Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients
| Autor: | Hiromasa Hayama, Reiko Arakawa, Norihiro Kato, Fumihiko Takeuchi, Mayu Minemoto, Yukio Hiroi, Atsuko Okazaki, Hisao Hara, Toru Okazaki, Masaya Yamamoto, Wataru Miyake, Kotaro Mori, Kozue Takano |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty TNNT2 Shock Cardiogenic Gene mutation Primary cardiomyopathy Troponin T Internal medicine Humans Medicine Outpatient clinic Heart Failure Isolated Noncompaction of the Ventricular Myocardium Myosin Heavy Chains biology business.industry General Medicine Middle Aged Left ventricular noncompaction cardiomyopathy Troponin Phenotype Acute Disease Mutation Myosin binding Cardiology biology.protein MYH7 Carrier Proteins Cardiology and Cardiovascular Medicine business Cardiac Myosins |
| Zdroj: | International Heart Journal. 62:1420-1429 |
| ISSN: | 1349-3299 1349-2365 |
| Popis: | Left ventricular noncompaction cardiomyopathy (LVNC) is a heart muscle disorder morphologically characterized by reticulated trabeculations and intertrabecular recesses in the left ventricular (LV) cavity. LVNC is a genetically and phenotypically heterogeneous condition, which has been increasingly recognized with the accumulation of evidence provided by genotype-phenotype correlation analyses. Here, we report 2 sporadic adult cases of LVNC; both developed acute heart failure as an initial clinical manifestation and harbored causal sarcomere gene mutations. One case was a 57-year-old male with digenic heterozygote mutations, p.R1344Q in myosin heavy chain 7 (MYH7) and p.R144W in troponin T2, cardiac type (TNNT2), who showed morphological characteristics of LVNC in the lateral to apical regions of the LV together with a comorbidity of non-transmural myocardial infarction, resulting from a coronary artery stenosis. After the removal of ischemic insult and standard heart failure treatment, LVNC became less clear, and LV function gradually improved. The other case was a 36-year-old male with a heterozygote mutation, p.E334K in myosin binding protein C3 (MYBPC3), who exhibited cardiogenic shock on admission with morphological characteristics of LVNC being most prominent in the apical segment of the LV. The dosage of beta-blocker was deliberately increased in an outpatient clinic over 6 months following hospitalization, which remarkably improved the LV ejection fraction from 21% to 54.3%. Via a combination of imaging and histopathological and genetic tests, we have found that these cases are not compatible with a persistent phenotype of primary cardiomyopathy, but their morphological features are changeable in response to treatment. Thus, we point out phenotypic plasticity or undulation as a noticeable element of LVNC in this case report. |
| Databáze: | OpenAIRE |
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