TABLE 2.
SPINAL, CARDIAC AND RESPIRATORY FEATURES
| Family; country of origin | Mutation | Spinal phenotype | Cardiac involvement | Respiratory involvement |
|---|---|---|---|---|
| 1 UK |
p.Leu1481Pro^ | Cervical spine rigidity in proband; Scoliosis in sibling | No | Forced vital capacity fallen to 55% by age 34 years, and 22% by age 51 years |
| 2 USA |
p.Glu1508del | Presented with scoliosis, developed neck extensor contractures | Proband (II:1) DCM with MR, LV dysfunction, LVAD implanted aged 23 yrs most recent LV ejection fraction 0.21 | Shortness of breath with walking or climbing stairs |
| 3 Belgium |
p.Glu1508del | Kyphoscoliosis, exaggerated lumbar lordosis | No | No |
| 6 UK |
p.Arg1608Pro^ | Marked thoracic scoliosis requiring surgical fixation at 9 years | Proband (III:3) had mildly impaired LV function by 19 years; β-blocker commenced; 6 years later the LV systolic and diastolic dimensions are 2.5 and 3.6 cms respectively | Forced vital capacity reduced to 43% of predicted by 13 years. Required non-invasive ventilation soon after |
| 7 UK |
p.Leu1612Pro | Late in first decade of life developed spinal rigidity and scoliosis, cervical spine rigidity | No | No |
| 8 USA |
p.Lys1617del | Spinal fusion for scoliosis in proband | No | No |
| 9 UK |
p.Lys1617del | One person had scoliosis needing surgical fixation, one patient had marked lumbar lordosis | No | No |
| 11 USA |
p.Lys1617del | No | No | Forced vital capacity 72% and forced expiratory volume (1 min) 57% by 10 years |
| 12 UK |
p.Lys1617del | Spinal rigidity by 10 years | Proband (II:1) DCM detected aged 11.5 years, initial LV diameter 44cm, treated with ACE inhibitor and decreased to 41mm LV diameter by 15 years; FS = 29% | Forced vital capacity declined to 35% of predicted by 15 years |
| 13 Spain |
p.Ala1636Pro^ | Thoracic scoliosis in two | Single person (III:13) with aortic valvulopathy due to rheumatic fever | No |
| 14 USA |
p.Leu1646Pro^ | Thoracic scoliosis and lumbar lordosis in one | No | No |
| 16 UK |
p.Glu1669del^ | Neck extensor contractures | No | No |
| 17 Finland |
p.Lys1729dup^ | No | Single member (II:3) had “heart attack” aged 44 years | No |
| 18 UK |
p.Leu1793del^ | Marked kyphoscoliosis by 18 years | Proband (II:1) had DCM requiring orthoptic heart transplant aged 3 years | No |
| 19 Israel |
p.Glu1801Lys | Marked lumbar lordosis | Proband (III:1) had HCM by 23 yrs: diastolic IVS thickness 1.2cm (N<1.1); FS = 20% (N>28%) | No |
| 20 USA |
p.Glu1914Lys^ | No | Proband (II:3) presented at birth with HCM, required cardiac transplantation aged 3.5 yrs; explanted heart = NCCM | Pulmonary hypertension secondary to cardiac disease |
| 21 USA |
p.Glu1914Lys^ | No | Proband (II:1) had DCM by 8 weeks, stable on medication at 5 years with EF 65% | No |
^
= previously undescribed
DCM = Dilated cardiomyopathy
HCM = Hypertrophic cardiomyopathy
NCCM = Noncompaction cardiomyopathy
MR = Mitral regurgitation
LV = Left ventricular
LVAD = Left ventricular assist device
ACE = Angiotensin converting enzyme
FS = fractional shortening
IVS = interventricular septum
EF = ejection fraction