Table 1 Descriptive analysis of TBRS-affected family members
Proband | Affected sibling | Mother | |
|---|---|---|---|
Sex | Male | Male | Female |
Age at diagnosis | 34 years | 39 years | 58 years |
Height | 191 cm | 192 cm | 169 cm |
Weight | 120 kg | 140 kg | 130 kg |
BMI | 32.89 | 37.98 | 44.98 |
Facial appearance | Head circumference 63 cm, hypertrichosis, coarse facial features, synophrys, improper growth of teeth, fractured front teeth, hypertelorism | Head circumference—62 cm (90–97‰), synophrys, milder facial features, horizontal thick eyebrows, abdominal stretch marks | Head circumference 56 cm, milder facial features, horizontal thick eyebrows |
Intellectual disability | Verbal IQ score of 75—poor verbal comprehension; non-verbal IQ score of 55—mild intellectual disability, special education in a secondary school | Attended mainstream school following the standard curriculum | Attended mainstream school following the standard curriculum |
Skeletal deformity | Kyphoscoliosis; pectus excavatum surgically corrected in childhood | Scheuermann’s kyphosis with critical spinal cord compression, surgically corrected at age 38 | Spinal osteochondrosis, spondyloarthrosis |
LV dilatation (LVEDD) on TTE | 6.9 cm | 5.9 cm | 6.7 cm |
Aortic root dilatation | Proximal ascending aorta aneurysm (6 cm) | Aortic sinus diameter—4.5 cm | – |
MV/TV incompetence | Cleft posterior MV leaflet, mitral prolapse, severe (grade 3) MV regurgitation | Mild (grade 1) MV regurgitation | Mild-to-moderate (grade 1–2) MV regurgitation; mild (grade 1) TV regurgitation |
LV non-compaction | + | − | − |
Arrhythmias | Non-sustained ventricular tachycardia, second-degree type I AV block | Short episodes of supraventricular and non-sustained ventricular tachycardia | Short episodes of supraventricular and non-sustained ventricular tachycardia |
Arterial hypertension | + | + | + |
Venous pathology of the lower extremities | Deep vein thrombosis after immobilization due to fracture of the left leg | Varicose veins | Varicose veins; thrombophlebitis |
Lymphedema | − | + | + |
Additional features/comorbidities | Primary arterial hypertension; astigmatism; gynecomastia; abdominal stretch marks; hindfoot deformity; broad foot; joint hypermobility | Primary arterial hypertension; gastric erosions; joint hypermobility; myopia | Resistant arterial hypertension; dyslipidemia; chronic kidney disease Stage 3a; type 2 diabetes; breast cancer (left mastectomy has been performed) |