Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1
Introduction: Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50–100 repeats have not been reported. Case report: In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, an...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2015-05-01
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| Series: | Revista Portuguesa de Cardiologia |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0870255115001079 |
| _version_ | 1811221808159916032 |
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| author | Josef Finsterer Claudia Stöllberger Martin Gencik Romana Höftberger Jasmin Rahimi Johannes Mokocki |
| author_facet | Josef Finsterer Claudia Stöllberger Martin Gencik Romana Höftberger Jasmin Rahimi Johannes Mokocki |
| author_sort | Josef Finsterer |
| collection | DOAJ |
| description | Introduction: Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50–100 repeats have not been reported. Case report: In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, and hyperCKemia, 70 CTG repeats were detected in the DMPK gene. Her brother had presented atypical clinical, electromyographic, and muscle biopsy features since the age of 35 but had been diagnosed with MD1 after he later developed typical distal myotonia. He died suddenly during an episode of syncope at the age of 53. A sister with clinical myotonia died suddenly during sleep at the age of 45 and a second sister with quadriparesis died from complications of intestinal rupture at age 52. A third sister committed suicide at age 40 after developing recurrent syncopes, while a fourth sister had hyperCKemia and foot-extensor weakness. The mother of these five affected children died suddenly from myocardial rupture. Conclusions: MD1 with <100 CTG repeats may exclusively manifest cardiologically. Family screening for MD1 is important even in asymptomatic patients. MD1 may initially manifest without typical features, while muscle biopsy may be misleading and indicate glycogenosis. Close cardiac follow-up is important if MD1 manifests cardiologically to prevent syncope or sudden cardiac death. Resumo: Introdução: Na distrofia miotónica tipo 1 (DM1) devido a expansão CTG 50-100 não foram reportadas até ao momento síncope e palpitações como manifestações iniciais da mesma. Caso clínico: Numa mulher de 55 anos com história familiar de DM 1 e antecedentes de um único episódio síncopal, palpitações e hiper CKemia, foi detetada uma expansão de CTG-repeat de 70 no gene DMPK. O irmão apresentava desde os 35 anos características clínicas, eletromiográficas e nas biópsias musculares atípicas tendo-lhe sido diagnosticada DM 1 após ter desenvolvido mais tarde miotonia distal típica. Morreu subitamente no contexto duma síncope aos 53 anos. Uma irmã com miotonia clínica morreu subitamente aos 45 anos durante o sono. Uma segunda irmã com quadriparesia morreu de complicações de rotura do intestino aos 52 anos. Uma terceira irmã cometeu suicídio aos 40 anos após ter desenvolvido síncopes recorrentes. Uma quarta irmã tinha hiper CKemia e fraqueza muscular nos pés. A mãe destes 5 filhos afetados morreu subitamente de rotura do miocárdio. Conclusão: A DM1 com CTG-repeat expansão < 100 pode manifestar-se exclusivamente do ponto de vista cardiológico. O rastreio familiar para DM1 é importante mesmo nos doentes assintomáticos. A DM1 pode manifestar-se inicialmente sem características típicas de DM1. A biópsia muscular na DM1 pode ser enganadora e indicar glicogenose. Um seguimento cardíaco rigoroso é importante se a DM1 se manifesta sob o ponto de vista cardiológico para prevenir a síncope ou morte súbita. Keywords: Trinucleotide disorder, Curschman-Steinert disease, Myotonic dystrophy, Cardiac involvement, Ventricular arrhythmias, Palavras-chave: Perturbação trinucleotide, Doença de Curshman-Steinert, Distrofia miotónica, Envolvimento cardíaco, Arritmias ventriculares |
| first_indexed | 2024-04-12T08:05:39Z |
| format | Article |
| id | doaj.art-5405b6069980443e834b586bec663357 |
| institution | Directory Open Access Journal |
| issn | 0870-2551 |
| language | English |
| last_indexed | 2024-04-12T08:05:39Z |
| publishDate | 2015-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Revista Portuguesa de Cardiologia |
| spelling | doaj.art-5405b6069980443e834b586bec6633572022-12-22T03:41:10ZengElsevierRevista Portuguesa de Cardiologia0870-25512015-05-01345361.e1361.e4Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1Josef Finsterer0Claudia Stöllberger1Martin Gencik2Romana Höftberger3Jasmin Rahimi4Johannes Mokocki5Corresponding author.; Kar Vienna, Vienna, AustriaKar Vienna, Vienna, AustriaKar Vienna, Vienna, AustriaKar Vienna, Vienna, AustriaKar Vienna, Vienna, AustriaKar Vienna, Vienna, AustriaIntroduction: Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50–100 repeats have not been reported. Case report: In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, and hyperCKemia, 70 CTG repeats were detected in the DMPK gene. Her brother had presented atypical clinical, electromyographic, and muscle biopsy features since the age of 35 but had been diagnosed with MD1 after he later developed typical distal myotonia. He died suddenly during an episode of syncope at the age of 53. A sister with clinical myotonia died suddenly during sleep at the age of 45 and a second sister with quadriparesis died from complications of intestinal rupture at age 52. A third sister committed suicide at age 40 after developing recurrent syncopes, while a fourth sister had hyperCKemia and foot-extensor weakness. The mother of these five affected children died suddenly from myocardial rupture. Conclusions: MD1 with <100 CTG repeats may exclusively manifest cardiologically. Family screening for MD1 is important even in asymptomatic patients. MD1 may initially manifest without typical features, while muscle biopsy may be misleading and indicate glycogenosis. Close cardiac follow-up is important if MD1 manifests cardiologically to prevent syncope or sudden cardiac death. Resumo: Introdução: Na distrofia miotónica tipo 1 (DM1) devido a expansão CTG 50-100 não foram reportadas até ao momento síncope e palpitações como manifestações iniciais da mesma. Caso clínico: Numa mulher de 55 anos com história familiar de DM 1 e antecedentes de um único episódio síncopal, palpitações e hiper CKemia, foi detetada uma expansão de CTG-repeat de 70 no gene DMPK. O irmão apresentava desde os 35 anos características clínicas, eletromiográficas e nas biópsias musculares atípicas tendo-lhe sido diagnosticada DM 1 após ter desenvolvido mais tarde miotonia distal típica. Morreu subitamente no contexto duma síncope aos 53 anos. Uma irmã com miotonia clínica morreu subitamente aos 45 anos durante o sono. Uma segunda irmã com quadriparesia morreu de complicações de rotura do intestino aos 52 anos. Uma terceira irmã cometeu suicídio aos 40 anos após ter desenvolvido síncopes recorrentes. Uma quarta irmã tinha hiper CKemia e fraqueza muscular nos pés. A mãe destes 5 filhos afetados morreu subitamente de rotura do miocárdio. Conclusão: A DM1 com CTG-repeat expansão < 100 pode manifestar-se exclusivamente do ponto de vista cardiológico. O rastreio familiar para DM1 é importante mesmo nos doentes assintomáticos. A DM1 pode manifestar-se inicialmente sem características típicas de DM1. A biópsia muscular na DM1 pode ser enganadora e indicar glicogenose. Um seguimento cardíaco rigoroso é importante se a DM1 se manifesta sob o ponto de vista cardiológico para prevenir a síncope ou morte súbita. Keywords: Trinucleotide disorder, Curschman-Steinert disease, Myotonic dystrophy, Cardiac involvement, Ventricular arrhythmias, Palavras-chave: Perturbação trinucleotide, Doença de Curshman-Steinert, Distrofia miotónica, Envolvimento cardíaco, Arritmias ventriculareshttp://www.sciencedirect.com/science/article/pii/S0870255115001079 |
| spellingShingle | Josef Finsterer Claudia Stöllberger Martin Gencik Romana Höftberger Jasmin Rahimi Johannes Mokocki Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 Revista Portuguesa de Cardiologia |
| title | Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 |
| title_full | Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 |
| title_fullStr | Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 |
| title_full_unstemmed | Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 |
| title_short | Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1 |
| title_sort | syncope and hyperckemia as minimal manifestations of short ctg repeat expansions in myotonic dystrophy type 1 |
| url | http://www.sciencedirect.com/science/article/pii/S0870255115001079 |
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