Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy

Carolyn Y. Ho, Nancy K Sweitzer, Barbara McDonough, Barry J. Maron, Susan A. Casey, J. G. Seidman, Christine E. Seidman, Scott D. Solomon

Research output: Contribution to journalArticle

297 Citations (Scopus)

Abstract

Background - Unexplained left ventricular hypertrophy (LVH) is considered diagnostic of hypertrophic cardiomyopathy (HCM) but fails to identify all genetically affected individuals. Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH; however, data regarding the clinical utility of imaging techniques that assess this parameter are limited. Methods and Results - Echocardiographic studies including Doppler tissue imaging (DTI) were performed in a genotyped HCM population with β-myosin heavy chain (β-MHC) mutations. Genotype (+) individuals with LVH (G+/LVH+; n=18) and genotype (+) individuals without LVH (G+/LVH-; n=18) were compared with normal control subjects (n=36). Left ventricular ejection fraction (EF) was significantly higher in both genotype (+) groups (75±5% and 71±6%, respectively, versus 64±5% in control subjects; P<0.0001). Mean early diastolic myocardial velocities (Ea) were significantly lower in both genotype (+) subgroups, irrespective of LVH (P<0.02). However, there was substantial overlap in Ea velocities between the G+/LVH- and control groups. An Ea velocity of ≤13.5 cm/s had 86% specificity and 75% sensitivity for identifying genotype-positive subjects. The combination of EF ≥68% and Ea velocity < 15 cm/s was 100% specific and 44% sensitive in predicting affected genotype. Conclusions - Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by β-MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM.

Original languageEnglish (US)
Pages (from-to)2992-2997
Number of pages6
JournalCirculation
Volume105
Issue number25
DOIs
StatePublished - Jun 25 2002
Externally publishedYes

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Hypertrophic Cardiomyopathy
Left Ventricular Hypertrophy
Genotype
Mutation
Myosin Heavy Chains
Stroke Volume
Sensitivity and Specificity
Control Groups

Keywords

  • Cardiomyopathy
  • Diastole
  • Echocardiography
  • Genetics
  • Hypertrophy

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

Cite this

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. / Ho, Carolyn Y.; Sweitzer, Nancy K; McDonough, Barbara; Maron, Barry J.; Casey, Susan A.; Seidman, J. G.; Seidman, Christine E.; Solomon, Scott D.

In: Circulation, Vol. 105, No. 25, 25.06.2002, p. 2992-2997.

Research output: Contribution to journalArticle

Ho, Carolyn Y. ; Sweitzer, Nancy K ; McDonough, Barbara ; Maron, Barry J. ; Casey, Susan A. ; Seidman, J. G. ; Seidman, Christine E. ; Solomon, Scott D. / Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. In: Circulation. 2002 ; Vol. 105, No. 25. pp. 2992-2997.
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abstract = "Background - Unexplained left ventricular hypertrophy (LVH) is considered diagnostic of hypertrophic cardiomyopathy (HCM) but fails to identify all genetically affected individuals. Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH; however, data regarding the clinical utility of imaging techniques that assess this parameter are limited. Methods and Results - Echocardiographic studies including Doppler tissue imaging (DTI) were performed in a genotyped HCM population with β-myosin heavy chain (β-MHC) mutations. Genotype (+) individuals with LVH (G+/LVH+; n=18) and genotype (+) individuals without LVH (G+/LVH-; n=18) were compared with normal control subjects (n=36). Left ventricular ejection fraction (EF) was significantly higher in both genotype (+) groups (75±5{\%} and 71±6{\%}, respectively, versus 64±5{\%} in control subjects; P<0.0001). Mean early diastolic myocardial velocities (Ea) were significantly lower in both genotype (+) subgroups, irrespective of LVH (P<0.02). However, there was substantial overlap in Ea velocities between the G+/LVH- and control groups. An Ea velocity of ≤13.5 cm/s had 86{\%} specificity and 75{\%} sensitivity for identifying genotype-positive subjects. The combination of EF ≥68{\%} and Ea velocity < 15 cm/s was 100{\%} specific and 44{\%} sensitive in predicting affected genotype. Conclusions - Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by β-MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM.",
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TY - JOUR

T1 - Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy

AU - Ho, Carolyn Y.

AU - Sweitzer, Nancy K

AU - McDonough, Barbara

AU - Maron, Barry J.

AU - Casey, Susan A.

AU - Seidman, J. G.

AU - Seidman, Christine E.

AU - Solomon, Scott D.

PY - 2002/6/25

Y1 - 2002/6/25

N2 - Background - Unexplained left ventricular hypertrophy (LVH) is considered diagnostic of hypertrophic cardiomyopathy (HCM) but fails to identify all genetically affected individuals. Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH; however, data regarding the clinical utility of imaging techniques that assess this parameter are limited. Methods and Results - Echocardiographic studies including Doppler tissue imaging (DTI) were performed in a genotyped HCM population with β-myosin heavy chain (β-MHC) mutations. Genotype (+) individuals with LVH (G+/LVH+; n=18) and genotype (+) individuals without LVH (G+/LVH-; n=18) were compared with normal control subjects (n=36). Left ventricular ejection fraction (EF) was significantly higher in both genotype (+) groups (75±5% and 71±6%, respectively, versus 64±5% in control subjects; P<0.0001). Mean early diastolic myocardial velocities (Ea) were significantly lower in both genotype (+) subgroups, irrespective of LVH (P<0.02). However, there was substantial overlap in Ea velocities between the G+/LVH- and control groups. An Ea velocity of ≤13.5 cm/s had 86% specificity and 75% sensitivity for identifying genotype-positive subjects. The combination of EF ≥68% and Ea velocity < 15 cm/s was 100% specific and 44% sensitive in predicting affected genotype. Conclusions - Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by β-MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM.

AB - Background - Unexplained left ventricular hypertrophy (LVH) is considered diagnostic of hypertrophic cardiomyopathy (HCM) but fails to identify all genetically affected individuals. Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH; however, data regarding the clinical utility of imaging techniques that assess this parameter are limited. Methods and Results - Echocardiographic studies including Doppler tissue imaging (DTI) were performed in a genotyped HCM population with β-myosin heavy chain (β-MHC) mutations. Genotype (+) individuals with LVH (G+/LVH+; n=18) and genotype (+) individuals without LVH (G+/LVH-; n=18) were compared with normal control subjects (n=36). Left ventricular ejection fraction (EF) was significantly higher in both genotype (+) groups (75±5% and 71±6%, respectively, versus 64±5% in control subjects; P<0.0001). Mean early diastolic myocardial velocities (Ea) were significantly lower in both genotype (+) subgroups, irrespective of LVH (P<0.02). However, there was substantial overlap in Ea velocities between the G+/LVH- and control groups. An Ea velocity of ≤13.5 cm/s had 86% specificity and 75% sensitivity for identifying genotype-positive subjects. The combination of EF ≥68% and Ea velocity < 15 cm/s was 100% specific and 44% sensitive in predicting affected genotype. Conclusions - Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by β-MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM.

KW - Cardiomyopathy

KW - Diastole

KW - Echocardiography

KW - Genetics

KW - Hypertrophy

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U2 - 10.1161/01.CIR.0000019070.70491.6D

DO - 10.1161/01.CIR.0000019070.70491.6D

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C2 - 12081993

AN - SCOPUS:0037173015

VL - 105

SP - 2992

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JO - Circulation

JF - Circulation

SN - 0009-7322

IS - 25

ER -