Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals

Steven B. Bleyl, Brian R. Mumford, Mary Carole Brown-Harrison, Luciana T. Pagotto, John C. Carey, Theodore J. Pysher, Kenneth Ward, Thomas K. Chin

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276 Citations (Scopus)

Abstract

Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance of this trait. Affected relatives presented postnatally with left ventricular failure and arrhythmias, associated with the pathognomonic echocardiographic findings of INVM. The usual findings of Barth syndrome (neutropenia, growth retardation, elevated urinary organic acids, low carnitine levels, and mitochondrial abnormalities) were either absent or found inconsistently. Fetal echocardiograms obtained between 24-30 weeks of gestation in 3 of the affected males showed a dilated left ventricle in one heart, but were not otherwise diagnostic of INVM in any of the cases. Four of the affected individuals died during infancy, one is in cardiac failure at age 8 months, and one is alive following cardiac transplant at age 9 months. The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. Histologically, there were loosely organized fascicles of myocytes in subepicardial and midmyocardial zones of both ventricles, and the myocytes showed thin, often angulated fibers with prominent central clearing and reduced numbers of filaments. Markedly elongated mitochondria were present in some ventricular myocytes from one specimen, but this finding was not reproducible. Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.

Original languageEnglish (US)
Pages (from-to)257-265
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume72
Issue number3
DOIs
StatePublished - Oct 31 1997

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Isolated Noncompaction of the Ventricular Myocardium
Prenatal Diagnosis
Myocardium
Muscle Cells
Heart Ventricles
Barth Syndrome
Endocardial Fibroelastosis
X-Linked Genes
Genetic Linkage
Carnitine
Muscular Diseases
Neutropenia
Cardiac Arrhythmias
Mitochondria
Heart Failure
Transplantation
Transplants
Pregnancy
Acids
Growth

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Bleyl, Steven B. ; Mumford, Brian R. ; Brown-Harrison, Mary Carole ; Pagotto, Luciana T. ; Carey, John C. ; Pysher, Theodore J. ; Ward, Kenneth ; Chin, Thomas K. / Xq28-linked noncompaction of the left ventricular myocardium : Prenatal diagnosis and pathologic analysis of affected individuals. In: American Journal of Medical Genetics. 1997 ; Vol. 72, No. 3. pp. 257-265.
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Xq28-linked noncompaction of the left ventricular myocardium : Prenatal diagnosis and pathologic analysis of affected individuals. / Bleyl, Steven B.; Mumford, Brian R.; Brown-Harrison, Mary Carole; Pagotto, Luciana T.; Carey, John C.; Pysher, Theodore J.; Ward, Kenneth; Chin, Thomas K.

In: American Journal of Medical Genetics, Vol. 72, No. 3, 31.10.1997, p. 257-265.

Research output: Contribution to journalArticle

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T1 - Xq28-linked noncompaction of the left ventricular myocardium

T2 - Prenatal diagnosis and pathologic analysis of affected individuals

AU - Bleyl, Steven B.

AU - Mumford, Brian R.

AU - Brown-Harrison, Mary Carole

AU - Pagotto, Luciana T.

AU - Carey, John C.

AU - Pysher, Theodore J.

AU - Ward, Kenneth

AU - Chin, Thomas K.

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N2 - Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance of this trait. Affected relatives presented postnatally with left ventricular failure and arrhythmias, associated with the pathognomonic echocardiographic findings of INVM. The usual findings of Barth syndrome (neutropenia, growth retardation, elevated urinary organic acids, low carnitine levels, and mitochondrial abnormalities) were either absent or found inconsistently. Fetal echocardiograms obtained between 24-30 weeks of gestation in 3 of the affected males showed a dilated left ventricle in one heart, but were not otherwise diagnostic of INVM in any of the cases. Four of the affected individuals died during infancy, one is in cardiac failure at age 8 months, and one is alive following cardiac transplant at age 9 months. The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. Histologically, there were loosely organized fascicles of myocytes in subepicardial and midmyocardial zones of both ventricles, and the myocytes showed thin, often angulated fibers with prominent central clearing and reduced numbers of filaments. Markedly elongated mitochondria were present in some ventricular myocytes from one specimen, but this finding was not reproducible. Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.

AB - Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance of this trait. Affected relatives presented postnatally with left ventricular failure and arrhythmias, associated with the pathognomonic echocardiographic findings of INVM. The usual findings of Barth syndrome (neutropenia, growth retardation, elevated urinary organic acids, low carnitine levels, and mitochondrial abnormalities) were either absent or found inconsistently. Fetal echocardiograms obtained between 24-30 weeks of gestation in 3 of the affected males showed a dilated left ventricle in one heart, but were not otherwise diagnostic of INVM in any of the cases. Four of the affected individuals died during infancy, one is in cardiac failure at age 8 months, and one is alive following cardiac transplant at age 9 months. The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. Histologically, there were loosely organized fascicles of myocytes in subepicardial and midmyocardial zones of both ventricles, and the myocytes showed thin, often angulated fibers with prominent central clearing and reduced numbers of filaments. Markedly elongated mitochondria were present in some ventricular myocytes from one specimen, but this finding was not reproducible. Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.

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