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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The lamin A&#47;C &#40;<span class="elsevierStyleItalic">LMNA</span>&#41; gene is mapped to the long arm of chromosome 1 &#40;1q21-23&#41; and contains 12 exons&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">1</span></a> This gene encodes lamins A and C&#44; nuclear envelope proteins with an important role in nuclear cohesion and chromatin organization&#46; They are critical to the performance of the peripheral nervous system&#44; skeletal muscle&#44; osteoblastogenesis and bone formation&#44; and are also involved in the prevention of muscle fat infiltration&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">LMNA</span> gene are linked to several diseases&#44; called laminopathies&#44; which display heterogeneous phenotypes&#44; including Emery-Dreifuss muscular dystrophy&#44; limb-girdle muscular dystrophy&#44; Dunnigan-type familial partial lipodystrophy &#40;FPLD type 2&#41;&#44; Charcot-Marie-Tooth disease&#44; mandibuloacral dysplasia&#44; Hutchinson-Gilford progeria syndrome&#44; atypical forms of Werner syndrome and restrictive dermopathy&#46;<a class="elsevierStyleCrossRefs" href="#bib0105"><span class="elsevierStyleSup">2&#8211;5</span></a> Regarding cardiovascular disease&#44; the phenotype is typically dilated cardiomyopathy with conduction defects &#40;atrial arrhythmia or atrioventricular &#91;AV&#93; block&#41;&#44; progression to heart failure and a high incidence of sudden cardiac death&#46;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;6&#8211;8</span></a> There is only one case report of hypertrophic cardiomyopathy associated with mutations in this gene&#44;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">3</span></a> and other rare associations with ventricular hypertrophy&#44;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;4&#44;9</span></a> left ventricular noncompaction and arrhythmogenic right ventricular dysplasia have been described&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">10</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Disorders caused by <span class="elsevierStyleItalic">LMNA</span> mutations&#44; like FPLD type 2&#44; are also linked to metabolic abnormalities characterized by abnormal fat distribution&#44; insulin resistance&#44; diabetes&#44; dyslipidemia&#44; high blood pressure&#44; hepatic steatosis and increased risk for coronary heart disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0115"><span class="elsevierStyleSup">4&#44;5&#44;9&#44;11</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The lipodystrophic and myopathic phenotypes are thought to be mutually exclusive&#44; but in rare cases heterozygous <span class="elsevierStyleItalic">LMNA</span> mutations are associated with cardiac and skeletal muscular involvement&#46;<a class="elsevierStyleCrossRefs" href="#bib0140"><span class="elsevierStyleSup">9&#44;12&#8211;14</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">In this report we describe a new phenotype linked to a mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene&#58; hypertrophic cardiomyopathy&#44; AV block&#44; severe dyslipidemia and diabetes&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0030" class="elsevierStylePara elsevierViewall">The authors present the case of a 64-year-old woman with metabolic syndrome &#8211; obesity &#40;body mass index 30 kg&#47;m<span class="elsevierStyleSup">2</span>&#41;&#44; severe dyslipidemia &#40;fasting serum triglycerides &#91;TG&#93; 960 mg&#47;dl&#44; total cholesterol &#91;TC&#93; 273 mg&#47;dl&#44; high-density lipoprotein cholesterol 40 mg&#47;dl&#41; and diabetes &#40;HbA1c 6&#46;8&#37;&#41; &#8211; who presented in January 2013 with fatigue on minimal exertion in NYHA functional class II&#46; On cardiac auscultation&#44; a systolic murmur was audible along the upper left sternal border&#44; increasing with the Valsalva maneuver&#46; The electrocardiogram &#40;ECG&#41; revealed sinus rhythm with normal interventricular conduction&#46; 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A satisfactory final result was achieved with symptomatic improvement and gradient reduction &#40;maximum subaortic gradient of 25 mmHg at rest and 37 mmHg after the Valsalva maneuver&#44; with septal basal wall of 14&#46;2 mm&#44; measured six days after the procedure&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Several months later&#44; despite optimized medication&#44; heart failure symptoms worsened&#44; with progression of LVH &#40;basal septal wall 18&#46;3 mm&#41; and recurrence of outflow obstruction &#40;124 mmHg at rest&#41;&#46; Morrow myectomy was performed with a good final result &#40;maximum subaortic gradient of 10 mmHg after Valsalva maneuver&#41;&#46; After surgery the ECG revealed sinus rhythm and a left bundle branch block pattern&#44; with QRS duration of 160 ms&#46; The patient remained clinically stable under treatment with bisoprolol&#44; amlodipine&#44; spironolactone&#44; furosemide&#44; rosuvastatin and metformin&#46; Three months later she presented at the emergency department with seizure and worsening fatigue&#46; A pattern of complete AV block at 30 bpm was detected and a temporary transvenous cardiac pacemaker was implanted&#46; After 48 hours of bisoprolol washout&#44; the AV block pattern persisted and the patient remained pacemaker-dependent&#46; Echo evaluation showed mild LVH &#40;septal wall 12&#46;1 mm and posterior wall 12&#46;8 mm&#41;&#44; no left ventricular outflow tract obstruction&#44; paradoxical septal motion and left ventricular ejection fraction of 45&#37;&#46; Considering her history of heart failure&#44; the reduction in ejection fraction and the broad QRS complex&#44; a cardiac resynchronization device was implanted&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Regarding the metabolic disorder&#44; laboratory tests on admission revealed a fasting serum TG level of 3260 mg&#47;dl and TC of 640 mg&#47;dl&#46; Although there were no acute complications related to severe dyslipidemia&#44; in order to achieve rapid and effective lowering of TG values and to prevent complications due to hypertriglyceridemia&#44; particularly acute pancreatitis&#44; therapeutic plasma exchange was performed&#46; Treatment with lipid-lowering agents was also intensified&#44; with up-titration of rosuvastatin and addition of bezafibrate and ezetimibe&#44; and beta-blocker therapy was reintroduced&#46; The patient was discharged&#44; and at the first reassessment one month later she was asymptomatic&#44; with 100&#37; pacing capture and a significantly improved lipid profile&#46; At six-month follow-up she remained in NYHA functional class I&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">LMNA</span> gene are associated with a highly heterogeneous group of phenotypes&#46; The molecular mechanisms through which lamin A&#47;C mutations lead to such phenotypic variability are poorly understood&#46; Several hypotheses have been advocated&#44; including mechanical shearing&#44; differential gene regulation by interaction with nuclear chromatin&#44; and interaction between mutant lamins and other nuclear proteins&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">15</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Of the 12 exons composing the human <span class="elsevierStyleItalic">LMNA</span> gene&#44; exons 11 and 12 are specific for lamin A&#44; while mutations in the other exons &#40;1-10&#41; affect both variants &#40;lamin A and C&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">3</span></a> Usually&#44; mutations affecting both splice forms result in more severe phenotypes&#44; and&#44; mutations in exon 11 &#8211; affecting only the globular domain specific to the lamin A isoform &#8211; are associated with milder phenotypes regarding lipodystrophy and myopathy&#44; as was the case with this patient&#46;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;13</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Cardiac involvement with lipodystrophy has been previously associated with <span class="elsevierStyleItalic">LMNA</span> mutations&#44; but the cardiac phenotype is usually dilated cardiomyopathy associated with conduction defects&#46; In contrast&#44; our patient had a pattern of hypertrophic cardiomyopathy&#44; and conduction disturbances requiring pacemaker implantation&#46; Her systolic dysfunction &#40;as demonstrated by left ventricular ejection fraction of 45&#37;&#41;&#44; broad QRS&#44; and history of heart failure prompted the implantation of a cardiac resynchronization device&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">15</span></a> For patients with AV block and systolic dysfunction&#44; biventricular pacing not only reduces the risk of mortality and morbidity&#44; but also leads to better clinical outcomes&#44; compared with right ventricular pacing&#46;<a class="elsevierStyleCrossRef" href="#bib0175"><span class="elsevierStyleSup">16</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">The <span class="elsevierStyleItalic">LMNA</span> mutation identified in our patient &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41; was first documented in 2003 by Taylor et al&#46;<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">17</span></a> This mutation had been identified in heterozygosity in a patient with dilated cardiomyopathy and conduction defects<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">17</span></a> and in homozygosity in a patient with arthropathy&#44; tendinous calcinosis&#44; and progeroid features without any type of cardiomyopathy&#46;<a class="elsevierStyleCrossRef" href="#bib0185"><span class="elsevierStyleSup">18</span></a> Because heterozygosity for this mutation can cause cardiomyopathy without lipodystrophy or lipodystrophy without cardiomyopathy&#44; Lanktree et al&#46; suggested that additional factors&#44; genetic or environmental&#44; may contribute to the precise tissue involvement&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">19</span></a> This specific mutation has not previously been associated with hypertrophic cardiomyopathy&#46; However&#44; the significant LVH &#40;septal thickness 21 mm&#41; in the absence of other identifiable cause&#44; and the identification of a single pathogenic mutation in a sarcomere-related gene &#40;point mutation in exon 11 in the <span class="elsevierStyleItalic">LMNA</span> gene&#44; in a panel of 51 genes associated with cardiomyopathies&#41;&#44; suggested a causal association between the molecular genetic findings and the cardiac phenotype in this patient&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">In conclusion&#44; the association between <span class="elsevierStyleItalic">LMNA</span> gene mutations and different phenotypes is complex and not fully understood&#44; and can present with a broad spectrum of severity&#46; Of note&#44; the occurrence and severity of myopathic and lipoatrophic phenotypes are not related and the correlation of newly identified mutations and individual clinical phenotypes is mandatory&#46; We report a new and complex phenotype linked to a mutation in exon 11 in the <span class="elsevierStyleItalic">LMNA</span> gene &#40;c&#46;1718C&#62;T&#44; p&#46;Ser573Leu&#41; associated with hypertrophic cardiomyopathy&#44; atrioventricular block&#44; severe dyslipidemia and diabetes&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0075" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0080" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their work center on the publication of patient data&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0085" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article&#46; The corresponding author is in possession of this document&#46;</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Author contributions</span><p id="par0095" class="elsevierStylePara elsevierViewall">ARF and DB were responsible for the conception&#44; design and drafting of the article&#46; All the authors made substantial contributions to the article&#44; through data acquisition&#44; data interpretation and revision&#46; All authors gave their final approval of the version to be submitted&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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    "fechaRecibido" => "2016-04-15"
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            0 => "Hypertrophic cardiomyopathy"
            1 => "Lamin A&#47;C"
            2 => "LMNA gene"
            3 => "Dyslipidemia"
            4 => "Diabetes"
            5 => "Atrioventricular block"
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            0 => "Miocardiopatia hipertr&#243;fica"
            1 => "L&#226;mina A&#47;C"
            2 => "Gene LMNA"
            3 => "Dislipidemia"
            4 => "Diabetes"
            5 => "Bloqueio auriculoventricular"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The lamin A&#47;C &#40;<span class="elsevierStyleItalic">LMNA</span>&#41; gene encodes lamins A and C&#44; which have an important role in nuclear cohesion and chromatin organization&#46; Mutations in this gene usually lead to the so-called laminopathies&#44; the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects&#46; Some mutations&#44; associated with lipodystrophy but not cardiomyopathy&#44; have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia&#46; Herein we describe a new phenotype associated with a mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene&#58; hypertrophic cardiomyopathy&#44; atrioventricular block&#44; severe dyslipidemia and diabetes&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A 64-year-old woman with hypertrophic cardiomyopathy and a point mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41; presented with severe symptomatic ventricular hypertrophy and left ventricular outflow tract obstruction&#46; She underwent septal alcohol ablation&#44; followed by Morrow myectomy&#46; The patient was also diagnosed with severe dyslipidemia&#44; diabetes and obesity&#44; and fulfilled diagnostic criteria for metabolic syndrome&#46; No other characteristics of <span class="elsevierStyleItalic">LMNA</span> mutation-related phenotypes were identified&#46; The development of type III atrioventricular block with no apparent cause&#44; and mildly depressed systolic function&#44; prompted referral for cardiac resynchronization therapy&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">In conclusion&#44; the association between <span class="elsevierStyleItalic">LMNA</span> mutations and different phenotypes is complex and not fully understood&#44; and can present with a broad spectrum of severity&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">O gene LMNA codifica a l&#226;mina A&#47;C&#44; com importante papel na manuten&#231;&#227;o da coes&#227;o nuclear e organiza&#231;&#227;o da cromatina&#46; Muta&#231;&#245;es neste gene est&#227;o geralmente associadas a doen&#231;as denominadas laminopatias&#46; As manifesta&#231;&#245;es card&#237;acas prim&#225;rias destas muta&#231;&#245;es s&#227;o miocardiopatia dilatada e defeitos da condu&#231;&#227;o intracard&#237;aca&#46; Algumas muta&#231;&#245;es&#44; associadas a lipodistrofia&#44; mas n&#227;o cardiomiopatia&#44; est&#227;o tamb&#233;m associadas a altera&#231;&#245;es metab&#243;licas&#44; como diabetes ou dislipidemia grave&#46; Assim&#44; descrevemos um novo fen&#243;tipo associado a uma muta&#231;&#227;o no ex&#227;o 11 do gene LMNA&#58; miocardiopatia hipertr&#243;fica&#44; bloqueio auriculoventricular&#44; dislipidemia grave e diabetes&#46;</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Apresentamos a situa&#231;&#227;o cl&#237;nica de uma doente de 64 anos de idade&#44; com miocardiopatia hipertr&#243;fica e muta&#231;&#227;o patog&#233;nica identificada no ex&#227;o 11 do gene LMNA &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41;&#46; A doente apresentou-se com hipertrofia ventricular grave sintom&#225;tica&#44; obstrutiva&#44; refrat&#225;ria &#224; terap&#234;utica m&#233;dica&#46; Foi submetida a abla&#231;&#227;o septal por &#225;lcool e&#44; posteriormente&#44; a miectomia cir&#250;rgica&#46; Foi tamb&#233;m diagnosticada dislipidemia grave&#44; diabetes e obesidade&#44; cumprindo os crit&#233;rios para s&#237;ndrome metab&#243;lica&#46; N&#227;o foi identificada nenhuma outra caracter&#237;stica fenot&#237;pica associada a muta&#231;&#245;es no gene LMNA&#46; A doente foi ainda submetida a terap&#234;utica de ressincroniza&#231;&#227;o card&#237;aca ap&#243;s o desenvolvimento de bloqueio auriculoventricular completo&#44; sem causa aparente&#44; na presen&#231;a de ligeiro compromisso da fun&#231;&#227;o sist&#243;lica ventricular&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">A correla&#231;&#227;o de muta&#231;&#245;es no gene LMNA com diferentes fen&#243;tipos &#233; complexa e ainda n&#227;o completamente compreendida&#44; englobando um largo espectro de gravidade cl&#237;nica&#46;</p></span>"
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Case report
Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes
Fenótipo complexo associado a uma mutação no exão 11 do gene da lâmina A/C: miocardiopatia hipertrófica, bloqueio auriculoventricular, dislipidemia grave e diabetes mellitus
Ana Rita G. Francisco
Corresponding author
ana.r.francisco@gmail.com

Corresponding author.
, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito
Cardiology Department, Santa Maria University Hospital, CHLN, CAML, CCUL, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The lamin A&#47;C &#40;<span class="elsevierStyleItalic">LMNA</span>&#41; gene is mapped to the long arm of chromosome 1 &#40;1q21-23&#41; and contains 12 exons&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">1</span></a> This gene encodes lamins A and C&#44; nuclear envelope proteins with an important role in nuclear cohesion and chromatin organization&#46; They are critical to the performance of the peripheral nervous system&#44; skeletal muscle&#44; osteoblastogenesis and bone formation&#44; and are also involved in the prevention of muscle fat infiltration&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">LMNA</span> gene are linked to several diseases&#44; called laminopathies&#44; which display heterogeneous phenotypes&#44; including Emery-Dreifuss muscular dystrophy&#44; limb-girdle muscular dystrophy&#44; Dunnigan-type familial partial lipodystrophy &#40;FPLD type 2&#41;&#44; Charcot-Marie-Tooth disease&#44; mandibuloacral dysplasia&#44; Hutchinson-Gilford progeria syndrome&#44; atypical forms of Werner syndrome and restrictive dermopathy&#46;<a class="elsevierStyleCrossRefs" href="#bib0105"><span class="elsevierStyleSup">2&#8211;5</span></a> Regarding cardiovascular disease&#44; the phenotype is typically dilated cardiomyopathy with conduction defects &#40;atrial arrhythmia or atrioventricular &#91;AV&#93; block&#41;&#44; progression to heart failure and a high incidence of sudden cardiac death&#46;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;6&#8211;8</span></a> There is only one case report of hypertrophic cardiomyopathy associated with mutations in this gene&#44;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">3</span></a> and other rare associations with ventricular hypertrophy&#44;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;4&#44;9</span></a> left ventricular noncompaction and arrhythmogenic right ventricular dysplasia have been described&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">10</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Disorders caused by <span class="elsevierStyleItalic">LMNA</span> mutations&#44; like FPLD type 2&#44; are also linked to metabolic abnormalities characterized by abnormal fat distribution&#44; insulin resistance&#44; diabetes&#44; dyslipidemia&#44; high blood pressure&#44; hepatic steatosis and increased risk for coronary heart disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0115"><span class="elsevierStyleSup">4&#44;5&#44;9&#44;11</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The lipodystrophic and myopathic phenotypes are thought to be mutually exclusive&#44; but in rare cases heterozygous <span class="elsevierStyleItalic">LMNA</span> mutations are associated with cardiac and skeletal muscular involvement&#46;<a class="elsevierStyleCrossRefs" href="#bib0140"><span class="elsevierStyleSup">9&#44;12&#8211;14</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">In this report we describe a new phenotype linked to a mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene&#58; hypertrophic cardiomyopathy&#44; AV block&#44; severe dyslipidemia and diabetes&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0030" class="elsevierStylePara elsevierViewall">The authors present the case of a 64-year-old woman with metabolic syndrome &#8211; obesity &#40;body mass index 30 kg&#47;m<span class="elsevierStyleSup">2</span>&#41;&#44; severe dyslipidemia &#40;fasting serum triglycerides &#91;TG&#93; 960 mg&#47;dl&#44; total cholesterol &#91;TC&#93; 273 mg&#47;dl&#44; high-density lipoprotein cholesterol 40 mg&#47;dl&#41; and diabetes &#40;HbA1c 6&#46;8&#37;&#41; &#8211; who presented in January 2013 with fatigue on minimal exertion in NYHA functional class II&#46; On cardiac auscultation&#44; a systolic murmur was audible along the upper left sternal border&#44; increasing with the Valsalva maneuver&#46; The electrocardiogram &#40;ECG&#41; revealed sinus rhythm with normal interventricular conduction&#46; Transthoracic echocardiography &#40;echo&#41; identified severe left ventricular hypertrophy &#40;LVH&#41;&#44; with basal septal wall 21&#46;7 mm and posterior wall 11&#46;8 mm&#44; systolic anterior motion of the mitral valve and a dynamic left ventricular outflow gradient of 111 mmHg at rest&#46; There was no family history of cardiac disease&#46; Genetic screening&#44; testing a panel of 51 genes associated with cardiomyopathies by oligonucleotide-based target capture followed by next-generation sequencing&#44; identified a point mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene &#40;c&#46;1718C&#62;T&#44; p&#46;Ser573Leu&#41;&#46; Besides obesity&#44; diabetes and severe dyslipidemia&#44; no other phenotypic characteristics related to the <span class="elsevierStyleItalic">LMNA</span> mutation were identified&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Despite medical treatment with bisoprolol and amlodipine&#44; the patient&#39;s heart failure symptoms worsened and septal alcohol ablation was performed&#46; A satisfactory final result was achieved with symptomatic improvement and gradient reduction &#40;maximum subaortic gradient of 25 mmHg at rest and 37 mmHg after the Valsalva maneuver&#44; with septal basal wall of 14&#46;2 mm&#44; measured six days after the procedure&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Several months later&#44; despite optimized medication&#44; heart failure symptoms worsened&#44; with progression of LVH &#40;basal septal wall 18&#46;3 mm&#41; and recurrence of outflow obstruction &#40;124 mmHg at rest&#41;&#46; Morrow myectomy was performed with a good final result &#40;maximum subaortic gradient of 10 mmHg after Valsalva maneuver&#41;&#46; After surgery the ECG revealed sinus rhythm and a left bundle branch block pattern&#44; with QRS duration of 160 ms&#46; The patient remained clinically stable under treatment with bisoprolol&#44; amlodipine&#44; spironolactone&#44; furosemide&#44; rosuvastatin and metformin&#46; Three months later she presented at the emergency department with seizure and worsening fatigue&#46; A pattern of complete AV block at 30 bpm was detected and a temporary transvenous cardiac pacemaker was implanted&#46; After 48 hours of bisoprolol washout&#44; the AV block pattern persisted and the patient remained pacemaker-dependent&#46; Echo evaluation showed mild LVH &#40;septal wall 12&#46;1 mm and posterior wall 12&#46;8 mm&#41;&#44; no left ventricular outflow tract obstruction&#44; paradoxical septal motion and left ventricular ejection fraction of 45&#37;&#46; Considering her history of heart failure&#44; the reduction in ejection fraction and the broad QRS complex&#44; a cardiac resynchronization device was implanted&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Regarding the metabolic disorder&#44; laboratory tests on admission revealed a fasting serum TG level of 3260 mg&#47;dl and TC of 640 mg&#47;dl&#46; Although there were no acute complications related to severe dyslipidemia&#44; in order to achieve rapid and effective lowering of TG values and to prevent complications due to hypertriglyceridemia&#44; particularly acute pancreatitis&#44; therapeutic plasma exchange was performed&#46; Treatment with lipid-lowering agents was also intensified&#44; with up-titration of rosuvastatin and addition of bezafibrate and ezetimibe&#44; and beta-blocker therapy was reintroduced&#46; The patient was discharged&#44; and at the first reassessment one month later she was asymptomatic&#44; with 100&#37; pacing capture and a significantly improved lipid profile&#46; At six-month follow-up she remained in NYHA functional class I&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">LMNA</span> gene are associated with a highly heterogeneous group of phenotypes&#46; The molecular mechanisms through which lamin A&#47;C mutations lead to such phenotypic variability are poorly understood&#46; Several hypotheses have been advocated&#44; including mechanical shearing&#44; differential gene regulation by interaction with nuclear chromatin&#44; and interaction between mutant lamins and other nuclear proteins&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">15</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Of the 12 exons composing the human <span class="elsevierStyleItalic">LMNA</span> gene&#44; exons 11 and 12 are specific for lamin A&#44; while mutations in the other exons &#40;1-10&#41; affect both variants &#40;lamin A and C&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">3</span></a> Usually&#44; mutations affecting both splice forms result in more severe phenotypes&#44; and&#44; mutations in exon 11 &#8211; affecting only the globular domain specific to the lamin A isoform &#8211; are associated with milder phenotypes regarding lipodystrophy and myopathy&#44; as was the case with this patient&#46;<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">3&#44;13</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Cardiac involvement with lipodystrophy has been previously associated with <span class="elsevierStyleItalic">LMNA</span> mutations&#44; but the cardiac phenotype is usually dilated cardiomyopathy associated with conduction defects&#46; In contrast&#44; our patient had a pattern of hypertrophic cardiomyopathy&#44; and conduction disturbances requiring pacemaker implantation&#46; Her systolic dysfunction &#40;as demonstrated by left ventricular ejection fraction of 45&#37;&#41;&#44; broad QRS&#44; and history of heart failure prompted the implantation of a cardiac resynchronization device&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">15</span></a> For patients with AV block and systolic dysfunction&#44; biventricular pacing not only reduces the risk of mortality and morbidity&#44; but also leads to better clinical outcomes&#44; compared with right ventricular pacing&#46;<a class="elsevierStyleCrossRef" href="#bib0175"><span class="elsevierStyleSup">16</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">The <span class="elsevierStyleItalic">LMNA</span> mutation identified in our patient &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41; was first documented in 2003 by Taylor et al&#46;<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">17</span></a> This mutation had been identified in heterozygosity in a patient with dilated cardiomyopathy and conduction defects<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">17</span></a> and in homozygosity in a patient with arthropathy&#44; tendinous calcinosis&#44; and progeroid features without any type of cardiomyopathy&#46;<a class="elsevierStyleCrossRef" href="#bib0185"><span class="elsevierStyleSup">18</span></a> Because heterozygosity for this mutation can cause cardiomyopathy without lipodystrophy or lipodystrophy without cardiomyopathy&#44; Lanktree et al&#46; suggested that additional factors&#44; genetic or environmental&#44; may contribute to the precise tissue involvement&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">19</span></a> This specific mutation has not previously been associated with hypertrophic cardiomyopathy&#46; However&#44; the significant LVH &#40;septal thickness 21 mm&#41; in the absence of other identifiable cause&#44; and the identification of a single pathogenic mutation in a sarcomere-related gene &#40;point mutation in exon 11 in the <span class="elsevierStyleItalic">LMNA</span> gene&#44; in a panel of 51 genes associated with cardiomyopathies&#41;&#44; suggested a causal association between the molecular genetic findings and the cardiac phenotype in this patient&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">In conclusion&#44; the association between <span class="elsevierStyleItalic">LMNA</span> gene mutations and different phenotypes is complex and not fully understood&#44; and can present with a broad spectrum of severity&#46; Of note&#44; the occurrence and severity of myopathic and lipoatrophic phenotypes are not related and the correlation of newly identified mutations and individual clinical phenotypes is mandatory&#46; We report a new and complex phenotype linked to a mutation in exon 11 in the <span class="elsevierStyleItalic">LMNA</span> gene &#40;c&#46;1718C&#62;T&#44; p&#46;Ser573Leu&#41; associated with hypertrophic cardiomyopathy&#44; atrioventricular block&#44; severe dyslipidemia and diabetes&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0075" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0080" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their work center on the publication of patient data&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0085" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article&#46; The corresponding author is in possession of this document&#46;</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Author contributions</span><p id="par0095" class="elsevierStylePara elsevierViewall">ARF and DB were responsible for the conception&#44; design and drafting of the article&#46; All the authors made substantial contributions to the article&#44; through data acquisition&#44; data interpretation and revision&#46; All authors gave their final approval of the version to be submitted&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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    "fechaAceptado" => "2016-07-13"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec884898"
          "palabras" => array:6 [
            0 => "Hypertrophic cardiomyopathy"
            1 => "Lamin A&#47;C"
            2 => "LMNA gene"
            3 => "Dyslipidemia"
            4 => "Diabetes"
            5 => "Atrioventricular block"
          ]
        ]
      ]
      "pt" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palavras-chave"
          "identificador" => "xpalclavsec884897"
          "palabras" => array:6 [
            0 => "Miocardiopatia hipertr&#243;fica"
            1 => "L&#226;mina A&#47;C"
            2 => "Gene LMNA"
            3 => "Dislipidemia"
            4 => "Diabetes"
            5 => "Bloqueio auriculoventricular"
          ]
        ]
      ]
    ]
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    "resumen" => array:2 [
      "en" => array:2 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The lamin A&#47;C &#40;<span class="elsevierStyleItalic">LMNA</span>&#41; gene encodes lamins A and C&#44; which have an important role in nuclear cohesion and chromatin organization&#46; Mutations in this gene usually lead to the so-called laminopathies&#44; the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects&#46; Some mutations&#44; associated with lipodystrophy but not cardiomyopathy&#44; have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia&#46; Herein we describe a new phenotype associated with a mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene&#58; hypertrophic cardiomyopathy&#44; atrioventricular block&#44; severe dyslipidemia and diabetes&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A 64-year-old woman with hypertrophic cardiomyopathy and a point mutation in exon 11 of the <span class="elsevierStyleItalic">LMNA</span> gene &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41; presented with severe symptomatic ventricular hypertrophy and left ventricular outflow tract obstruction&#46; She underwent septal alcohol ablation&#44; followed by Morrow myectomy&#46; The patient was also diagnosed with severe dyslipidemia&#44; diabetes and obesity&#44; and fulfilled diagnostic criteria for metabolic syndrome&#46; No other characteristics of <span class="elsevierStyleItalic">LMNA</span> mutation-related phenotypes were identified&#46; The development of type III atrioventricular block with no apparent cause&#44; and mildly depressed systolic function&#44; prompted referral for cardiac resynchronization therapy&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">In conclusion&#44; the association between <span class="elsevierStyleItalic">LMNA</span> mutations and different phenotypes is complex and not fully understood&#44; and can present with a broad spectrum of severity&#46;</p></span>"
      ]
      "pt" => array:2 [
        "titulo" => "Resumo"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">O gene LMNA codifica a l&#226;mina A&#47;C&#44; com importante papel na manuten&#231;&#227;o da coes&#227;o nuclear e organiza&#231;&#227;o da cromatina&#46; Muta&#231;&#245;es neste gene est&#227;o geralmente associadas a doen&#231;as denominadas laminopatias&#46; As manifesta&#231;&#245;es card&#237;acas prim&#225;rias destas muta&#231;&#245;es s&#227;o miocardiopatia dilatada e defeitos da condu&#231;&#227;o intracard&#237;aca&#46; Algumas muta&#231;&#245;es&#44; associadas a lipodistrofia&#44; mas n&#227;o cardiomiopatia&#44; est&#227;o tamb&#233;m associadas a altera&#231;&#245;es metab&#243;licas&#44; como diabetes ou dislipidemia grave&#46; Assim&#44; descrevemos um novo fen&#243;tipo associado a uma muta&#231;&#227;o no ex&#227;o 11 do gene LMNA&#58; miocardiopatia hipertr&#243;fica&#44; bloqueio auriculoventricular&#44; dislipidemia grave e diabetes&#46;</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Apresentamos a situa&#231;&#227;o cl&#237;nica de uma doente de 64 anos de idade&#44; com miocardiopatia hipertr&#243;fica e muta&#231;&#227;o patog&#233;nica identificada no ex&#227;o 11 do gene LMNA &#40;c&#46;1718C&#62;T&#44; Ser573Leu&#41;&#46; A doente apresentou-se com hipertrofia ventricular grave sintom&#225;tica&#44; obstrutiva&#44; refrat&#225;ria &#224; terap&#234;utica m&#233;dica&#46; Foi submetida a abla&#231;&#227;o septal por &#225;lcool e&#44; posteriormente&#44; a miectomia cir&#250;rgica&#46; Foi tamb&#233;m diagnosticada dislipidemia grave&#44; diabetes e obesidade&#44; cumprindo os crit&#233;rios para s&#237;ndrome metab&#243;lica&#46; N&#227;o foi identificada nenhuma outra caracter&#237;stica fenot&#237;pica associada a muta&#231;&#245;es no gene LMNA&#46; A doente foi ainda submetida a terap&#234;utica de ressincroniza&#231;&#227;o card&#237;aca ap&#243;s o desenvolvimento de bloqueio auriculoventricular completo&#44; sem causa aparente&#44; na presen&#231;a de ligeiro compromisso da fun&#231;&#227;o sist&#243;lica ventricular&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">A correla&#231;&#227;o de muta&#231;&#245;es no gene LMNA com diferentes fen&#243;tipos &#233; complexa e ainda n&#227;o completamente compreendida&#44; englobando um largo espectro de gravidade cl&#237;nica&#46;</p></span>"
      ]
    ]
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Article information
ISSN: 21742049
Original language: English
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Revista Portuguesa de Cardiologia (English edition)
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