Table 4.
Clinical information of combined MMA patients with cardiovascular involvement.
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
|---|---|---|---|---|---|---|---|---|
| Gender | Female | Female | Male | Male | Female | Male | Male | Male |
| Age at onset | 1 month | 1 month | NA | NA | Birth | 3 months | 6 years | 4 years |
| Age at diagnosis | 2 months | 4 months | 15 days | 20 days | 1 month | 2 years and 3 months | 6 years | 4 years |
| MMACHC variant | c.567dupT/ c.567dupT |
c.609G> A/c.658_660delAAG |
NA | c.609G>A/c.609G>A | c.609G>A/c.616C>T | c.609G>A/c.80A>G | c.80A>G/ c.217C>T |
c.609G>A/c.80A>G |
| Cardiovascular involvement | Muscular VSD/CA-PAF | ASD/PDA | ASD/VSD/LV enlargement | CA-PAF | LV hypertrophy | PAH/heart failure | Systemic hypertension/heart failure | PAH |
| Other complications | / | / | / | / | / | CKD I/anemia | Haematuria/ proteinuria/ anemia |
AHS/hypothyroidism |
ASD, atrial septal defect; VSD, ventricular septal defect; PDA, patent ductus arteriosus; CA-PAF, coronary artery-pulmonary artery fistula; AHS, alveolar haemorrhagic syndrome; CKD, chronic kidney disease; PAH, pulmonary arterial hypertension; NA, not available.