Triglyceride (TG) and orphan diseases
Discovery of TG-deposit cardiomyovasculopathy (TGCV) with PNPLA2 (ATGL) mutation
Postmortem analyses revealed undiagnosed individuals with TGCV
Development of diagnostic methods for TGCV
Nomenclature, definition, and classification of TGCV
Pathophysiology of TGCV
A clinical case presentation of I-TGCV
Primary | Idiopathic | |
---|---|---|
n = 7 | n = 18 | |
General Status | ||
Age (years) | 55.7 ± 12.7 | 64.6 ± 14.7 |
Sex (female, male) (n) | (2, 5) | (9, 9) |
BMI (kg/m2) | 19.4 ± 3.4 | 25.4 ± 5.0 |
Family history for CVD | 7 | 13 |
ATGL expression | ||
PNPLA2 mutation | Yes | No** |
ATGL activities in leukocytes (nmol/h/mg)* | 5.3 ± 8.3 | 12 ± 9 |
(reference value 52 ± 13 nmol/h/mg) | ||
Vacuole formation in polymorphonuclear leukocytes (%) | ~ 100% | < 10% |
Heart disease | ||
Mean age of symptom onset (years) | 37.7 ± 9.2 | 55.9 ± 12.5 |
Angina at rest (n) | 3 | 10 |
Dyspnea or palpitation (n) | 4 | 8 |
Clinical diagnosis at registration | ||
Angina pectoris | 1 | 13 |
(rest, effort) (n) | (1,0) | (11, 2) |
Heart failure (n) | 5 | 8 |
Critical arrhythmia (n) | 4 | 1 |
History of myocardial infarction (n) | 0 | 4 |
NYHA classification (I, II, III, IV) (n) | (1, 1, 2, 3) | (2, 5, 11, 0) |
Coronary angiography or CT angiogram | ||
Affected branch (single vessel, multivessels) (n) | (0, 5) | (4,14) |
Diffuse narrowing (n) | 5 | 18 |
Washout rate in BMIPP scintigram (%) | 一3.2 ± 4.8 | 1.4 ± 8 |
(reference value 19.4 ± 3.2%) | ||
Treatment history | ||
Percutaneous coronary intervention (n) | 0 | 7 |
Coronary artery bypass grafting (n) | 0 | 5 |
Cardiac transplantation (n) | 2 | 0 |
Comorbidity | ||
Skin lesions (n) | 0 | 0 |
Skeletal myopathy (n) | 7 | 0 |
Diabetes mellitus (n) | 2 | 15 |
Outcome | ||
Death (n) | 5 | 3 |
(before, after registration) | (3, 2) | (2, 1) |