A 4-year-old asymptomatic boy was referred for evaluation after being diagnosed with Melnick-Needles syndrome. Echocardiography demonstrated noncompaction of the left ventricular myocardium as an isolated cardiac finding. Though other structural cardiac defects were reported previously in this syndr
Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium
β Scribed by Digilio, Maria Cristina; Marino, Bruno; Bevilacqua, Maurizio; Musolino, Anna Maria; Giannotti, Aldo; Dallapiccola, Bruno
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 4 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990702)85:1<90::aid-ajmg19>3.0.co;2-u
No coin nor oath required. For personal study only.
β¦ Synopsis
Fig. 1. Pedigrees of two families of patients with INVM, showing recurrence of INVM in brother and sister in one family (A), and parental consanguinity in the other (B).
π SIMILAR VOLUMES
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this di
Isolated right ventricular hypoplasia is a rare congenital anomaly. This condition is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect. We describe a familial occurrence of this rare disease. A 1-day-old male child and h
We report on two unrelated children, a girl and a boy, with regressive metaphyseal dysplasia. Both children had bow legs and a transient growth decline in early childhood. Metaphyseal modifications of the long bones in the children were most conspicuous at an early age and then subsided by age 2 to
We compared the features of schizophrenia in the homogeneous population of Finland (population about 5,000,000) and in an internal isolate in northeastern Finland inhabited in the 1680s by a small group of founders (current population about 18,000) in a register-based epidemiological study. We ident
We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac spe