Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene

Alawani, Sujata S; Paul, Abraham; Krishna, Mani Ram; Ahamed, Hisham

doi:10.4103/apc.apc_92_20

Cited by 2 publications

(1 citation statement)

References 8 publications

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“…Previous reports on MYH6 rs28711516 (c.166G > A; p.G56R) associations with atrial fibrillation [ 53 ] and sporadic dilated cardiomyopathy [ 55 ] and a GWAS study from south India [ 35 ] warrant further investigation of this gene. MYH7 mutations have been reported for Indian families [ 56 , 57 ]. Exon 12 variant rs735712 (c.1062C > T; p.G354G) has previously been reported in dilated cardiomyopathies in Indian population [ 58 ].…”

Section: Discussionmentioning

confidence: 99%

Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

Kukshal,

Joshi,

Kumar

et al. 2023

BMC Pediatr

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Background Congenital Heart diseases (CHDs) account for 1/3rd of all congenital birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations globally. Phenotypic heterogeneity witnessed in this developmental disorder reiterate gene-environment interactions with periconceptional factors as risk conferring; and genetic analysis of both sporadic and familial forms of CHD suggest its multigenic basis. Significant association of de novo and inherited variants have been observed. Approximately 1/5th of CHDs are documented in the ethnically distinct Indian population but genetic insights have been very limited. This pilot case–control based association study was undertaken to investigate the status of Caucasian SNPs in a north Indian cohort. Method A total of 306 CHD cases sub-classified into n = 198 acyanotic and n = 108 cyanotic types were recruited from a dedicated tertiary paediatric cardiac centre in Palwal, Haryana. 23 SNPs primarily prioritized from Genome-wide association studies (GWAS) on Caucasians were genotyped using Agena MassARRAY Technology and test of association was performed with adequately numbered controls. Results Fifty percent of the studied SNPs were substantially associated in either allelic, genotypic or sub-phenotype categories validating their strong correlation with disease manifestation. Of note, strongest allelic association was observed for rs73118372 in CRELD1 (p < 0.0001) on Chr3, rs28711516 in MYH6 (p = 0.00083) and rs735712 in MYH7 (p = 0.0009) both on Chr 14 and were also significantly associated with acyanotic, and cyanotic categories separately. rs28711516 (p = 0.003) and rs735712 (p = 0.002) also showed genotypic association. Strongest association was observed with rs735712(p = 0.003) in VSD and maximum association was observed for ASD sub-phenotypes. Conclusions Caucasian findings were partly replicated in the north Indian population. The findings suggest the contribution of genetic, environmental and sociodemographic factors, warranting continued investigations in this study population.

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Section: Discussionmentioning

confidence: 99%

Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

Kukshal,

Joshi,

Kumar

et al. 2023

BMC Pediatr

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Advances in symptomatic therapy for left ventricular non-compaction in children

Liu

2023

Front. Pediatr.

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Left ventricular non-compaction is a complex cardiomyopathy and the third largest childhood cardiomyopathy, for which limited knowledge is available. Both pathogenesis and prognosis are still under investigation. Currently, no effective treatment strategy exists to reduce its incidence or severity, and symptomatic treatment is the only clinical treatment strategy. Treatment strategies are constantly explored in clinical practice, and some progress has been made in coping with the corresponding symptoms because the prognosis of children with left ventricular non-compaction is usually poor if there are complications. In this review, we summarized and discussed the coping methods for different left ventricular non-compaction symptoms.

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Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene

Cited by 2 publications

References 8 publications

Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

Advances in symptomatic therapy for left ventricular non-compaction in children

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