Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease

Figures

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  Figure 1. Family 1. A: Family pedigree revealing atrial septal defects (ASD) and thumb anomalies in multiple family members. LVNC = left ventricular noncompaction. B: Electrocardiogram demonstrating sinus bradycardia with widespread T-wave inversion and ventricular ectopic beat in proband. C: Ventricular bigeminy on Holter monitor in proband. D: Sinus pause on Holter monitor in proband. E: Short- and long-axis cardiac magnetic resonance imaging from proband. F: Sanger sequencing validation of TBX5 predicted splice variant c.510+5G>T in the proband.

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  Figure 2. Family 2. A: Family pedigree revealing thumb anomalies in multiple family members. B: Thumb anomaly in proband. C: Thumb anomaly in proband's daughter. D: Electrocardiogram revealing sinus bradycardia and isorhythmic junctional rhythm, and nonspecific ST-T wave abnormality in proband. E: Sinus pause on Holter monitor in proband. F: Long- and short-axis cardiac magnetic resonance imaging from proband. G: Sanger sequencing validation of TBX5 frameshift variant p.Ser36ThrFs*25 in the proband.