Background Understanding the impact of gene interactions on disease phenotypes is
increasingly recognised as a crucial aspect of genetic disease research. This trend is …

Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain
(myosin-7), has attracted considerable interest as a result of its fundamental functions in …

Background—Mutations in the genes encoding sarcomere proteins have been associated
with both hypertrophic and dilated cardiomyopathy. Recently, mutations in myosin heavy …

Background Left ventricular noncompaction (LVNC) has since been classified as a primary
genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present …

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease
characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and …

OBJECTIVE. The objectives of this article are to review the imaging findings of left ventricular
noncompaction (LVNC) at echocardiography, cardiac MRI, and MDCT; to discuss diagnostic …

Background—Massively parallel sequencing to identify rare variants is widely practiced in
medical research and in the clinic. Genome and exome sequencing can identify the genetic …

Trabeculation and compaction of the embryonic myocardium are morphogenetic events
crucial for the formation and function of the ventricular walls. Fkbp1a (FKBP12) is a …

Abstract Background Congenital heart diseases (CHDs) are the most common congenital
anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of …

Gene mutations, mostly segregating with a dominant mode of inheritance, are important
causes of dilated cardiomyopathy (DCM), a disease characterized by enlarged ventricular …