 34 AVS, 1 BAV, 59 COA, 30 HLHS

124No data provided25/329 (8)

  • Hinton 200738

  • 38 HLHS

3821/38 (55)23/126 (18)

  • This study

  • 50 BAV/AVS, 78 COA, 13 HLHS, 1 other

14228/142 (20)34/449 (8)

  • ↵* Data calculated from the referenced papers.

  • ↵† 113/124 index patients in the McBride study are the same as those in the Lewin study.

  • AVS, aortic valve stenosis; BAV, bicuspid aortic valve; COA, coarctation of the aorta; HLHS, hypoplastic left heart syndrome; LVOTO, left ventricular outflow tract obstruction.