2 results
Proinflammatory indicators and the relevance of echocardiography in children with cystic fibrosis
- Ovgu Ozenli Yagci, Ayşe Sulu, Pelin Kosger, Gonca Kilic Yildirim, Hulya Anil, Birsen Ucar, Koray Harmanci
-
- Journal:
- Cardiology in the Young / Volume 34 / Issue 1 / January 2024
- Published online by Cambridge University Press:
- 19 May 2023, pp. 73-78
-
- Article
- Export citation
-
As the life expectancy improves in cystic fibrosis, cardiac dysfunction is becoming an important risk factor for morbidity and mortality. Here, the association of cardiac dysfunction with proinflammatory markers and neurohormones between cystic fibrosis patients and healthy children was investigated. Echocardiographic measurements of right and left ventricular morphology and functions together with levels of proinflammatory markers and neurohormones (renin, angiotensin-II, and aldosterone) were obtained and analysed in a study group of 21 cystic fibrosis children aged 5–18 years and compared with age- and gender-matched healthy children. It was shown that patients had significantly higher interleukin-6, C-reactive protein, renin and aldosterone levels (p < 0.05), dilated right ventricles, decreased left ventricle sizes, as well as both right and left ventricular dysfunction. These echocardiographic changes correlated with hypoxia, interleukin-1 α, interleukin-6, C-reactive protein, and aldosterone (p < 0.05) levels. The current study revealed that hypoxia, proinflammatory markers, and neurohormones are major determinants of subclinical changes in ventricular morphology and function. While the right ventricle anatomy was affected by cardiac remodeling, the left ventricle changes were induced by right ventricle dilation and hypoxia. A significant but subclinical systolic and diastolic right ventricle dysfunction in our patients was associated with hypoxia and inflammatory markers. Systolic left ventricle function was affected by hypoxia and neurohormones. Echocardiography is a reliable and non-invasive method that is used safely in cystic fibrosis children for screening and detection of cardiac anatomical and functional changes. Extensive studies are needed to determine the time and frequency of screening and treatment suggestions for such changes.
A very rare cause of sudden cardiac arrest in children: triadin knockout syndrome
- Ayse Sulu, Mehmet Karacan, Yakup Ergul
-
- Journal:
- Cardiology in the Young / Volume 33 / Issue 1 / January 2023
- Published online by Cambridge University Press:
- 28 April 2022, pp. 130-132
-
- Article
- Export citation
-
Triadin knockout syndrome has been defined as a disease with transient long QT, T wave abnormalities, and extremely severe fatal cardiac arrhythmias in young children. In this report, we wanted to share the characteristics of our two cases who presented with sudden cardiac arrest and were diagnosed with triadin knockout syndrome.
Case 1:A 7.5-year-old male patient was referred to our clinic with a history of recurrent syncope and aborted cardiac arrest. There was no family history of sudden death, syncope, or arrhythmia. Physical examination, electrocardiography, echocardiography, and 24-hour rhythm Holter monitoring were normal, and bidirectional ventricular tachycardiaT was detected during the exercise stress test. Genetic analysis revealed a homozygous mutation of c.531_533delinsGG, p.(Lys179Asnfs * 44) frameshift variant in TRDN(NM_006073) gene.
Case 2:A 4.5-year-old male was admitted due to syncope during exertion and underwent cardiopulmonary resuscitation due to sudden cardiac arrest. He had family history about sudden cardiac death. Physical examination was normal, and there was borderline QTc prolongation. Bidirectional non-sustained polymorphic ventricular tachycardia was observed at adrenaline provocation test. In genetic analysis, c.568dupA, pII190Asnfs * 2 frameshift variant homozygous mutation was detected in TRDN(NM_006073) gene. Intracardiac defibrillator implantation were performed for both cases. There has not been any event under propranolol and flecainide combination treatment.
Conclusion:Triadin knockout syndrome (TCOS) is a rare overlap syndrome characterized by highly malignant arrhythmias, and it is a deadly combination of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia that affects primarily young children. Since lethal arrhythmias are frequently described, genetic testing is very important in these patients. Because, identification of a genetic mutation may be a guide in treatment.