Arrhythmogenic inherited heart muscle diseases in children.

Jeffrey Towbin, N. E. Bowles

Research output: Contribution to journalReview article

14 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, leading to the need for therapeutic intervention. Therapy for these patients include anticongestive medications and, in some, placement of devices such as aortic balloon pump or left ventricular assist device, or cardiac transplantation. In the majority of patients the origin is unknown, leading to the term idiopathic dilated cardiomyopathy. During the past decade, the basis of LV dysfunction has begun to unravel. In approximately 30% to 40% of cases, the disorder is inherited; autosomal dominant inheritance is most common (although X-linked, autosomal recessive and mitochondrial 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, the genetic basis is beginning to unfold. To date, 2 genes for X-linked familial dilated cardiomyopathy (dystrophin, G4.5) have been identified and 4 genes for the autosomal dominant form (actin, desmin, lamin A/C, delta-sarcoglycan) have been described. In 1 form of inflammatory heart disease, coxsackievirus myocarditis, inflammatory mediators, and dystrophin cleavage play a role in the development of LV dysfunction. This review describes the molecular genetics of LV dysfunction and provide evidence for a "final common pathway" responsible for the phenotype.

Original languageEnglish (US)
Pages (from-to)151-165
Number of pages15
JournalJournal of Electrocardiology
Volume34 Suppl
Issue number4
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

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Heart Ventricles
Heart Diseases
Myocardium
Dystrophin
Sarcoglycans
Lamin Type A
Dominant Genes
Heart-Assist Devices
Desmin
Mitochondrial Genes
Enterovirus
Myocarditis
Dilated Cardiomyopathy
Heart Transplantation
Signs and Symptoms
Actins
Molecular Biology
Heart Failure
Phenotype
Equipment and Supplies

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Arrhythmogenic inherited heart muscle diseases in children. / Towbin, Jeffrey; Bowles, N. E.

In: Journal of Electrocardiology, Vol. 34 Suppl, No. 4, 01.01.2001, p. 151-165.

Research output: Contribution to journalReview article

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