Abstract:ARVC may lead to an extreme phenotypic variability in clinical manifestations even within patients coming from the same family in which ARVC is caused by the same genetic mutation. ECG progression over time reflects disease evolution and in particular cases may anticipate wall motion abnormalities by years.
“…More recent genotype-phenotype correlation studies have shown early and greater LV involvement related to some genetic defects, such as desmoplakin-gene mutations. 28 The present study extended previous observations [25][26][27] by showing that the electrocardiographic pattern of low QRS voltages may predict LV involvement in the context of ACM with a specificity of 100%, although its sensitivity did not exceed 30%. The mechanism involved in the reduction of QRS voltages reasonably consists of the decrease of LV myocardial mass, which mostly accounts for the generation of the electrical activity causing the depolarization current responsible for the QRS complex.…”
Section: Low Qrs Voltages In Limb Leadssupporting
confidence: 86%
“…24 Several studies reported anecdotal evidence that low QRS voltages in limb leads may reflect the presence of a segmental LV scar/ LGE, which can be evidenced by CE-CMR. [25][26][27] Actually, CE-CMR has emerged as the imaging test that allows the "in vivo" detection and the characterization of LV involvement in ACM, in terms of dilatation and systolic dysfunction assessed by cine CMR sequences and/or fibrofatty scar detected by postcontrast CMR sequences. 7 On the basis of the presence and extent of the coexistent LV involvement, the spectrum of ACM phenotypes has broadened to include "biventricular" and "left-dominant" variants, in addition to the classic "right-dominant" form.…”
Background
The new designation of arrhythmogenic cardiomyopathy defines a broader spectrum of disease phenotypes, which include right dominant, biventricular, and left dominant variants. We evaluated the relationship between electrocardiographic findings and contrast‐enhanced cardiac magnetic resonance phenotypes in arrhythmogenic cardiomyopathy.
Methods and Results
We studied a consecutive cohort of patients with a definite diagnosis of arrhythmogenic cardiomyopathy, according to 2010 International Task Force criteria, who underwent electrocardiography and contrast‐enhanced cardiac magnetic resonance. Both depolarization and repolarization electrocardiographic abnormalities were correlated with the severity of dilatation/dysfunction, either global or regional, of both ventricles and the presence and regional distribution of late gadolinium enhancement. The study population included 79 patients (60% men). There was a statistically significant relationship between the presence and extent of T‐wave inversion across a 12‐lead
ECG
and increasing values of median right ventricular (
RV
) end‐diastolic volume (
P
<0.001) and decreasing values of
RV
ejection fraction (
P
<0.001). The extent of T‐wave inversion to lateral leads predicted a more severe
RV
dilatation rather than a left ventricular involvement because of the leftward displacement of the dilated
RV
, as evidenced by contrast‐enhanced cardiac magnetic resonance. A terminal activation delay of >55 ms in the right precordial leads (V1‐V3) was associated with higher
RV
volume (
P
=0.014) and lower
RV
ejection fraction (
P
=0.053). Low
QRS
voltages in limb leads predicted the presence (
P
=0.004) and amount (
P
<0.001) of left ventricular late gadolinium enhancement.
Conclusions
The study results indicated that electrocardiographic abnormalities predict the arrhythmogenic cardiomyopathy phenotype in terms of severity of
RV
disease and left ventricular involvement, which are among the most important determinants of the disease outcome.
“…More recent genotype-phenotype correlation studies have shown early and greater LV involvement related to some genetic defects, such as desmoplakin-gene mutations. 28 The present study extended previous observations [25][26][27] by showing that the electrocardiographic pattern of low QRS voltages may predict LV involvement in the context of ACM with a specificity of 100%, although its sensitivity did not exceed 30%. The mechanism involved in the reduction of QRS voltages reasonably consists of the decrease of LV myocardial mass, which mostly accounts for the generation of the electrical activity causing the depolarization current responsible for the QRS complex.…”
Section: Low Qrs Voltages In Limb Leadssupporting
confidence: 86%
“…24 Several studies reported anecdotal evidence that low QRS voltages in limb leads may reflect the presence of a segmental LV scar/ LGE, which can be evidenced by CE-CMR. [25][26][27] Actually, CE-CMR has emerged as the imaging test that allows the "in vivo" detection and the characterization of LV involvement in ACM, in terms of dilatation and systolic dysfunction assessed by cine CMR sequences and/or fibrofatty scar detected by postcontrast CMR sequences. 7 On the basis of the presence and extent of the coexistent LV involvement, the spectrum of ACM phenotypes has broadened to include "biventricular" and "left-dominant" variants, in addition to the classic "right-dominant" form.…”
Background
The new designation of arrhythmogenic cardiomyopathy defines a broader spectrum of disease phenotypes, which include right dominant, biventricular, and left dominant variants. We evaluated the relationship between electrocardiographic findings and contrast‐enhanced cardiac magnetic resonance phenotypes in arrhythmogenic cardiomyopathy.
Methods and Results
We studied a consecutive cohort of patients with a definite diagnosis of arrhythmogenic cardiomyopathy, according to 2010 International Task Force criteria, who underwent electrocardiography and contrast‐enhanced cardiac magnetic resonance. Both depolarization and repolarization electrocardiographic abnormalities were correlated with the severity of dilatation/dysfunction, either global or regional, of both ventricles and the presence and regional distribution of late gadolinium enhancement. The study population included 79 patients (60% men). There was a statistically significant relationship between the presence and extent of T‐wave inversion across a 12‐lead
ECG
and increasing values of median right ventricular (
RV
) end‐diastolic volume (
P
<0.001) and decreasing values of
RV
ejection fraction (
P
<0.001). The extent of T‐wave inversion to lateral leads predicted a more severe
RV
dilatation rather than a left ventricular involvement because of the leftward displacement of the dilated
RV
, as evidenced by contrast‐enhanced cardiac magnetic resonance. A terminal activation delay of >55 ms in the right precordial leads (V1‐V3) was associated with higher
RV
volume (
P
=0.014) and lower
RV
ejection fraction (
P
=0.053). Low
QRS
voltages in limb leads predicted the presence (
P
=0.004) and amount (
P
<0.001) of left ventricular late gadolinium enhancement.
Conclusions
The study results indicated that electrocardiographic abnormalities predict the arrhythmogenic cardiomyopathy phenotype in terms of severity of
RV
disease and left ventricular involvement, which are among the most important determinants of the disease outcome.
“…( A , B ) CMR of a patient with DSC2 p.Arg49His mutation showing biventricular involvement in the LGE mode (red arrows); ( C ) 12-lead ECG showing a reduction of R waves amplitude in left precordial leads (left involvement) and inverted T waves in V1-V6 (RV strain pattern); together they indicate biventricular involvement. Reproduced with permission from Gaido et al (2017) [ 37 ].…”
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, posing a significant clinical challenge. Further to this, wider evaluation of family members has revealed incomplete penetrance and variable expressivity in ACM, suggesting a complex genotype-phenotype relationship. This review details the genetic basis of ACM with specific genotype-phenotype associations, providing the reader with a nuanced perspective of this condition; whilst also proposing a future roadmap to delivering precision medicine-based management in ACM.
“…Gandjbakhch et al 17 also described this variant as a consequence of de novo occurrence. Gaido et al 18 suggested that ARVC patients may exhibit extreme phenotypic-variavility in their clinical manifestations, even among patients carrying thep.Arg49His in the same family.Fig. 2Summary of the DSG2 variants found in the with ARVC.As determined using Human GRCh37/hg19, NM_001943.4:c.146G>A/p.…”
Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmoglein2 (DSG2) gene complex heterozygous mutation NM_001943.4:c.146G>A/p.(Arg49His)and NM_001943.3:c.1592T>G/p.(Phe531Cys). In family B, the proband carries a homozygous mutation NM_001943.3:c.1592T>G/p.(Phe531Cys).
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