Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Characteristics | Proband (I-1) | Second Daughter (II-2) | Fourth Daughter (II-4) |
---|---|---|---|
Diagnosis | Restrictive cardiomyopathy | Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy |
Sex/Age(year) | Male/74 | Female/44 | Female/41 |
Electrocardiography and Holter monitoring | Atrial fibrillation and rare premature ventricular contractions | Sinus rhythm with frequent premature ventricular contractions | Sinus rhythm with rare premature atrial contractions and premature ventricular contractions |
Transthoracic echocardiography | Biatrial enlargement and pericardial effusion | Asymmetric septal hypertrophy of LV and mildly dilated LA | Asymmetric septal hypertrophy of LV with mild LA enlargement |
LVEDD 50 mm | LVEDD 40 mm | LVEDD 39 mm | |
IVS 18 mm | IVS 17 mm | IVS 18.4 mm | |
EF 60.2% | EF 64.2% | EF 64.2% | |
E/e’ 14.1 | E/e’ 9 | E/e’ 10.1 | |
e’ 5.2 cm/s | e’ 9.9 cm/s | e’ 7.5 cm/s | |
TR peak velocity 3.8 m/s | TR peak velocity 1.8 m/s | TR peak velocity 2.5 m/s | |
LAVI 115 mL/m2 | LAVI 41 mL/m2 | LAVI 40.1 mL/m2 |
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Park, J.; Lee, J.-M.; Cho, J.S. Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report. Medicina 2021, 57, 281. https://doi.org/10.3390/medicina57030281
Park J, Lee J-M, Cho JS. Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report. Medicina. 2021; 57(3):281. https://doi.org/10.3390/medicina57030281
Chicago/Turabian StylePark, Joonhong, Jong-Min Lee, and Jung Sun Cho. 2021. "Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report" Medicina 57, no. 3: 281. https://doi.org/10.3390/medicina57030281