Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. PLN Cohort
3.2. Genotype-Phenotype Correlation and PNL-Other Sarcomeric Gene Comparison
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Characteristic | Pt 1.1 | Pt 1.2 | Pt 2.1 | Pt 2.2 | Pt 2.3 | Pt 3.1 | Pt 4.1 | Pt 4.2 | Pt 5.1 | Pt 6.1 | Pt 6.2 | Pt 7.1 | Pt 8.1 | Pt 9.1 | Pt 10.1 | Pt 11.1 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age | 54 | 59 | 48 | 49 | 17 | 69 | 74 | 42 | 52 | 10 | 50 | 55 | 74 | 37 | 68 | 49 |
Sex | F | M | M | F | M | F | M | F | M | M | M | F | M | F | M | M |
Age at disease onset | 33 | 54 | 47 | - | - | 54 | 62 | 42 | 51 | 4 | - | 54 | 66 | 30 | 57 | 44 |
Family history | ||||||||||||||||
HCM | + | + | - | + | + | - | - | + | - | - | + | - | - | - | - | - |
SCD | - | - | - | - | - | + | - | - | + | - | - | + | - | + | - | - |
Symptoms | ||||||||||||||||
NYHA Class | II | II | II | - | - | II | II | I | I | I | - | II | I | IV | II | III |
Syncope | - | - | - | - | - | - | - | - | - | - | - | + | - | - | - | + |
Palpitations | + | + | + | - | - | - | - | - | - | - | - | - | - | - | + | + |
Chest pain | + | - | + | - | - | + | - | - | - | + | - | + | - | - | - | - |
ECG abnormalities | ||||||||||||||||
High QRS voltage | - | - | - | - | + | + | + | - | + | + | - | - | + | - | - | - |
Low QRS voltage | - | - | - | - | - | - | - | - | - | - | - | - | - | + | + | + |
Repolarization abnormalities | + | + | + | - | - | + | + | - | + | + | + | - | + | - | - | + |
Pathologic Q waves | - | - | - | - | - | - | + | - | - | + | + | - | - | - | + | + |
Other LP/P cardiomyopathy variants | - | - | - | - | - | - | - | - | - | + | - | - | - | - | + | + |
Characteristic | Pt 1.1 | Pt 1.2 | Pt 2.1 | Pt 2.2 | Pt 2.3 | Pt 3.1 | Pt 4.1 | Pt 4.2 | Pt 5.1 | Pt 6.1 | Pt 6.2 | Pt 7.1 | Pt 8.1 | Pt 9.1 | Pt 10.1 | Pt 11.1 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | hyp | mix | hyp | - | - | hyp | mix | hyp | hyp | hyp | - | hyp | hyp | dil | mix | dil |
ETT | ||||||||||||||||
LVEDD/LVESD (mm) | 46/26 | 45/40 | 41/24 | 38/23 | 42/26 | 44/30 | 57/29 | 37/25 | 41/27 | 28/15 | 38/25 | 44/28 | 51/29 | 52 | 57/51 | 59/43 |
LVEDVi/LVESVi (mL/m2) | 57/19 | 52/31 | 50/18 | 56/37 | 47/17 | 76/29 | 64/24 | 77/29 | 57/44 | 92/72 | 53/40 | |||||
IVS/PW (mm) | 22/11 | 15/14 | 11/10 | 11/9.5 | 10/10 | 18/13 | 22/12 | 13/9 | 16/15 | 26/8 | 10/9 | 16/13 | 18/11 | 15/10 | 9/5 | |
MWT (mm) | 30 | 16 | 16 | 11.5 | 10 | 20 | 22 | 13 | 16 | 28 | 11 | 17 | 18 | 17 | 9 | |
RVWT (mm) | 7 | 6.5 | 7 | 4 | 9 | 8 | 5 | 7 | 8 | 7 | 8 | 6 | 4 | |||
LVEF (%) | 67 | 40 | 70 | 60 | 65 | 70 | 33 | 62 | 62 | 65 | 63 | 62 | 69 | 22 | 21 | 25 |
E/A | 2.1 | 1.2 | 1.1 | 1.7 | 1.2 | 0.8 | 1 | 1.5 | 1.2 | 0.79 | 3.8 | 3.2 | ||||
E/e’ | 21 | 15 | 9.2 | 9 | 7 | 6 | 8.5 | 8 | 4.5 | 13 | 10.9 | 9 | 16.3 | |||
LVOT/mid-cavity peak gradient a | 30 | - | 48 | - | - | 90 | - | - | - | - | - | - | - | - | - | - |
Other ETT findings | AA | AH Cr | AA Cr | tTR | PE | |||||||||||
CMR | ||||||||||||||||
LVEF (%) | 70 | 71 | 34 | 54 | 60 | 58 | 61 | 40 | 27 | |||||||
RVEF (%) | 69 | 69 | 38 | 58 | 65 | 53 | 55 | 39 | ||||||||
LVEDVi (ml/m2) | 70 | 70 | 142 | 73 | 84 | 66 | 66 | 121 | ||||||||
LVESVi (ml/m2) | 20 | 20 | 94 | 34 | 34 | 27 | 26 | 88 | ||||||||
MWT (mm) | 22 | 18 | 20 | 13 | 18 | 23 | 16 | 9 | ||||||||
LGE | + | + | + | - | + | + | + | + | + |
Overall Cohort Characteristics | PLN (n = 16) | MYBPC3/MYH7 (n = 13) | p Value |
---|---|---|---|
Baseline characteristics | data | data | data |
Female gender, n (%) | 10 (62.5) | 7 (53.8) | 0.691 |
Age (years), median (IQR) | 51 (43.5–65.7) | 55 (43–68) | 1.000 |
Family history of SCD, n (%) | 4 (25) | 2 (15.3) | 0.352 |
Family history of HCM, n (%) | 6 (37.5) | 6 (46.1) | 0.216 |
Age at diagnosis (years), median (IQR) | 54 (42.5–65) | 46.0 (32.5–49.5) | 0.342 |
HCM phenotype, n (%) | 8 (50) | 9 (69.2) | |
DCM phenotype, n (%) | 2 (12.5) | 0 (0) | |
Mixed phenotype, n (%) | 3 (18.7) | 4 (30.7) | |
Apical hypertrophy, n (%)Significant coronary artery disease, n (%) | 2 (12.5) | 2 (15.3) | 1.000 |
2 (20.0) | 0 (0) | 0.119 | |
Symptoms | |||
Dyspnea, n (%) | 9 (56.2) | 10 (76.9) | 0.658 |
NYHA class ≥ III, n (%) | 2 (12.5) | 5 (38.4) | 0.185 |
Palpitations, n (%) | 5 (31.2) | 4 (30.7) | 0.680 |
Syncope, n (%) | 2 (12.5) | 4 (30.7) | 0.352 |
Angina, n (%) | 5 (31.2) | 2 (15.3) | 0.185 |
Biomarkers | |||
NTproBNP (pg/mL), mean ± SD | 4893.2 ± 6299.5 | 4815.4 ± 5390.5 | 0.980 |
CK (U/l), mean ± SD | 75 ± 42 | 113.6 ± 37.1 | 0.079 |
CK-MB (U/l), mean ± SD | 28.1 ± 31 | 26.2 ±7.8 | 0.082 |
ECG findings | |||
High QRS voltage, n (%) | 6 (37.5) | 4 (30.7) | 0.680 |
Low QRS voltage, n (%) | 3 (18.7) | 2 (15.3) | 0.619 |
Pathological Q waves, n (%) | 5 (31.2) | 0 (0) | 0.030 |
Repolarization abnormalities, n (%) | 9 (56.2) | 11 84.6() | 0.185 |
LBBB/RBBB morphology, n (%) | 1 (6.2) | 6 (46.1) | 0.047 |
Holter monitoring | |||
Non-sustained VT, n (%) | 5 (31.2) | 0 (0) | 0.027 |
History of Afib, n (%) | 9 (56.2) | 8 (61.5) | 0.680 |
Echocardiographic features | |||
LVEDD (mm), mean ± SD | 45 ± 8.4 | 46 ± 9.6 | 0.934 |
LVESD (mm), median (IQR) | 27 (25–30) | 27.5 (23.5–39) | 0.800 |
IVS (mm), mean ± SD | 15.5 ± 5 | 17.4 ± 5.4 | 0.761 |
PW (mm), mean ± SD | 10.6 ± 2.5 | 11.7 ± 3.1 | 0.481 |
MWT (mm), median (IQR) | 17 ± 6.1 | 18.7 ± 4.9 | 0.930 |
LVEDVi (mL/m2), mean ± SD | 61.8 ± 14.1 | 45.9 ± 19.7 | 0.045 |
LVESVi (mL/m2), mean ± SD | 32.7 ± 15.8 | 21.5 ± 13.9 | 0.050 |
LVEF (%), median (IQR) | 62 (34.7–66.5) | 55 (39–69.5) | 0.614 |
LVEF <50%, n (%) | 5 (31.2) | 4 (30.7) | 0.680 |
Dinamic gradientb > 30 mmHg, n (%) | 3 (18.7) | 2 (15.3) | 0.619 |
LV GLS (%), mean ± SD | 15.1 ± 6.2 | 14.6 ± 5.8 | 0.637 |
E/A ratio, mean ± SD | 1.6 ± 0.9 | 2.7 ± 2.5 | 0.295 |
E/e’ ratio, mean ± SD | 10.5 ± 4.6 | 11.2 ± 8.8 | 0.870 |
LAVi (mL/m2), mean ± SD | 49.8 ± 42.6 | 75.5 ± 29.6 | 0.320 |
RVFW thickness (mm), median (IQR) | 7 (5.5–8) | 6.5 (5–7.5) | 0.497 |
CMR features | |||
LVEDVi (MRI) (mL/m2), median (IQR) | 71.5 (67–111.7) | 72.5 | 0.889 |
LVESVi (MRI) (mL/m2), median (IQR) | 30.5 (21.6–74.7) | 24.5 | 0.296 |
LVEF (MRI) (%), median (IQR) | 59 (37–65.5) | 66.5 (59–66.5) | 0.230 |
RVEF (MRI) (%), mean ± SD | 55.7 ± 12.2 | 61.4 ± 6.8 | 0.370 |
LV LGE, n (%) | 8 (88.8) | 6 (100) | 0.849 |
Scores | |||
HCM Risk SCD score (%), mean ± SD | 4.3 ± 3.2 | 4.7 ± 4.7 | 0.819 |
Treatment | |||
Medication, n (%) | 12 (75) | 13 (100) | 0.308 |
ASA/ Septal myectomy, n (%) | 1 (6.2) | 0 (0) | 0.308 |
ICD, n (%) | 5 (31.2) | 4 (30.7) | 0.680 |
Pacemaker, n (%) | 0 (0) | 1 (7.6) | 0.308 |
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Afana, A.S.; Vasiliu, L.; Sascău, R.; Adam, R.D.; Rădulescu, C.; Onciul, S.; Cinteză, E.; Chirita-Emandi, A.; Jurcuț, R. Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review. J. Cardiovasc. Dev. Dis. 2024, 11, 41. https://doi.org/10.3390/jcdd11020041
Afana AS, Vasiliu L, Sascău R, Adam RD, Rădulescu C, Onciul S, Cinteză E, Chirita-Emandi A, Jurcuț R. Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review. Journal of Cardiovascular Development and Disease. 2024; 11(2):41. https://doi.org/10.3390/jcdd11020041
Chicago/Turabian StyleAfana, Andreea Sorina, Laura Vasiliu, Radu Sascău, Robert Daniel Adam, Cristina Rădulescu, Sebastian Onciul, Eliza Cinteză, Adela Chirita-Emandi, and Ruxandra Jurcuț. 2024. "Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review" Journal of Cardiovascular Development and Disease 11, no. 2: 41. https://doi.org/10.3390/jcdd11020041