Muyu Qi^1,#, Xiaoping Lan^2,#, Jia Li¹, Junwen Ge¹, Li Shen^1,*, Rufang Zhang^1,*

Congenital Heart Disease, Vol.16, No.5, pp. 487-498, 2021, DOI:10.32604/CHD.2021.015887

Abstract Objective: Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery. Therefore, defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling, future prenatal diagnosis, and therapeutic approaches for pulmonary atresia. Methods: Blood samples were collected from six PA family members, and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. Gene detection was performed using a second-generation sequencing gene panel. Results: Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the… More >

Junsung Park¹, Go Hun Seo², Yena Lee¹, Yunha Choi¹, Minji Kang³, Hyo-Sang Do³, Young-Hwue Kim⁴, Jeong Jin Yu⁴, Ellen Ai-Rhan Kim⁵, Euiseok Jung⁵, Byong Sop Lee⁵, Jae Suk Baek^4,#,*, Beom Hee Lee^1,6,#,*

Congenital Heart Disease, Vol.16, No.4, pp. 397-410, 2021, DOI:10.32604/CHD.2021.015167

Abstract Background and Method: The genetic cause of infantile-onset cardiomyopathy is rarely investigated. Here, we conducted whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic variations. Result: Among these patients, two (25%) had dilated cardiomyopathy (DCMP), two (25%) had left ventricular non-compaction (LVNC), and four (50%) had hypertrophic cardiomyopathy (HCMP). Except four patients identified prenatally, the remaining patients presented at a median age of 85.5 days. WES identified genetic variants in a total of seven (87.5%) patients and mtDNA sequencing in the other case. TPM1 and MYH7 variants were identified in the… More >

Kari L. Turkowski¹, David J. Tester^2,3, J. Martijn Bos^2,4, Kristina H. Haugaa⁵, Michael J. Ackerman^2,3,4

Congenital Heart Disease, Vol.12, No.2, pp. 226-235, 2017, DOI:10.1111/chd.12462

Abstract Background: Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half of all ACM, the remainder is elusive genetically. Objective: Here, whole exome sequencing (WES) was performed with genomic triangulation in an effort to identify a novel explanation for a phenotype-positive, genotype-negative multigenerational pedigree with… More >