Recessive MYH6 Mutations in Hypoplastic Left Heart with Reduced Ejection Fraction

Circulation: Cardiovascular Genetics

Volumn 8, Issue 4, 2015, Pages 564-571

  Theis, Jeanne L ^a   Zimmermann, Michael T ^d   Evans, Jared M ^d   Eckloff, Bruce W ^e   Wieben, Eric D ^a,e   Qureshi, Muhammad Y ^b   O'Leary, Patrick W ^b   Olson, Timothy M ^a,b,c  

^a MAYO CLINIC   (United States)

^b Pediatric Cardiology   (United States)

^c Division of Cardiovascular Diseases   (United States)

^d Departments of Health Sciences Research and Biomedical Statistics and Informatics   (United States)

^e Medical Genome Facility   (United States)

Author keywords

genomics; heart defects, congenital; heart failure; hypoplastic left heart syndrome; missense mutations; myosin heavy chains

Indexed keywords

ACETYLSALICYLIC ACID; AMINO ACID; CARVEDILOL; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DNA; ENALAPRIL; FUROSEMIDE; LEVOTHYROXINE; LISINOPRIL; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 6; SPIRONOLACTONE; UNCLASSIFIED DRUG; WARFARIN; CARDIAC MYOSIN; MYH6 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DOPPLER ECHOCARDIOGRAPHY; FAMILY; FIRST DEGREE RELATIVE; FONTAN PROCEDURE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; HEART FAILURE; HEART FUNCTION; HEART RIGHT VENTRICLE EJECTION FRACTION; HEART RIGHT VENTRICLE FAILURE; HEREDITY; HETEROZYGOTE; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; M MODE ECHOCARDIOGRAPHY; MISSENSE MUTATION; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; RISK FACTOR; SIBLING; WHOLE GENOME SEQUENCING; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; ECHOCARDIOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEART STROKE VOLUME; HUMAN GENOME; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PROCEDURES; PROTEIN TERTIARY STRUCTURE; RECESSIVE GENE;

CARDIAC MYOSINS; ECHOCARDIOGRAPHY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HETEROZYGOTE; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; MALE; MODELS, MOLECULAR; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; STROKE VOLUME;

EID: 84940035829     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.115.001070     Document Type: Article

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