A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction

Canadian Journal of Cardiology

Volumn 30, Issue 10, 2014, Pages 1249.e1-1249.e3

  Haberer, Kim ^a   Buffo Sequeira, Ilan ^a   Chudley, Albert E ^a   Spriggs, Elizabeth ^a   Sergi, Consolato ^b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; CAPTOPRIL; CARVEDILOL; FUROSEMIDE;

ARTICLE; CARDIOGENIC SHOCK; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HEART EJECTION FRACTION; HEART GRAFT; HEART LEFT VENTRICLE FAILURE; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFANT DISEASE; INFANT FEEDING; INTUBATION; LETHARGY; LOW DRUG DOSE; MALE; PHENOTYPE; SEIZURE; TACHYPNEA; VENTRICULAR NONCOMPACTION; CONGENITAL HEART MALFORMATION; DISEASE COURSE; ECHOGRAPHY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FETUS ECHOGRAPHY; GENETICS; HEART MUSCLE; HEART VENTRICLE; MUTATION; NEWBORN; PATHOLOGY;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DISEASE PROGRESSION; HEART DEFECTS, CONGENITAL; HEART VENTRICLES; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; MYOCARDIUM; PHENOTYPE; SHOCK, CARDIOGENIC; ULTRASONOGRAPHY, PRENATAL;

EID: 84907969479     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2014.05.021     Document Type: Article

References (5)

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3. Captur G., Nihoyannopoulos Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course. Int J Cardiol 2010, 140:145-153.
4. Xu Q., Dewey S., Nguyen S., Gomes A.V. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. JMol Cell Cardiol 2010, 48:899-909.
5. Betrian Blasco P., Albert Brotóns D.C., Menduña Q.F., Noguer F.R., García G.G. Severe foetal hypertrophic cardiomyopathy evolving to left ventricular non-compaction. Eur J Echocardiogr 2010, 11:E36.