Table S1.
Patient genotype and history
| cs001 | cs002 | cs003 | cs004 | cs005 | cs006 | cs007 | cs008 | cs009 | cs010 | cs011 | |
| Age (y), gender | 12.3 M | 17.9 F | 23.4 F | 47.0 F | 18.1 F | 12.8 M | 32.0 F | 1.5 F | 4.0 M | 6.0 M | 8.0 M |
| Height (cm) | 152.1 | 155.3 | 163.7 | 181.2 | 157.8 | 139.8 | 177 | 81.5 | 109 | 121.2 | 143.3 |
| Height (%) for age | 75 | 10 | Adult | Adult | 10–25 | <5 | Adult | 50–75 | 90–95 | 75–90 | >95 |
| Weight (kg) | 45.6 | 45.4 | 57.2 | 100.1 | 68.3 | 30.7 | 87.6 | 10.48 | 21.3 | 23.4 | 39.7 |
| Amino acid substitution | R1154W | R1154Q | R1154Q | R1154Q | R1154W | H1005L | R1116C | R1116C | R1116C | R1116C | R1116H |
| History | |||||||||||
| Orthopnea | — | — | — | Yes | — | — | — | — | — | — | — |
| Exercise intolerance | — | — | — | Yes | — | — | — | — | — | — | — |
| Symptoms with exertion | — | — | — | Yes | Occasionally | — | — | — | — | — | — |
| Palpitations | — | Yes | — | Yes | Yes | — | — | — | — | — | — |
| Presyncope | — | — | — | — | — | — | — | — | — | — | — |
| Syncope | — | — | — | — | — | — | — | — | — | — | — |
| Fatigue | — | — | — | — | — | — | — | — | — | — | — |
| Headaches | Yes | Yes | Yes | No | No | Yes | — | — | — | — | |
| Rhythm abnormalities | No | No | No | AF | No | No | No | No | No | No | No |
| PDA | Yes | No | No | No | Yes | No | Yes | Yes | No | Yes | Yes |
| Pericardial effusion | No | Yes | No | Yes | No | No | No | No | No | No | No |
| Pulmonary hypertension | No | Yes | No | No | No | No | No | Yes | No | No | Yes |
| Lower extremity edema | No | Yes | Yes | Yes | Yes | No | Yes | No | No | No | No |
| Medications | Atenolol, Cardizem Lasix, spironolactone | Enalapril, Focalin | Sildenafil | ||||||||
| Physical | |||||||||||
| HR (bpm) | |||||||||||
| Supine | 78 | 72 | 74 | 92 | 66 | 100 | 75 | 126 | 90 | 90 | 72 |
| Upright | 84 | 88 | 88 | 92 | 76 | 104 | 83 | 120 | 102 | 112 | 96 |
| HR norms for age (10–90%) | 62–96 | 62–96 | 60–80 | 60–80 | 62–96 | 62–96 | 60–80 | 98–135 | 86–123 | 81–117 | 74–111 |
| BP (mmHg) | |||||||||||
| Supine | 92/62 | 88/52 | 92/70 | 116/60 | 88/50 | 74/56 | 106/64 | 72/50 | 84/56 | 85/60 | 98/60 |
| Upright | 96/66 | 92/58 | 88/62 | 108/70 | 98/62 | 74/50 | 102/60 | 94/64 | 74/56 | 72/54 | 100/62 |
| Orthostatic changes: BP | No | No | No | No | No | No | No | No | No | No | No |
| Orthostatic changes: HR | No | No | No | No | No | No | No | No | No | No | Yes |
| BP norms for age (50–99%) | 108–133/63–90 | 109–133/65–90 | 120–140/80–90 | 120–140/80–90 | 120–140/80–90 | 101–126/59–86 | 120–140/80–90 | 90–114/42–67 | 95–120/51–78 | 98–123/53–80 | 102–127/61–88 |
| Age at which systolic BP represents 50th percentile | 4-y-old boy | 4-y-old girl | 6-y-old girl | Normal adult | 4-y-old girl | <1-y-old boy | 11-y-old girl | 1-y-old girl | <1-y-old boy | <1-y-old boy | 8-y-old boy |
| CV findings | None | None | None | Chronic venous changes | None | None | Chronic venous changes | None | None | None | None |
AF, atrial fibrillation; PDA, patent ductus arteriosus.