Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

We report on a case of a 25‐year‐old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults....

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Published inAmerican journal of medical genetics. Part A Vol. 152A; no. 1; pp. 191 - 195
Main Authors Dod, Harvinder S., Bhardwaj, Ravindra, Hummel, Marybeth, Morise, Anthony P., Batish, Satdev, Warden, Bradford E., Beto, Robert J., Jain, Abnash C.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2010
Wiley-Liss
Subjects
2D‐TTE (two‐dimensional transthoracic echocardiography)
Adult
Biological and medical sciences
Cardiology. Vascular system
Cardiovascular system
Chromosome Aberrations
Chromosomes, Human, Pair 1
Classical genetics, quantitative genetics, hybrids
deletion 1p36
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Heart
Heart Ventricles - physiopathology
Human
Humans
Investigative techniques, diagnostic techniques (general aspects)
left ventricular noncompaction
Male
Medical genetics
Medical sciences
Myocarditis. Cardiomyopathies
Ultrasonic investigative techniques
unclassified cardiomyopathy
Sonography
Human
Chromosomal aberration
Genetic mapping
unclassified cardiomyopathy
2D-TTE (two-dimensional transthoracic echocardiography)
Echocardiography
Cardiomyopathy
Cardiovascular disease
Myocardial disease
Left ventricle
left ventricular noncompaction
deletion 1p36
Association
Deletion
Adult
Ventricular non compaction
Congenital cardiopathy
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Summary:We report on a case of a 25‐year‐old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case. © 2009 Wiley‐Liss, Inc.
Bibliography:How to cite this article: Dod HS, Bhardwaj R, Hummel M, Morise AP, Batish S, Warden BE, Beto RJ, Jain AC. 2010. Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly. Am J Med Genet Part A 152A:191–195.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33155