Time zero for survival analysis was at time of diagnosis/presentation (only factors present at the time of diagnosis were included). [dx.doi.org]

Discordance for congenital heart disease was observed in the twins: Twin A presented with pulmonary atresia with an intact ventricular septum, critical tricuspid stenosis, and severe right-ventricular hypoplasia, whereas twin B presented with mild mitral [ncbi.nlm.nih.gov]

• Fishing

  One child had DiGeorge syndrome, confirmed by fluorescent in situ hybridization (FISH) analysis demonstrating 22q11 deletion but no underlying congenital heart disease (CHD). One patient had congenital adrenal hyperplasia. [dx.doi.org]

  FISH showed that this deletion included the locus for the cardiac-specific homeobox gene CSX ( 600584 ). [genome.jp]

• Hemianopsia

  There, she presented a sudden right hemiparesis the next day with right hemianopsia and aphasia. [karger.com]

• Macrocephaly

  The authors report case of an 8-mo-old infant with HMG-CoA lyase deficiency, who presented with macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis. [ncbi.nlm.nih.gov]

  & Azak, E. 3-HMG coenzyme A lyase deficiency: macrocephaly and left ventricular noncompaction with a novel mutation. Indian J. Pediatr. 82, 645–648 (2015). 198. Egan, K. R., Ralphe, J. C., Weinhaus, L. & Maginot, K. R. [nature.com]

• Cesarean Section

  Results Family A The proband (AII.2) was a white male, born after an uncomplicated term gestation by an emergent cesarean section for low heart rate; he was intubated briefly. His birth weight was 7lb 14oz. [dx.doi.org]

Subsequent cardiology workup revealed hypertrabeculation vs LVNC. [ncbi.nlm.nih.gov]

Her preliminary workup including holter monitor, urine toxicology, vasculitis screen, hypercoagulable screen, and lumbar puncture were unrevealing. [neurology.org]

However, comprehensive workup with medical information from the past revealed a different cause of cardiomyopathy. In 2010, the patient had already been referred to our hospital because of dyspnea. [circ.ahajournals.org]

• Left Axis Deviation

  Verapamil-sensitive fascicular ventricular tachycardia is a rare arrhythmogenic condition characterized by a right bundle-branch block pattern and left-axis deviation with a relatively narrow QRS complex. [ncbi.nlm.nih.gov]

  Other common findings included isolated or diffuse T-wave inversion (39%), ST-segment abnormalities or strain (34%), atrial enlargement (19%), and left-axis deviation (9%). [dx.doi.org]

• Hypoketotic Hypoglycemia

  HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly [ncbi.nlm.nih.gov]

Effects of β-blocker treatment in LVNC require validation in prospective controlled studies. [ncbi.nlm.nih.gov]

Treatment for other types of cardiomyopathy - if someone has LVNC alongside another type of cardiomyopathy, they may need additional treatment. If someone does not have any symptoms, they will not usually require any treatment. [cardiomyopathy.org]

HF at diagnosis and LVPWC hypoplasia are major determinants of poor prognosis. KEYWORDS: Heart failure; Infants; Juveniles; Noncompaction; Prognosis [Indexed for MEDLINE] Free full text [ncbi.nlm.nih.gov]

Whether prognosis can be improved by early diagnosis-treatment. Comprehension of the poor genotype-phenotype correlation. [escardio.org]

Left ventricular noncompaction is an unusual but increasingly recognized cardiomyopathy, the etiology of which is still not definitely established. [ncbi.nlm.nih.gov]

It is often associated with other congenital cardiac abnormalities, arrhythmias or heart failure, and has been described as an etiology for stroke. [neurology.org]

The remainder of the exhaustive etiological assessment was not contributory. No biological thrombophilia was found. [karger.com]

This state-of-the-art review discusses new insights into the basic mechanisms leading to LVNC, its clinical manifestations, treatment modalities, anatomy and pathology, embryology, genetics, epidemiology, and imaging. [ncbi.nlm.nih.gov]

[…] novel in‐frame desmin ( DES ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect Corresponding Author E-mail address: [email protected] http://orcid.org/0000-0002-0972-5118 Laboratory of Genetic Epidemiology [doi.org]

The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003; 348(17):1639-46. doi: 10.1056/ NEJMoa021737 [ Links ] 9. Kovacevic-Preradovic T, Jenni R, Oechslin EN, Noll G, Seifert B, Attenhofer Jost CH. [scielo.edu.uy]

Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [link.springer.com]

The pathophysiology of left ventricular dysfunction, which becomes apparent beyond the 4th decade of life, is unclear. [ncbi.nlm.nih.gov]

Ryan, Pathophysiology of Cardiomyopathies, Fetal and Neonatal Physiology, 10.1016/B978-0-323-35214-7.00154-2, (1563-1575.e4), (2017). Z. Khuchua and J.A. [dx.doi.org]

Evidence-based recommendations for preventing thromboembolic events in isolated left ventricular noncompaction have not been established. [ncbi.nlm.nih.gov]

The primary goal is to improve cardiac function and to prevent symptoms. Medications are used to treat symptoms, reverse heart damage and to prevent ongoing damage to the heart muscle. [cincinnatichildrens.org]