Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7.
10.3760/cma.j.cn112148-20230929-00200
- Author:
Ya Hui ZHANG
1
;
Xiao Yan LI
2
;
Bang Rong SONG
3
;
Yue Li WANG
4
;
Jun Rui ZHANG
5
;
Yan Long REN
6
Author Information
1. Department of Acute Coronary Syndrome Ward, Center for Coronary Artery Disesse, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
2. Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, Key Laboratory of Remodeling-Related Cardiovascular Disease of the Ministry of Education, Beijing 100029, China.
3. Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
4. Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
5. Department of Cardiology, Shanxi Cardiovascular Hospital, Taiyuan 030024, China.
6. Intensive Care Unit, Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Engineering Research Center of Cardiovascular Wisdom Diagnosis and Treatment, Beijing 100029, China.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Cardiac Myosins/genetics*;
Heart Defects, Congenital;
Mutation;
Mutation, Missense;
Myosin Heavy Chains/genetics*;
Pedigree;
Phenotype
- From:
Chinese Journal of Cardiology
2023;51(11):1160-1165
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To explore the relationship between pathogenic gene, mutation and phenotype of left ventricular noncompaction (LVNC) patients and their family members. Methods: The subjects were the proband with LVNC and her family members. The medical history including electrocardiogram, echocardiography and cardiac magnetic resonance examination of the proband and family members were collected. Whole exome sequencing of the proband was performed, bioinformatics analysis focused on the genes related to hereditary cardiomyopathy. Candidate pathogenic sites were validated by Sanger sequencing. The clinical interpretation of sequence variants were classified according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: The proband carried a heterozygous variation of the MYBPC3 gene c.C2827T and the MYH7 gene c.G2221C. The proband's sister carried heterozygous variation of MYBPC3 gene c.C2827T. According to the ACMG guidelines, the variant was determined to be pathogenic. Conclusion: The missense variant of MYBPC3 gene c.C2827T and MYH7 gene c.G2221C are identified from the proband with LVNC and her family member, which provides a genetic basis for clinical diagnosis and genetic counseling of the patients and the family members with LVNC.
