Left ventricular apical hypoplasia associated with lamin A/C gene mutation: A new phenotype of laminopathy?

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1 Citation (Scopus)

Abstract

Isolated left ventricular (LV) apical hypoplasia is a rare anomaly characterized by a dysfunctioning, spherical left ventricle and elongated right ventricle wrapping around the deficient LV apex. The etiology is unknown; it is presumed to be a rare congenital developmental defect during partitioning of the ventricles, caused by an in-utero infection. We describe for the first time a case of isolated LV apical hypoplasia associated with lamin A/C gene mutation. Echocardiography showed a mildly dilated left ventricle with spherical configuration and impaired systolic function, and an elongated right ventricle wrapping around the deficient LV apex. Magnetic resonance imaging also identified fatty replacement of the LV apical myocardium. Late gadolinium enhancement imaging showed mid-wall fibrosis in the interventricular septum. Family screening by ECG and echocardiography failed to identify heart disease in the patient's family; however, the proband's father and daughter were found to carry the same mutation. This case report highlights the difficulties of a correct interpretation of genetic mutations in a single patient with cardiomyopathy. Indeed, the causative role of a mutation needs to be confirmed by co-segregation analysis. Although the etiology of LV apical hypoplasia remains unknown, the first hypothesis is an acquired process interfering with the early development of the heart, the new one is a genetic defect.

Translated title of the contributionLeft ventricular apical hypoplasia associated with lamin A/C gene mutation: A new phenotype of laminopathy?
Original languageItalian
Pages (from-to)717-719
Number of pages3
JournalGiornale Italiano di Cardiologia
Volume15
Issue number12
Publication statusPublished - Dec 1 2014

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Lamin Type A
Heart Ventricles
Phenotype
Mutation
Genes
Echocardiography
Gadolinium
Nuclear Family
Cardiomyopathies
Fathers
Heart Diseases
Myocardium
Electrocardiography
Fibrosis
Magnetic Resonance Imaging
Infection

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Medicine(all)

Cite this

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title = "Mutazione del gene per la lamina A/C associata a ipoplasia apicale del ventricolo sinistro: Un nuovo fenotipo di laminopatia?",
abstract = "Isolated left ventricular (LV) apical hypoplasia is a rare anomaly characterized by a dysfunctioning, spherical left ventricle and elongated right ventricle wrapping around the deficient LV apex. The etiology is unknown; it is presumed to be a rare congenital developmental defect during partitioning of the ventricles, caused by an in-utero infection. We describe for the first time a case of isolated LV apical hypoplasia associated with lamin A/C gene mutation. Echocardiography showed a mildly dilated left ventricle with spherical configuration and impaired systolic function, and an elongated right ventricle wrapping around the deficient LV apex. Magnetic resonance imaging also identified fatty replacement of the LV apical myocardium. Late gadolinium enhancement imaging showed mid-wall fibrosis in the interventricular septum. Family screening by ECG and echocardiography failed to identify heart disease in the patient's family; however, the proband's father and daughter were found to carry the same mutation. This case report highlights the difficulties of a correct interpretation of genetic mutations in a single patient with cardiomyopathy. Indeed, the causative role of a mutation needs to be confirmed by co-segregation analysis. Although the etiology of LV apical hypoplasia remains unknown, the first hypothesis is an acquired process interfering with the early development of the heart, the new one is a genetic defect.",
author = "Silvia Pica and Stefano Ghio and Claudia Raineri and Laura Scelsi and Annalisa Turco and Visconti, {Luigi Oltrona}",
year = "2014",
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journal = "Giornale Italiano di Cardiologia",
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T2 - Un nuovo fenotipo di laminopatia?

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AU - Ghio, Stefano

AU - Raineri, Claudia

AU - Scelsi, Laura

AU - Turco, Annalisa

AU - Visconti, Luigi Oltrona

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N2 - Isolated left ventricular (LV) apical hypoplasia is a rare anomaly characterized by a dysfunctioning, spherical left ventricle and elongated right ventricle wrapping around the deficient LV apex. The etiology is unknown; it is presumed to be a rare congenital developmental defect during partitioning of the ventricles, caused by an in-utero infection. We describe for the first time a case of isolated LV apical hypoplasia associated with lamin A/C gene mutation. Echocardiography showed a mildly dilated left ventricle with spherical configuration and impaired systolic function, and an elongated right ventricle wrapping around the deficient LV apex. Magnetic resonance imaging also identified fatty replacement of the LV apical myocardium. Late gadolinium enhancement imaging showed mid-wall fibrosis in the interventricular septum. Family screening by ECG and echocardiography failed to identify heart disease in the patient's family; however, the proband's father and daughter were found to carry the same mutation. This case report highlights the difficulties of a correct interpretation of genetic mutations in a single patient with cardiomyopathy. Indeed, the causative role of a mutation needs to be confirmed by co-segregation analysis. Although the etiology of LV apical hypoplasia remains unknown, the first hypothesis is an acquired process interfering with the early development of the heart, the new one is a genetic defect.

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