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Cardiogenetics
Volume 2
Issue 1
10.4081/cardiogenetics.2012.e8
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

An Unusual Case of Familial Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: A Still Unsolved Diagnosis

by
Elena Biagini
1,*,
Chiara Pazzi
1,
Stefania Rosmini
1,
Ornella Leone
2,
Domenico A. Coviello
3 and
Claudio Rapezzi
1
1
Institute of Cardiology, S. Orsola-Malpighi University Hospital, Bologna
2
Department of Pathology, S. Orsola-Malpighi University Hospital, Bologna
3
Human Genetic Laboratory, Galliera Hospital, Genoa
*
Author to whom correspondence should be addressed.
Cardiogenetics 2012, 2(1), e8; https://doi.org/10.4081/cardiogenetics.2012.e8
Submission received: 17 May 2012 / Revised: 2 July 2012 / Accepted: 4 July 2012 / Published: 1 August 2012

Abstract

A 35-year-old woman was referred to our centre for clinical management of hypertrophic cardiomyopathy (HCM) with left ventricular (LV) systolic dysfunction (end-stage evolution). She was recently diagnosed elsewhere because of palpitations. Her 7-year-old daughter underwent familiar screening and she was diagnosed with classic HCM. She was completely asymptomatic without extracardiac or systemic manifestations. During the following years, they both experienced a similar clinical course with worsening dyspnoea and progressive deterioration of LV systolic function. They both underwent heart transplantation, the mother at the age of 47 and the daughter at the age of 23, respectively. Many diagnostic hypotheses, including sarcomeric HCM, Anderson-Fabry disease, glycogen storage diseases and mitochondrial cardiomyopathies have been taken into account. The diagnostic work-up included serial electrocardiogram and echocardiographic assessments, pathologic evaluation of the explanted hearts and genetic analysis of 8 sarcomeric and 3 metabolic genes. Even if a shared HCM phenotype (LV systolic dysfunction in two first-degree female family members associated with a likely autosomal dominant inheritance and absence of extracardiac or multisystemic manifestations) could support a temptative diagnosis of sarcomeric HCM, a definitive diagnosis could not be reached, due to the lack of genetic analysis to confirm such diagnosis.
Keywords: education; familial hypertrophic cardiomyopathy phenotype; left ventricular systolic dysfunction; extensive myocardial fibrosis; cardiogenetics education; familial hypertrophic cardiomyopathy phenotype; left ventricular systolic dysfunction; extensive myocardial fibrosis; cardiogenetics

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MDPI and ACS Style

Biagini, E.; Pazzi, C.; Rosmini, S.; Leone, O.; Coviello, D.A.; Rapezzi, C. An Unusual Case of Familial Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: A Still Unsolved Diagnosis. Cardiogenetics 2012, 2, e8. https://doi.org/10.4081/cardiogenetics.2012.e8

AMA Style

Biagini E, Pazzi C, Rosmini S, Leone O, Coviello DA, Rapezzi C. An Unusual Case of Familial Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: A Still Unsolved Diagnosis. Cardiogenetics. 2012; 2(1):e8. https://doi.org/10.4081/cardiogenetics.2012.e8

Chicago/Turabian Style

Biagini, Elena, Chiara Pazzi, Stefania Rosmini, Ornella Leone, Domenico A. Coviello, and Claudio Rapezzi. 2012. "An Unusual Case of Familial Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: A Still Unsolved Diagnosis" Cardiogenetics 2, no. 1: e8. https://doi.org/10.4081/cardiogenetics.2012.e8

APA Style

Biagini, E., Pazzi, C., Rosmini, S., Leone, O., Coviello, D. A., & Rapezzi, C. (2012). An Unusual Case of Familial Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: A Still Unsolved Diagnosis. Cardiogenetics, 2(1), e8. https://doi.org/10.4081/cardiogenetics.2012.e8

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