Letter to the Editor
Acute heart failure from noncompaction requiring emergency heart transplantation
Insuficiência cardíaca aguda associada a não compactação requerendo transplantação cardíaca emergente
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Casadei, João Manoel Rossi Neto" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Rafael Alexandre" "apellidos" => "Meneguz-Moreno" ] 1 => array:2 [ "nombre" => "Marco Aurélio" "apellidos" => "Finger" ] 2 => array:2 [ "nombre" => "Carolina" "apellidos" => "Casadei" ] 3 => array:2 [ "nombre" => "João Manoel" "apellidos" => "Rossi Neto" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2174204916301386" "doi" => "10.1016/j.repce.2016.08.001" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204916301386?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0870255116301445?idApp=UINPBA00004E" "url" => "/08702551/0000003500000009/v1_201608170044/S0870255116301445/v1_201608170044/en/main.assets" ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Acute heart failure from noncompaction requiring emergency heart transplantation" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "507" "paginaFinal" => "508" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Josef Finsterer, Sinda Zarrouk-Mahjoub" "autores" => array:2 [ 0 => array:4 [ "nombre" => "Josef" "apellidos" => "Finsterer" "email" => array:1 [ 0 => "fifigs1@yahoo.de" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Sinda" "apellidos" => "Zarrouk-Mahjoub" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Krankenanstalt Rudolfstiftung, Vienna, Austria" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Genomics Platform, Pasteur Institute of Tunis, Tunisia" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Insuficiência cardíaca aguda associada a não compactação requerendo transplantação cardíaca emergente" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">It was with interest that we read the article by Meneguz-Moreno et al. about a 14-year-old Caucasian girl with left ventricular hypertrabeculation/noncompaction (LVHT/NC) who developed sudden onset heart failure and had to undergo emergency heart transplantation (HTX) because of intractable heart failure.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> We have the following comments and concerns.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Since the father of the index patient had cardiomyopathy, it is quite likely that he had undergone echocardiography.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Were these echocardiograms reviewed and was LVHT/NC detected in the father as well? Was the father's history positive for ischemic stroke, atrial fibrillation, heart failure, ventricular arrhythmias, or even epilepsy, as in his daughter? What type of cardiomyopathy was diagnosed and what was the cause? Did any other family member also develop cardiomyopathy, heart failure, arrhythmias, or cardioembolism?</p><p id="par0015" class="elsevierStylePara elsevierViewall">The index patient is reported to have developed seizures.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> What type of seizures did she develop? What was the frequency of these seizures? What were the results of the EEGs? What were the findings on cerebral MRI? What was the cause of seizures? Were they attributed to cerebral hypoxia because of cerebral hypoperfusion due to acute heart failure? Did the girl ever experience a juvenile stroke from cardioembolism? Was atrial fibrillation ever recorded on the ECG? Were intracardiac thrombi detected? What measures were taken to control seizures? What type of antiepileptic drugs (AEDs) were prescribed? Were thrombocytopenia and hepatopathy attributable to side-effects of the AED medication?</p><p id="par0020" class="elsevierStylePara elsevierViewall">LVHT/NC is frequently associated with genetic disorders but a causal relation has never been proven. Furthermore, LVHT/NC is associated not only with disorders due to mutations in genes such as <span class="elsevierStyleItalic">G4.5</span>, <span class="elsevierStyleItalic">PRDM16</span>, <span class="elsevierStyleItalic">TNNT2</span>, <span class="elsevierStyleItalic">LDB3</span>, <span class="elsevierStyleItalic">MYBPC3</span>, <span class="elsevierStyleItalic">MYH7</span>, <span class="elsevierStyleItalic">ACTC1</span>, <span class="elsevierStyleItalic">TPM1</span>, <span class="elsevierStyleItalic">MIB1</span>, or <span class="elsevierStyleItalic">DTNA</span>, but also with mutations in a number of other genes.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a> There are also reports of an association of LVHT/NC with chromosomal defects.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> Concerning the <span class="elsevierStyleItalic">G4.5</span> mutation, it should be noted that this gene is the same as the taffazin gene (<span class="elsevierStyleItalic">TAZ</span>). Mutations in <span class="elsevierStyleItalic">TAZ</span> (<span class="elsevierStyleItalic">G4.5</span>) cause Barth syndrome, an X-linked disorder, in which up to half of patients present with LVHT/NC.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The authors regard LVHT/NC as a congenital abnormality.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Though this is presumably true in the majority of cases, there are also reports showing that LVHT/NC can develop after birth (acquired LVHT/NC).<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> This is particularly the case for patients with neuromuscular disorders (NMDs),<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> pregnant women,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> and professional athletes.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> Acquired LVHT/NC is regarded as a mechanism for compensating systolic dysfunction or for improving blood oxygenation.</p><p id="par0030" class="elsevierStylePara elsevierViewall">LVHT/NC is associated with NMDs in up to 80% of cases.<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? Did she or any of her relatives complain of easy fatigability, exercise intolerance, muscle cramps, muscle wasting, muscle weakness or myotonia, or was there hyperCKemia? Did any have a history of adverse reactions to general anesthesia?</p><p id="par0035" class="elsevierStylePara elsevierViewall">LVHT/NC is frequently associated with myocardial fibrosis, as demonstrated by the presence of late gadolinium enhancement on cardiac MRI.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a> Did investigation of the explanted heart show subendocardial, mid-myocardial, or subepicardial fibrosis? Was there any indication of subendocardial fibroelastosis?</p><p id="par0040" class="elsevierStylePara elsevierViewall">Was the patient followed up after transplantation? Did she develop LVHT/NC in the transplanted heart also? This is an unresolved issue if there is LVHT/NC in the transplanted heart. So far, more than 50 patients with LVHT/NC have undergone HTX, but in none of them have long-term follow-up investigations been carried out to address this question.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Overall, this interesting case requires a more thorough individual and family history, work-up for NMD or a chromosomal defect in the index patient and her relatives, and screening for LVHT/NC in other family members.</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.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Isolated left ventricular noncompaction causing refractory heart failure" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "R.A. 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| 2022 Novembro | 40 | 25 | 65 |
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