Familial hypertrophic cardiomyopathy: basic concepts and future molecular diagnostics.

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

BACKGROUND Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall consisting of a thick endocardial layer with prominent intertrabecular recesses with a thin, compact epicardial layer. Similar to hypertrophic and dilated cardiomyopathy, LVNC is genetically heterogeneous and was recently associated with mutations in sarcomere genes. To con...

Basic science MYOCARDIAL MOLECULAR BIOLOGY: AN INTRODUCTION

The recent publication of draft copies of the human genome sequence from both public and private sector consortia has fuelled anticipation that eventually, once all genes have been identified, we will be able to ascertain which of them are involved in human diseases, including those affecting the cardiovascular system. Understanding the molecular biology behind both inherited and acquired disor...

Genetic factors in familial hypertrophic cardiomyopathy: does molecular cardiology offer new perspectives?

Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare.

In this journal in 1958 Donald Teare reported the pathological findings in a series of eight unrelated young adults who died suddenly and who at necropsy had manifested gross asymmetrical hypertrophy of the heart.' In a footnote, he noted the recent sudden death of the brother of one of the original cases, thus identifying the familial nature of this condition. The subsequent report2 of two gen...

Molecular Diagnostics of Cardiomyopathies The Future Is Here Richard

Major advances have been made in defining the genetic basis of inherited cardiac diseases. There are now 40 cardiovascular diseases in which a genetic cause has been identified, ranging from the inherited cardiomyopathies, such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), to primary arrhythmogenic disorders, such as familial long QT syndrome.1–3 The successful identifi...