Diagnosis and screening of hypertrophic cardiomyopathy in children

Gul H. Dadlani, William G. Harmon, Elimarys Perez-Colon, Mary C Sokoloski, Ivan Wilmot, Steven E Lipshultz

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the leading cause of sudden cardiac death in young people in the United States. Wide genetic heterogeneity and phenotypic expression are seen in hypertrophic cardiomyopathy and can make this disorder difficult to recognize in the general public. Population based screening for hypertrophic cardiomyopathy is aimed to allow for early detection, earlier treatment, promote complete family screening and to hopefully prevent some cases of sudden cardiac death in the community. A screening regimen consisting of a directed medical history and physical exam is currently recommended in the United States. The addition of electrocardiography is routine in some countries and can help guide the utilization of more expensive or invasive testing. Tools such as echocardiography, magnetic resonance imaging, serum biomarkers, and genetic testing are then directed to specific individuals to maximize their diagnostic and prognostic impact. Currently, no specific or widespread screening program has been uniformly adopted across the United States, as costs, benefits and the hazards of false positive diagnoses have yet to be balanced and decided. A working knowledge and appropriate suspicion for HCM remains fundamental for clinicians in order to diagnosis this important disorder.

Original languageEnglish
Pages (from-to)21-27
Number of pages7
JournalProgress in Pediatric Cardiology
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2011

Fingerprint

Hypertrophic Cardiomyopathy
Sudden Cardiac Death
Genetic Heterogeneity
Genetic Testing
Cost-Benefit Analysis
Echocardiography
Electrocardiography
Biomarkers
Magnetic Resonance Imaging
Serum
Population
Therapeutics

Keywords

  • Hypertrophic cardiomyopathy
  • Pediatrics
  • Screening
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Diagnosis and screening of hypertrophic cardiomyopathy in children. / Dadlani, Gul H.; Harmon, William G.; Perez-Colon, Elimarys; Sokoloski, Mary C; Wilmot, Ivan; Lipshultz, Steven E.

In: Progress in Pediatric Cardiology, Vol. 31, No. 1, 01.01.2011, p. 21-27.

Research output: Contribution to journalArticle

Dadlani, GH, Harmon, WG, Perez-Colon, E, Sokoloski, MC, Wilmot, I & Lipshultz, SE 2011, 'Diagnosis and screening of hypertrophic cardiomyopathy in children', Progress in Pediatric Cardiology, vol. 31, no. 1, pp. 21-27. https://doi.org/10.1016/j.ppedcard.2010.11.005
Dadlani, Gul H. ; Harmon, William G. ; Perez-Colon, Elimarys ; Sokoloski, Mary C ; Wilmot, Ivan ; Lipshultz, Steven E. / Diagnosis and screening of hypertrophic cardiomyopathy in children. In: Progress in Pediatric Cardiology. 2011 ; Vol. 31, No. 1. pp. 21-27.
@article{ad90374a3ea34d4cb51146c2982f2087,
title = "Diagnosis and screening of hypertrophic cardiomyopathy in children",
abstract = "Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the leading cause of sudden cardiac death in young people in the United States. Wide genetic heterogeneity and phenotypic expression are seen in hypertrophic cardiomyopathy and can make this disorder difficult to recognize in the general public. Population based screening for hypertrophic cardiomyopathy is aimed to allow for early detection, earlier treatment, promote complete family screening and to hopefully prevent some cases of sudden cardiac death in the community. A screening regimen consisting of a directed medical history and physical exam is currently recommended in the United States. The addition of electrocardiography is routine in some countries and can help guide the utilization of more expensive or invasive testing. Tools such as echocardiography, magnetic resonance imaging, serum biomarkers, and genetic testing are then directed to specific individuals to maximize their diagnostic and prognostic impact. Currently, no specific or widespread screening program has been uniformly adopted across the United States, as costs, benefits and the hazards of false positive diagnoses have yet to be balanced and decided. A working knowledge and appropriate suspicion for HCM remains fundamental for clinicians in order to diagnosis this important disorder.",
keywords = "Hypertrophic cardiomyopathy, Pediatrics, Screening, Sudden cardiac death",
author = "Dadlani, {Gul H.} and Harmon, {William G.} and Elimarys Perez-Colon and Sokoloski, {Mary C} and Ivan Wilmot and Lipshultz, {Steven E}",
year = "2011",
month = "1",
day = "1",
doi = "10.1016/j.ppedcard.2010.11.005",
language = "English",
volume = "31",
pages = "21--27",
journal = "Progress in Pediatric Cardiology",
issn = "1058-9813",
publisher = "Elsevier Ireland Ltd",
number = "1",

}

TY - JOUR

T1 - Diagnosis and screening of hypertrophic cardiomyopathy in children

AU - Dadlani, Gul H.

AU - Harmon, William G.

AU - Perez-Colon, Elimarys

AU - Sokoloski, Mary C

AU - Wilmot, Ivan

AU - Lipshultz, Steven E

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the leading cause of sudden cardiac death in young people in the United States. Wide genetic heterogeneity and phenotypic expression are seen in hypertrophic cardiomyopathy and can make this disorder difficult to recognize in the general public. Population based screening for hypertrophic cardiomyopathy is aimed to allow for early detection, earlier treatment, promote complete family screening and to hopefully prevent some cases of sudden cardiac death in the community. A screening regimen consisting of a directed medical history and physical exam is currently recommended in the United States. The addition of electrocardiography is routine in some countries and can help guide the utilization of more expensive or invasive testing. Tools such as echocardiography, magnetic resonance imaging, serum biomarkers, and genetic testing are then directed to specific individuals to maximize their diagnostic and prognostic impact. Currently, no specific or widespread screening program has been uniformly adopted across the United States, as costs, benefits and the hazards of false positive diagnoses have yet to be balanced and decided. A working knowledge and appropriate suspicion for HCM remains fundamental for clinicians in order to diagnosis this important disorder.

AB - Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the leading cause of sudden cardiac death in young people in the United States. Wide genetic heterogeneity and phenotypic expression are seen in hypertrophic cardiomyopathy and can make this disorder difficult to recognize in the general public. Population based screening for hypertrophic cardiomyopathy is aimed to allow for early detection, earlier treatment, promote complete family screening and to hopefully prevent some cases of sudden cardiac death in the community. A screening regimen consisting of a directed medical history and physical exam is currently recommended in the United States. The addition of electrocardiography is routine in some countries and can help guide the utilization of more expensive or invasive testing. Tools such as echocardiography, magnetic resonance imaging, serum biomarkers, and genetic testing are then directed to specific individuals to maximize their diagnostic and prognostic impact. Currently, no specific or widespread screening program has been uniformly adopted across the United States, as costs, benefits and the hazards of false positive diagnoses have yet to be balanced and decided. A working knowledge and appropriate suspicion for HCM remains fundamental for clinicians in order to diagnosis this important disorder.

KW - Hypertrophic cardiomyopathy

KW - Pediatrics

KW - Screening

KW - Sudden cardiac death

UR - http://www.scopus.com/inward/record.url?scp=79451475601&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79451475601&partnerID=8YFLogxK

U2 - 10.1016/j.ppedcard.2010.11.005

DO - 10.1016/j.ppedcard.2010.11.005

M3 - Article

AN - SCOPUS:79451475601

VL - 31

SP - 21

EP - 27

JO - Progress in Pediatric Cardiology

JF - Progress in Pediatric Cardiology

SN - 1058-9813

IS - 1

ER -