Hereditary Dilated Cardiomyopathy: A Case Report
Aim. To conduct a clinical and pathological analysis of a case of hereditary dilated cardiomyopathy with endocardial fibroelastosis. Materials and methods. A pathological examination was conducted on a 7-month-old child. Macroscopic, microscopic, morphometric, and statistical research methods wer...
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Professional Edition Eastern Europe
2025-06-01
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| Series: | Український журнал серцево-судинної хірургії |
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| Online Access: | https://cvs.org.ua/index.php/ujcvs/article/view/736 |
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| author | Anna A. Zelinska Tetiana V. Savchuk |
| author_facet | Anna A. Zelinska Tetiana V. Savchuk |
| author_sort | Anna A. Zelinska |
| collection | DOAJ |
| description | Aim. To conduct a clinical and pathological analysis of a case of hereditary dilated cardiomyopathy with endocardial fibroelastosis.
Materials and methods. A pathological examination was conducted on a 7-month-old child. Macroscopic, microscopic, morphometric, and statistical research methods were applied.
Clinical and Pathological Case. The girl was born from the third pregnancy and third physiological delivery at 38 weeks of gestation, with a birth weight of 2990 g and an Apgar score of 8–9. She was born to parents with a burdened family history — two previous male siblings had died from congenital heart disease, specifically dilated cardiomyopathy, at the ages of 6 years and 3.5 months. Ultrasound examinations of the heart during pregnancy and at 1.5 months of age revealed no abnormalities. At 7 months, the child died of acute heart failure in the context of a viral infection, at which time cardiomyopathy was diagnosed for the first time. Autopsy findings revealed dilation of the left ventricular chamber with endocardial fibroelastosis. Subendocardially, mature wavy connective tissue fibers and young connective tissue elements were found in the interstitium of the deeper myocardial layers, indicating disease progression. This led to myocardial dysfunction associated with cardiomyocyte atrophy.
Conclusions. We present a case of hereditary dilated cardiomyopathy (DCMP) characterized by a combination of left ventricular (LV) dilatation and endocardial fibroelastosis, which mutually accelerated the progression of fibrotic changes in the heart and contributed to sudden death in the context of an acute respiratory viral infection. A key challenge in DCMP is determining its underlying cause—whether genetic abnormalities or immunoinflammatory mechanisms. This case, with the first manifestations of the disease at 7 months of age, highlights the critical need for early diagnosis and genetic screening, particularly in individuals with a burdened family history. |
| format | Article |
| id | doaj-art-43bed06a1d144b85bbf6c5752762ee83 |
| institution | Kabale University |
| issn | 2664-5963 2664-5971 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Professional Edition Eastern Europe |
| record_format | Article |
| series | Український журнал серцево-судинної хірургії |
| spelling | doaj-art-43bed06a1d144b85bbf6c5752762ee832025-08-20T03:29:38ZengProfessional Edition Eastern EuropeУкраїнський журнал серцево-судинної хірургії2664-59632664-59712025-06-01332899610.63181/ujcvs.2025.33(2).89-96736Hereditary Dilated Cardiomyopathy: A Case ReportAnna A. Zelinska0https://orcid.org/0009-0002-0500-3262Tetiana V. Savchuk1https://orcid.org/0000-0002-7218-0253Bogomolets National Medical University, Kyiv, UkraineBogomolets National Medical University, Kyiv, UkraineAim. To conduct a clinical and pathological analysis of a case of hereditary dilated cardiomyopathy with endocardial fibroelastosis. Materials and methods. A pathological examination was conducted on a 7-month-old child. Macroscopic, microscopic, morphometric, and statistical research methods were applied. Clinical and Pathological Case. The girl was born from the third pregnancy and third physiological delivery at 38 weeks of gestation, with a birth weight of 2990 g and an Apgar score of 8–9. She was born to parents with a burdened family history — two previous male siblings had died from congenital heart disease, specifically dilated cardiomyopathy, at the ages of 6 years and 3.5 months. Ultrasound examinations of the heart during pregnancy and at 1.5 months of age revealed no abnormalities. At 7 months, the child died of acute heart failure in the context of a viral infection, at which time cardiomyopathy was diagnosed for the first time. Autopsy findings revealed dilation of the left ventricular chamber with endocardial fibroelastosis. Subendocardially, mature wavy connective tissue fibers and young connective tissue elements were found in the interstitium of the deeper myocardial layers, indicating disease progression. This led to myocardial dysfunction associated with cardiomyocyte atrophy. Conclusions. We present a case of hereditary dilated cardiomyopathy (DCMP) characterized by a combination of left ventricular (LV) dilatation and endocardial fibroelastosis, which mutually accelerated the progression of fibrotic changes in the heart and contributed to sudden death in the context of an acute respiratory viral infection. A key challenge in DCMP is determining its underlying cause—whether genetic abnormalities or immunoinflammatory mechanisms. This case, with the first manifestations of the disease at 7 months of age, highlights the critical need for early diagnosis and genetic screening, particularly in individuals with a burdened family history.https://cvs.org.ua/index.php/ujcvs/article/view/736endocardial fibroelastosisleft ventriclecardiomyocytesmyocardiumpathologygenetic screening |
| spellingShingle | Anna A. Zelinska Tetiana V. Savchuk Hereditary Dilated Cardiomyopathy: A Case Report Український журнал серцево-судинної хірургії endocardial fibroelastosis left ventricle cardiomyocytes myocardium pathology genetic screening |
| title | Hereditary Dilated Cardiomyopathy: A Case Report |
| title_full | Hereditary Dilated Cardiomyopathy: A Case Report |
| title_fullStr | Hereditary Dilated Cardiomyopathy: A Case Report |
| title_full_unstemmed | Hereditary Dilated Cardiomyopathy: A Case Report |
| title_short | Hereditary Dilated Cardiomyopathy: A Case Report |
| title_sort | hereditary dilated cardiomyopathy a case report |
| topic | endocardial fibroelastosis left ventricle cardiomyocytes myocardium pathology genetic screening |
| url | https://cvs.org.ua/index.php/ujcvs/article/view/736 |
| work_keys_str_mv | AT annaazelinska hereditarydilatedcardiomyopathyacasereport AT tetianavsavchuk hereditarydilatedcardiomyopathyacasereport |