Left ventricular non-compaction (LVNC) is reported to affect 0.14% of the pediatric
population. The etiology is heterogeneous and includes a wide number of genetic causes …

1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report
two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and …

Objective Noncompaction cardiomyopathy or left ventricular noncompaction is a rare
disease that is probably underdiagnosed. The diagnosis is reached by echocardiography …

We report on an infant with tetrasomy of 5q35. 2‐5q35. 3, an interstitial triplication on one
chromosome and normal complement on the other. The patient has some features of Hunter …

Abstract A 14-year-old African-American female with a long-standing medically and ablation-
treated history of tachycardia with associated seizures died suddenly. Upon autopsy …

Objectives: Only few data are available about the risk of myopathy patients experiencing a
cerebral stroke. Aims: To review the current knowledge about the frequency, pathogenesis …

The article presents a case study of a 25-year-old patient with 1p36 gene deletion who has
undergone cardiac magnetic resonance (CMR) imaging for left ventricular noncompaction …

Left ventricular noncompaction (LVNC) is an inherited cardiomyopathy involving numerous
genes. To identify novel candidate causal mutations, a whole exome sequencing study was …

Annotation Dependent Depletion, predicted to be damaging by at least 2 programs) and
evolutionary conserved. Filtration excluded most of the variants identified by WES, with only …

A miocardiopatia não compactada isolada é uma doença rara, que provavelmente surge no
período embrionário, com a parada intrauterina da compactação miocárdica no início do …