Snjezana Miocic

TL;DR: The lamin A/C gene was examined in the MDDC1 family and a single nucleotide deletion was identified within exon 6, and all affected individuals were found to be heterozygous for this deletion.

TL;DR: Familial dilated cardiomyopathy is frequent, cannot be predicted on a clinical or morphologic basis and requires family screening for identification, and initial molecular genetic data indicate that multiple genes and pathogenetic mechanisms can lead to FDC.

TL;DR: In this article, the authors evaluated the characteristics, mode of inheritance and etiology of familial dilated cardiomyopathy (FDC) and found that only a younger age and a higher ejection fraction (p = 0.03) could clinically distinguish FDC patients from those with sporadic DCM.

TL;DR: It is suggested that mutations in MYH6 may cause a spectrum of phenotypes ranging from DCM to HCM, and the DCM carrier phenotype was characterized by late onset, whereas the HCM phenotype was characterize by progression toward dilation, left ventricular dysfunction, and refractory heart failure.

TL;DR: In clinical surveys, familial dilated cardiomyopathy (FDC) has been demonstrated in 20% to 30% of patients, and in these patients, the cause of the disease lies at the DNA level.