Pregnancy exposes women with inherited cardiomyopathies to increased risk for heart failure
and arrhythmias. In this paper, we review the clinical course and management of pregnant …

Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …

Background— Mutations in the plakophilin-2 gene (PKP2) have been found in patients with
arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic …

Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia,
mental retardation, and skeletal and other anomalies. Two loci associated with this …

Background— Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy
featuring a thickened bilayered LV wall consisting of a thick endocardial layer with prominent …

Mutations in the PORCN gene were first identified in Goltz‐Gorlin syndrome patients in 2007.
Since then, several reports have been published describing a large variety of genetic …

Background— Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an
autosomal dominant inherited disease with incomplete penetrance and variable expression. …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features,
osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we …

The H19 differentially methylated region (DMR) controls the allele-specific expression of both
the imprinted H19 tumor-suppressor gene and the IGF2 growth factor. Hypermethylation of …