Letter - Clinical
Cardiac rhabdomyomas as prenatal diagnostic markers of tuberous sclerosis complex
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Clinical</span>" "titulo" => "Cardiac rhabdomyomas as prenatal diagnostic markers of tuberous sclerosis complex" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "843" "paginaFinal" => "845" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Virginia Ruth Lopez Gamboa, Mariel Giovo, Victor Francucci" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Virginia Ruth Lopez" "apellidos" => "Gamboa" "email" => array:1 [ 0 => "virlopezg.vl@gmail.com" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Mariel" "apellidos" => "Giovo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Victor" "apellidos" => "Francucci" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Departmente of Dermatology, Collegiate Sanatorium, CABA, Argentina" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Department of Dermatology, Holy Trinity Children's Hospital, Cordoba, Argentina" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Dermatology, Neonatal Maternal Hospital, “Minister Dr. Ramon Carrillo”, Cordoba, Argentina" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Private practice, Buenos Aires, Argentina" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1390 "Ancho" => 1675 "Tamanyo" => 192686 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Case B´s mother shows multiple hamartomas of the face</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Tuberous Sclerosis Complex (TSC) is a rare genetic neurocutaneous syndrome, with a frequency of 1/6,000‒10,000 live births, characterized by hamartomas and multiple skin manifestations.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Adequate diagnosis is challenging, therefore the TSC Alliance<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> convened on criteria, which include cardiac rhabdomyomas, a type of hamartomas, as a main diagnostic feature.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> These tumors are diagnosed via ultrasound during the second and third trimester, correlating with TSC in 70%–90% of the cases.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">The authors present three male patients with a prenatal diagnosis of cardiac rhabdomyomas and postnatal confirmation of TSC. Dermatologic examination of all patients revealed multiple hypopigmented macules in the trunk and scalp (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), more evident under Wood’s lamp (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Patient A had no family history of TSC and presented fetal arrhythmia caused by multiple cardiac tumors located in the left ventricle, which regressed during the first year of life. Patient B presented a fetal asymptomatic solitary rhabdomyoma, which also regressed during the first year. In this case, the authors noticed his mother had multiple hamartomas of the face (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>) so after further examination, she was also diagnosed with TSC. Patient C had three cardiac rhabdomyomas diagnosed in the third trimester causing cardiac flow obstruction. Three months after birth, he was admitted due to seizures, which led to the confirmation of tuberous tumors in the brain and retinal hamartomas. Despite medical efforts, he had a fatal outcome. The diagnosis of TSC in all patients was based on two major clinical criteria:<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> hypomelanotic macules (≥3, at least 5<span class="elsevierStyleHsp" style=""></span>mm in diameter) and cardiac rhabdomyomas.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Cardiac rhabdomyomas are the most frequent childhood primary heart tumors in the general population.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Despite their benign nature, they may cause complications such as arrhythmias, outflow obstruction, pericardial effusion, cardiac compression, and fetal hydrops. TSC should be suspected when multiple, clearly demarcated, hyperechoic ovoid tumors are found. The most frequent location is the interventricular septum. If possible, searching for hamartomas in other locations with fetal MRI is suggested.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,5</span></a> Also, genetic testing assessment of three generations, along with a thorough dermatologic exam of relatives is indicated. When performed, a histological description of the tumors presents myocytes containing high quantities of glycogen, known as spider cells.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Fetal prognosis is dependent on effective intrauterine monitoring and an adequate birth plan. Up to 85% of the cases do not need medical or surgical treatment since most have partial or complete regression from birth to adolescence.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> While skin findings might not be evident at birth, periodic dermatology consults are required in the search for angiofibromas, ungueal fibromas, hypomelanotic macules and/or Shagreen patch.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> These cases exemplify the importance of identifying rhabdomyomas, to help prepare for postnatal care, counsel parents and through adequate family history, identify affected relatives<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a> of this rare neurocutaneous syndrome.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0025" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors' contributions</span><p id="par0030" class="elsevierStylePara elsevierViewall">Virginia Ruth Lopez Gamboa: Approval of the final version of the manuscript; critical literature review; data collection, analysis, and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic management of studied cases; manuscript critical review; preparation and writing of the manuscript; study conception and planning.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mariel Giovo: Approval of the final version of the manuscript; critical literature review; data collection, analysis, and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic management of studied cases; manuscript critical review; study conception and planning.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Victor Francucci: Approval of the final version of the manuscript; data collection, analysis, and interpretation; effective participation in research orientation; manuscript critical review.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Financial support" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Authors' contributions" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflicts of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2021-08-31" "fechaAceptado" => "2021-10-05" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Study conducted at the Neonatal Maternal Hospital “Minister Dr. Ramon Carrillo”, Cordoba, Argentina.</p>" ] ] "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1474 "Ancho" => 3341 "Tamanyo" => 357811 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A‒I) Clinical images at physical examination, under Wood´s lamp and sonographic imaging of cardiac rhabdomyomas of each case</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1390 "Ancho" => 1675 "Tamanyo" => 192686 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Case B´s mother shows multiple hamartomas of the face</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Antenatal screening, and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "X. 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| 2024 September | 148 | 75 | 223 |
| 2024 August | 161 | 109 | 270 |
| 2024 July | 139 | 113 | 252 |
| 2024 June | 121 | 68 | 189 |
| 2024 May | 129 | 64 | 193 |
| 2024 April | 102 | 89 | 191 |
| 2024 March | 83 | 66 | 149 |
| 2024 February | 100 | 86 | 186 |
| 2024 January | 113 | 63 | 176 |
| 2023 December | 607 | 83 | 690 |
| 2023 November | 192 | 111 | 303 |
| 2023 October | 193 | 98 | 291 |
| 2023 September | 62 | 82 | 144 |
| 2023 August | 47 | 32 | 79 |
| 2023 July | 29 | 25 | 54 |
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