Molecular genetics of left ventricular dysfunction

Jeffrey Towbin, N. E. Bowles

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

The left ventricle (LV) plays a central role in the maintenance of health of children and adults due to its role as the major pump of the heart. In cases of LV dysfunction, a significant percentage of affected individuals develop signs and symptoms of congestive heart failure (CHF), leading to the need for therapeutic intervention. Therapy for these patients include anticongestiye medications and, in some, placement of devices such as aortic balloon pump or left ventricular assist device (LVAD), or cardiac transplantation. In the majority of patients the etiology is unknown, leading to the term idiopathic dilated cardiomyopathy (IDC). During the past decade, the basis of LV dysfunction has begun to unravel. In approximately 30-40% of cases, the disorder is inherited; autosomal dominant inheritance is most common (although X-linked, autosomal recessive and mitochondria! inheritance occurs). In the remaining patients, the disorder is presumed to be acquired, with inflammatory heart disease playing an important role. In the case of familial dilated cardiomyopathy (FDCM), the genetic basis is beginning to unfold. To date, two genes for X-linked FDCM (dystrophin, G4.5) have been identified and four genes for the autosomal dominant form (actin, desmin, lamin A/C, 5-sarcoglycan) have been described. In one form of inflammatory heart disease, coxsackievirus myocarditis, inflammatory mediators and dystrophin cleavage play a role in the development of LV dysfunction. In this review, we will describe the molecular genetics of LV dysfunction and provide evidence for a "final common pathway" responsible for the phenotype.

Original languageEnglish (US)
Pages (from-to)81-90
Number of pages10
JournalCurrent Molecular Medicine
Volume1
Issue number1
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

Fingerprint

Left Ventricular Dysfunction
Heart Ventricles
Molecular Biology
Dystrophin
Genes
Sarcoglycans
Left ventricular assist devices
Pumps
Lamin Type A
Heart Diseases
Mitochondria
Desmin
Balloons
Dominant Genes
Heart-Assist Devices
Enterovirus
Myocarditis
Dilated Cardiomyopathy
Actins
Heart Transplantation

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology

Cite this

Molecular genetics of left ventricular dysfunction. / Towbin, Jeffrey; Bowles, N. E.

In: Current Molecular Medicine, Vol. 1, No. 1, 01.01.2001, p. 81-90.

Research output: Contribution to journalArticle

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