Table 1.
Clinical features of family members identified as gene carriers.
| Symptoms and clinical profile |
Echo/CMR data |
ECG data |
Lab |
Exercise test |
|||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family member | Age/Sex | Mutations | Age at onset* (years) | NYHA class | Syncope | AF | HBP | Pacemaker | NSVT | Max wall thickness LV# (mm) Echo/CMR | Diameter LA (mm) | EF (%) | SAM | e/a ratio | LVOT gradient | Fibrosis | RE Score | NT-proBNP (pmol/l)‡ | Systolic blood pressure response (mmHg) |
| II:10 | †.M | CSRP? MYH7- | ? | ? | ? | ? | ? | ? | ? | ?/? | ? | ? | ? | ? | ? | ? | ? | ? | ? |
| II:1 | 69/F | CSRP- MYH7+ | 54 | - | - | - | - | - | - | 14/13 | 46 | 70 | - | 0.5 | + | - | 5 | 29.1 | 30 |
| III:1 | 51/M | CSRP- MYH7+ | 50 | - | - | - | - | - | - | 11/17 | 49 | 70 | - | 1.1 | + | + | 3 | 11.0 | 130 |
| III:2 | 47/M | CSRP+ MYH7+ | 30 | II-III | - | + | - | + | - | 25/? | 54 | 55 | +/− | 2 | - | ? | 12 | 220 | 15 |
| III:3 | 44/M | CSRP+ MYH7+ | 29 | III | + | + | - | + | - | 21/? | 62 | 62 | + | 3.1 | + | ? | 9 | 139 | ? |
| III:4 | 42/M | CSRP+ MYH7- | 41 | - | - | - | - | - | - | 9/12 | 48 | 63 | - | 2.3 | - | + | 1 | 0.8 | 50 |
| IV:2 | 19/F | CSRP+ MYH7+ | - | - | - | - | - | - | - | 8/8 | 32 | - | - | 1.6 | - | - | 0 | 8.2 | 55 |
AF=atrial fibrillation, CMR=cardiac magnetic resonance imaging, Echo=echocardiography, F=female, HBP=high blood pressure (hypertension), LVOT=left ventricular outflow tract, LV=left ventricle, M=male, NSVT=nonsustained ventricular tachycardia, NYHA=New York Heart Association, RE score=left ventricular hypertrophy score according to Romhilt and Estes, SAM=systolic anterior motion of the mitral valve, VT=ventricular tachycardia, ?=not known i.e. test was not carried out. *Age at onset was defined as age where HCM was measured for the first time. # Maximal wall thickness LV - measured on echo or CMR. ‡ Normal value=0–35 pmol/l. +Presence of a symptom or therapy. -Absence of a symptom or therapy.