Patient age categories, m.3243A>G phenotype and cardiac findings
| Patient no | Age range (years) | Blood; Urine; Muscle mtDNA Heteroplasmy (%) | BMI | Disease burden NMDAS | Clinical features | LVH pattern (cm) | Lowest LVEF% | ECG changes | Cardiac medications |
| 1 | 40s | 21; 43;73 | 27.5 | 33.5 | MELAS syndrome; SNHL; IDDM; myopathy; anaemia; CKD stage 4 | Concentric (1.5) | 50%–55% | LVH and strain | Irbesartan Bisoprolol |
| 2 | 20s | 33; 89; 89 | 20.7 | 19.7 | Myoclonus; migraine; vaso-vagal syncope; ataxia; episodic vomiting; deafness; fatigue | – (0.8) | 50%LVH has cMRI | Normal | None |
| 3 | 20s | 24; 80; NA | 24.3 | 1.0 | Asymptomatic | – (0.8) | >55% | Normal | None |
| 4 | 40s | 34; 80; NA | 22.0 | 1.1 | Asymptomatic | – (1.1) | 50%–55% | Normal | Bisoprolol |
| 5 | 50s | 17; 75; 50 | 22.8 | 35.2 | SNHL; CPEO; ataxia; myopathy | Concentric (1.3) | ~55% | LA-enlarged & LAD | Ramipril Bisoprolol |
| 6* | 30s | 44; 86;86 | 18.5 | 14.5 | Myopathy; fatigue; IDDM; mild SNHL | Concentric (1.5) | 40%–45% | Flat, inverted T-waves | Perindopril Bisoprolol |
| 7* | 30s | 43; 94; NA | 20.3 | 20.7 | Fatigue; mild SNHL; IDDM | Concentric (1.5) | >55% | WPW & SVT (ablated); LVH & strain ECG | Lisinopril Bisoprolol |
| 8 | 50s | 17; 69; 67 | 23.7 | 55.8 | SNHLs; IDDM; myopathy; glomerulonephritis; SA | – (1.03) | 25%–30% | T-wave changes apically | Perindopril Bisoprolol |
| 9 | 20s | 40; 71%; NA | 21.9 | 8.3 | Migraine; fatigue; intestinal pseudo-obstruction; | Apex- only (septum1.1) | >55% | Normal | None |
*Family history of sudden death.
BMI, body mass index; CKD, chronic kidney disease; CPEO, chronic progressive ophthalmoplegia; ECG, electrocardiogram; GFR, glomerular filtration rate; IDDM, insulin dependent diabetes mellitus; LAD, left axis deviation; LVEF, left ventricular ejection fraction; LVH, left ventricular hypertrophy; MELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; mtDNA, mitochondrial DNA; NMDAS, Newcastle Mitochondrial Disease Adult Scale; SA, sleep apnoea; SNHL, sensorineural hearing loss; SVT, supraventricular tachycardia; WPW, Wolff Parkinson White.