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        "titulo" => "Insufici&#234;ncia card&#237;aca aguda associada a n&#227;o compacta&#231;&#227;o requerendo transplanta&#231;&#227;o card&#237;aca emergente"
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">It was with interest that we read the article by Meneguz-Moreno et al&#46; about a 14-year-old Caucasian girl with left ventricular hypertrabeculation&#47;noncompaction &#40;LVHT&#47;NC&#41; who developed sudden onset heart failure and had to undergo emergency heart transplantation &#40;HTX&#41; because of intractable heart failure&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> We have the following comments and concerns&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Since the father of the index patient had cardiomyopathy&#44; it is quite likely that he had undergone echocardiography&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Were these echocardiograms reviewed and was LVHT&#47;NC detected in the father as well&#63; Was the father&#39;s history positive for ischemic stroke&#44; atrial fibrillation&#44; heart failure&#44; ventricular arrhythmias&#44; or even epilepsy&#44; as in his daughter&#63; What type of cardiomyopathy was diagnosed and what was the cause&#63; Did any other family member also develop cardiomyopathy&#44; heart failure&#44; arrhythmias&#44; or cardioembolism&#63;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The index patient is reported to have developed seizures&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> What type of seizures did she develop&#63; What was the frequency of these seizures&#63; What were the results of the EEGs&#63; What were the findings on cerebral MRI&#63; What was the cause of seizures&#63; Were they attributed to cerebral hypoxia because of cerebral hypoperfusion due to acute heart failure&#63; Did the girl ever experience a juvenile stroke from cardioembolism&#63; Was atrial fibrillation ever recorded on the ECG&#63; Were intracardiac thrombi detected&#63; What measures were taken to control seizures&#63; What type of antiepileptic drugs &#40;AEDs&#41; were prescribed&#63; Were thrombocytopenia and hepatopathy attributable to side-effects of the AED medication&#63;</p><p id="par0020" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is frequently associated with genetic disorders but a causal relation has never been proven&#46; Furthermore&#44; LVHT&#47;NC is associated not only with disorders due to mutations in genes such as <span class="elsevierStyleItalic">G4&#46;5</span>&#44; <span class="elsevierStyleItalic">PRDM16</span>&#44; <span class="elsevierStyleItalic">TNNT2</span>&#44; <span class="elsevierStyleItalic">LDB3</span>&#44; <span class="elsevierStyleItalic">MYBPC3</span>&#44; <span class="elsevierStyleItalic">MYH7</span>&#44; <span class="elsevierStyleItalic">ACTC1</span>&#44; <span class="elsevierStyleItalic">TPM1</span>&#44; <span class="elsevierStyleItalic">MIB1</span>&#44; or <span class="elsevierStyleItalic">DTNA</span>&#44; but also with mutations in a number of other genes&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a> There are also reports of an association of LVHT&#47;NC with chromosomal defects&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> Concerning the <span class="elsevierStyleItalic">G4&#46;5</span> mutation&#44; it should be noted that this gene is the same as the taffazin gene &#40;<span class="elsevierStyleItalic">TAZ</span>&#41;&#46; Mutations in <span class="elsevierStyleItalic">TAZ</span> &#40;<span class="elsevierStyleItalic">G4&#46;5</span>&#41; cause Barth syndrome&#44; an X-linked disorder&#44; in which up to half of patients present with LVHT&#47;NC&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The authors regard LVHT&#47;NC as a congenital abnormality&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Though this is presumably true in the majority of cases&#44; there are also reports showing that LVHT&#47;NC can develop after birth &#40;acquired LVHT&#47;NC&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> This is particularly the case for patients with neuromuscular disorders &#40;NMDs&#41;&#44;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> pregnant women&#44;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> and professional athletes&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> Acquired LVHT&#47;NC is regarded as a mechanism for compensating systolic dysfunction or for improving blood oxygenation&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is associated with NMDs in up to 80&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">8</span></a> Were there clinical or laboratory indications of an NMD in the index case or any of her relatives&#63; Did she or any of her relatives complain of easy fatigability&#44; exercise intolerance&#44; muscle cramps&#44; muscle wasting&#44; muscle weakness or myotonia&#44; or was there hyperCKemia&#63; Did any have a history of adverse reactions to general anesthesia&#63;</p><p id="par0035" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is frequently associated with myocardial fibrosis&#44; as demonstrated by the presence of late gadolinium enhancement on cardiac MRI&#46;<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a> Did investigation of the explanted heart show subendocardial&#44; mid-myocardial&#44; or subepicardial fibrosis&#63; Was there any indication of subendocardial fibroelastosis&#63;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Was the patient followed up after transplantation&#63; Did she develop LVHT&#47;NC in the transplanted heart also&#63; This is an unresolved issue if there is LVHT&#47;NC in the transplanted heart&#46; So far&#44; more than 50 patients with LVHT&#47;NC have undergone HTX&#44; but in none of them have long-term follow-up investigations been carried out to address this question&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Overall&#44; this interesting case requires a more thorough individual and family history&#44; work-up for NMD or a chromosomal defect in the index patient and her relatives&#44; and screening for LVHT&#47;NC in other family members&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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Letter to the Editor
Acute heart failure from noncompaction requiring emergency heart transplantation
Insuficiência cardíaca aguda associada a não compactação requerendo transplantação cardíaca emergente
Josef Finsterera,
Corresponding author
fifigs1@yahoo.de

Corresponding author.
, Sinda Zarrouk-Mahjoubb
a Krankenanstalt Rudolfstiftung, Vienna, Austria
b Genomics Platform, Pasteur Institute of Tunis, Tunisia
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What measures were taken to control seizures&#63; What type of antiepileptic drugs &#40;AEDs&#41; were prescribed&#63; Were thrombocytopenia and hepatopathy attributable to side-effects of the AED medication&#63;</p><p id="par0020" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is frequently associated with genetic disorders but a causal relation has never been proven&#46; Furthermore&#44; LVHT&#47;NC is associated not only with disorders due to mutations in genes such as <span class="elsevierStyleItalic">G4&#46;5</span>&#44; <span class="elsevierStyleItalic">PRDM16</span>&#44; <span class="elsevierStyleItalic">TNNT2</span>&#44; <span class="elsevierStyleItalic">LDB3</span>&#44; <span class="elsevierStyleItalic">MYBPC3</span>&#44; <span class="elsevierStyleItalic">MYH7</span>&#44; <span class="elsevierStyleItalic">ACTC1</span>&#44; <span class="elsevierStyleItalic">TPM1</span>&#44; <span class="elsevierStyleItalic">MIB1</span>&#44; or <span class="elsevierStyleItalic">DTNA</span>&#44; but also with mutations in a number of other genes&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a> There are also reports of an association of LVHT&#47;NC with chromosomal defects&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> Concerning the <span class="elsevierStyleItalic">G4&#46;5</span> mutation&#44; it should be noted that this gene is the same as the taffazin gene &#40;<span class="elsevierStyleItalic">TAZ</span>&#41;&#46; Mutations in <span class="elsevierStyleItalic">TAZ</span> &#40;<span class="elsevierStyleItalic">G4&#46;5</span>&#41; cause Barth syndrome&#44; an X-linked disorder&#44; in which up to half of patients present with LVHT&#47;NC&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The authors regard LVHT&#47;NC as a congenital abnormality&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Though this is presumably true in the majority of cases&#44; there are also reports showing that LVHT&#47;NC can develop after birth &#40;acquired LVHT&#47;NC&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> This is particularly the case for patients with neuromuscular disorders &#40;NMDs&#41;&#44;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> pregnant women&#44;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> and professional athletes&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> Acquired LVHT&#47;NC is regarded as a mechanism for compensating systolic dysfunction or for improving blood oxygenation&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is associated with NMDs in up to 80&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">8</span></a> Were there clinical or laboratory indications of an NMD in the index case or any of her relatives&#63; Did she or any of her relatives complain of easy fatigability&#44; exercise intolerance&#44; muscle cramps&#44; muscle wasting&#44; muscle weakness or myotonia&#44; or was there hyperCKemia&#63; Did any have a history of adverse reactions to general anesthesia&#63;</p><p id="par0035" class="elsevierStylePara elsevierViewall">LVHT&#47;NC is frequently associated with myocardial fibrosis&#44; as demonstrated by the presence of late gadolinium enhancement on cardiac MRI&#46;<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a> Did investigation of the explanted heart show subendocardial&#44; mid-myocardial&#44; or subepicardial fibrosis&#63; Was there any indication of subendocardial fibroelastosis&#63;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Was the patient followed up after transplantation&#63; Did she develop LVHT&#47;NC in the transplanted heart also&#63; This is an unresolved issue if there is LVHT&#47;NC in the transplanted heart&#46; So far&#44; more than 50 patients with LVHT&#47;NC have undergone HTX&#44; but in none of them have long-term follow-up investigations been carried out to address this question&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Overall&#44; this interesting case requires a more thorough individual and family history&#44; work-up for NMD or a chromosomal defect in the index patient and her relatives&#44; and screening for LVHT&#47;NC in other family members&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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Article information
ISSN: 21742049
Original language: English
DOI:10.1016/j.repce.2016.03.009
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