Hypoplastic Left Heart Syndrome Is Heritable
Robert B. Hinton, Jr, MD*,*,
Lisa J. Martin, PhD ,
Meredith E. Tabangin, MPH,
Mjaye L. Mazwi, MD*,
Linda H. Cripe, MD* and
D. Woodrow Benson, MD, PhD*
* Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
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Figure 1 Pedigrees Depicting the 38 HLHS Kindreds
Cardiovascular phenotype is represented by a box in the left upper quadrant for hypoplastic left heart syndrome (HLHS), in the right upper quadrant for an abnormal aortic valve (including bicuspid aortic valve), and in the right lower quadrant for other cardiovascular malformation (CVM). An empty symbol represents a normal cardiovascular phenotype, and a U denotes an individual not evaluated (unknown). Circles = female patients; squares = male patients. Probands indicated by arrows.
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Figure 2 Valve Phenotype in HLHS Probands
All aortic valves were both dysplastic and hypoplastic. Aortic valve morphology (A, B) showing the effective orifice of an anterior posterior bicuspid aortic valve (arrows, A) and unicommissural unicuspid aortic valve (arrows, B) in the parasternal short axis. Right-sided valve involvement (C, D) showing dysplasia of the tricuspid (arrows, C) and pulmonary (arrow, D) valves in the apical 4-chamber and parasternal long axis, respectively. Abbreviations as in Figure 1.
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