A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

Author(s):  
Juliana Gurgel-Giannetti ◽  
Lucas Santos Souza ◽  
Guilherme Ferraz Messina de Pádua Andrade ◽  
Maria de Fátima Derlene ◽  
Zilda Maria Alves Meira ◽  
...  
2016 ◽  
Vol 9 (4) ◽  
Author(s):  
Olga Blagova ◽  
Alexander Nedostup ◽  
Dmitry Shumakov ◽  
Vitaly Poptsov ◽  
Anna Shestak ◽  
...  

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A472-A472
Author(s):  
Weston T Powell ◽  
Maida Chen ◽  
Erin MacKintosh

Abstract Introduction Central sleep apnea due to Cheyne-Stokes breathing (CSA-CSB) commonly occurs in adult patients with chronic heart failure, but has rarely been described in children. We describe a case of CSA-CSB in a pediatric patient with dilated cardiomyopathy and acute heart failure. Report of Case A 12-year-old is admitted to the intensive care unit in the setting of new diagnosis of dilated cardiomyopathy leading to acute systolic and diastolic heart failure requiring inotropic infusions. After admission she is noted to have self-resolving desaturations on continuous pulse oximetry while asleep. Sleep medicine is consulted for further evaluation. She has desaturations during naps and night-time sleep that are not associated with any snoring, congestion, cough, choking, or gagging. She underwent adenotonsillectomy 7 years prior. Her father has dilated cardiomyopathy. Current medications are spironolactone, furosemide, ranitidine, loratadine, enoxaparin, milrinone and epinephrine infusion. Physical exam reveals an obese girl with absent tonsils, clear breath sounds, and tachycardia. Cardiac MRI showed severely dilated left ventricle with global hypokinesia and depressed function (EF 7%). Polysomnography reveals AHI 24.2/hr, with oAHI 0/hr and cAHI 24.2/hr. No snoring, flow limitation, or thoracoabdominal paradox is seen. Cheyne-Stokes respiration is present leading to diagnosis of CSA-CSB. Supplemental oxygen is provided to blunt desaturations. While waiting for titration PSG she underwent placement of a left ventricular assist device and orthotopic heart transplantation. Following heart transplantation she had resolution of desaturations while asleep without supplemental oxygen; family declined repeat polysomnography. Conclusion Central sleep apnea with Cheyne-Stokes breathing is associated with increased mortality in adult patients with heart failure and provides important prognostic information if identified. The prevalence of central sleep apnea and its implications are unknown in pediatric patients and our case highlights the need to consider sleep disordered breathing as a cause of desaturations in patients with acute heart failure.


2020 ◽  
Vol 11 (4) ◽  
pp. 520-521 ◽  
Author(s):  
Shannon Alexandra Solt ◽  
Timothy M. Hoffman ◽  
Mahesh S. Sharma ◽  
Katherine D. Westreich ◽  
Margaret Kihlstrom ◽  
...  

Gitelman syndrome (GS) is a rare hereditary tubulopathy affecting the distal tubule leading to significant electrolyte disturbances.1 Although generally a benign condition, rare associations with arrhythmias and sudden cardiac death have been reported.1 A paucity of literature exists associating GS with cardiomyopathy. We present a child with dilated cardiomyopathy and GS who was successfully treated with orthotopic heart transplantation.


Author(s):  
Yuanwei Xu ◽  
Jiayi Lin ◽  
Yaodan Liang ◽  
Ke Wan ◽  
Weihao Li ◽  
...  

Abstract Aims To evaluate the prognostic value of left ventricular (LV) remodelling index (RI) in idiopathic dilated cardiomyopathy (DCM) patients. Methods and results We prospectively enrolled 412 idiopathic DCM patients and 130 age- and sex-matched healthy volunteers who underwent cardiovascular magnetic resonance imaging between September 2013 and March 2018. RI was defined as the cubic root of the LV end-diastolic volume divided by the mean LV wall thickness on basal short-axis slice. The primary endpoint included all-cause mortality and heart transplantation. The secondary endpoint included the primary endpoint and heart failure (HF) readmission. During the median follow-up of 28.1 months (interquartile range: 19.3–43.0 months), 62 (15.0%) and 143 (34.7%) patients reached the primary and secondary endpoints, respectively. Stepwise multivariate Cox regression showed that RI [hazard ratio (HR) 1.20, 95% confidence interval (CI) 1.11–1.30, P < 0.001], late gadolinium enhancement (LGE) presence and log (N-terminal pro-B-type natriuretic peptide) were independent predictors of the primary endpoint, while RI (HR 1.15, 95% CI 1.08–1.23, P < 0.001) and extracellular volume were independent predictors of the secondary endpoint. The addition of RI to LV ejection fraction (EF) and LGE presence showed significantly improved global χ2 for predicting primary and secondary endpoints (both P < 0.001). Furthermore, RI derived from echocardiography also showed independent prognostic value for primary and secondary endpoints with clinical risk factors. Conclusions RI is an independent predictor of all-cause mortality, heart transplantation, and HF readmission in DCM patients and provides incremental prognostic value to LVEF and LGE presence.


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