Transthyretin V122I (pV142I)∗ cardiac amyloidosis: An age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans

Genetics in Medicine

Volumn 19, Issue 7, 2017, Pages 733-742

  Buxbaum, Joel N ^a   Ruberg, Frederick L ^b  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

African American; amyloidosis; autosomal dominant; cardiomyopathy; transthyretin

Indexed keywords

AMYLOID; DIFLUNISAL; DIURETIC AGENT; DOXYCYCLINE; EPIGALLOCATECHIN GALLATE; ISOLEUCINE; PATISIRAN; PREALBUMIN; REVUSIRAN; SMALL INTERFERING RNA; TAFAMIDIS; TAUROURSODEOXYCHOLIC ACID; VALINE;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; AUTOPSY; CASE STUDY; CLINICAL OUTCOME; CLINICAL TRIAL (TOPIC); DISEASE ASSOCIATION; HEART AMYLOIDOSIS; HUMAN; NONHUMAN; PATHOGENESIS; POPULATION GENETICS; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; REVIEW; UNITED STATES; ADULT; AFRICA; AGE; AGED; ALLELE; AMYLOIDOSIS; CARDIOMYOPATHY; FEMALE; GENE FREQUENCY; GENETICS; HEART FAILURE; MALE; METABOLISM; MIDDLE AGED; MUTATION; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

ADULT; AFRICA; AFRICAN AMERICANS; AGE FACTORS; AGED; AGED, 80 AND OVER; ALLELES; AMYLOIDOSIS; CARDIOMYOPATHIES; FEMALE; GENE FREQUENCY; HEART FAILURE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREALBUMIN; PREVALENCE;

EID: 85024091798     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.200     Document Type: Review

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