Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature
| Autor: | Anri Hayashi, Minoru Shibata, Tatsuya Fujii, Fumihito Nozaki, Takashi Kusunoki, Ikuko Hiejima, Tomohiro Kumada |
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| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Heart disease Heart malformation business.industry 030204 cardiovascular system & hematology medicine.disease Left ventricular noncompaction cardiomyopathy Sudden death Asymptomatic 03 medical and health sciences 0302 clinical medicine Internal medicine Heart failure Genetics Cardiology medicine medicine.symptom Trisomy business Stroke 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. 173:1947-1950 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.38270 |
| Popis: | Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC. We described a patient with trisomy 13 who was diagnosed with LVNC-dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management. |
| Databáze: | OpenAIRE |
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