Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance

Elisabetta Zachara, Enrico Bertini, Ernesto Lioy, Renata Boldrini, Pier Luigi Prati, Cesare Bosman

Research output: Contribution to journalArticle

Abstract

OBJECTIVE. A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described. BACKGROUND. Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle. METHODS. Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient. RESULTS. The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus. CONCLUSIONS. The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.

Original languageEnglish
Pages (from-to)436-442
Number of pages7
JournalGiornale Italiano di Cardiologia
Volume27
Issue number5
Publication statusPublished - May 1997

Fingerprint

Restrictive Cardiomyopathy
Desmin
Electrocardiography
Syncope
Heart Failure
Mothers
Purkinje Fibers
Bundle-Branch Block
Intermediate Filaments
Vertigo
Heart Transplantation
Pedigree
Cardiac Catheterization
Informed Consent
Nuclear Family
Craniocerebral Trauma
Smooth Muscle
Siblings
Myocardium
Biopsy

Keywords

  • Desmin
  • Familial cardiomyopathy
  • Restrictive cardiomyopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance. / Zachara, Elisabetta; Bertini, Enrico; Lioy, Ernesto; Boldrini, Renata; Prati, Pier Luigi; Bosman, Cesare.

In: Giornale Italiano di Cardiologia, Vol. 27, No. 5, 05.1997, p. 436-442.

Research output: Contribution to journalArticle

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abstract = "OBJECTIVE. A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described. BACKGROUND. Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle. METHODS. Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient. RESULTS. The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus. CONCLUSIONS. The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.",
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AU - Zachara, Elisabetta

AU - Bertini, Enrico

AU - Lioy, Ernesto

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AU - Prati, Pier Luigi

AU - Bosman, Cesare

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N2 - OBJECTIVE. A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described. BACKGROUND. Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle. METHODS. Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient. RESULTS. The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus. CONCLUSIONS. The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.

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