Magnitude of Left Ventricular Hypertrophy and Risk of Sudden Death in Hypertrophic Cardiomyopathy

Spirito, Paolo; Bellone, Pietro; Harris, Kevin M.; Bernabò, Paola; Bruzzi, Paolo; Maron, Barry J.

doi:10.1056/nejm200006153422403

Cited by 988 publications

(613 citation statements)

References 29 publications

Supporting

Mentioning

561

Contrasting

Unclassified

Order By: Relevance

“…27,28 Males and females differ in their presentation of HCM, with cohorts usually having a predominance of males. [29][30][31] In our study, an effect of gender on age at onset in the relatives was observed: men were affected at younger age than women. This may be explained by a protective role of estrogens in the hypertrophic response and the evidence that exposure of cardiac myocytes to androgen results in hypertrophy.…”

Section: Discussionsupporting

confidence: 53%

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

et al. 2012

View full text Add to dashboard Cite

The phenotypic variability of hypertrophic cardiomyopathy (HCM) in patients with identical pathogenic mutations suggests additional modifiers. In view of the regulatory role in cardiac function, blood pressure, and electrolyte homeostasis, polymorphisms in the renin-angiotensin-aldosterone system (RAAS) are candidates for modifying phenotypic expression. In order to investigate whether RAAS polymorphisms modulate HCM phenotype, we selected a large cohort of carriers of one of the three functionally equivalent truncating mutations in the MYBPC3 gene. Family-based association analysis was performed to analyze the effects of five candidate RAAS polymorphisms (ACE, rs4646994; AGTR1, rs5186; CMA, rs1800875; AGT, rs699; CYP11B2, rs1799998) in 368 subjects carrying one of the three mutations in the MYBPC3 gene. Interventricular septum (IVS) thickness and Wigle score were assessed by 2D-echocardiography. SNPs in the RAAS system were analyzed separately and combined as a pro-left ventricular hypertrophy (LVH) score for effects on the HCM phenotype. Analyzing the five polymorphisms separately for effects on IVS thickness and Wigle score detected two modest associations. Carriers of the CC genotype in the AGT gene had less pronounced IVS thickness compared with CT and TT genotype carriers. The DD polymorphism in the ACE gene was associated with a high Wigle score (P ¼ 0.01). No association was detected between the pro-LVH score and IVS thickness or Wigle score. In conclusion, in contrast to previous studies, in our large study population of HCM patients with functionally equivalent mutations in the MYBPC3 gene we did not find major effects of genetic variation within the genes of the RAAS system on phenotypic expression of HCM.

show abstract

Section: Discussionsupporting

confidence: 53%

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

et al. 2012

View full text Add to dashboard Cite

show abstract

“…On the other hand, a subgroup of younger patients with HOCM (with a thicker basal septum at baseline) requires interventional therapy decades sooner as the result of intrinsic myocardial processes associated with a more "malignant" form of HCM. 25 The large and very compelling study published by Spirito et al 26 involved 480 patients with HCM, 43 of whom had marked hypertrophy. Mortality was 18.2% in the marked hypertrophy cohort during an average 7-year follow-up, which was significantly more than in the group with less hypertrophy.…”

Section: Discussionmentioning

confidence: 99%

Age-Related Hemodynamic and Morphologic Differences in Patients Undergoing Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy

Veselka

Duchoňová

Páleníc̆ková

et al. 2006

Circ J

View full text Add to dashboard Cite

Background Alcohol septal ablation (ASA) decreases the left ventricular (LV) outflow gradient and relieves symptoms in patients with highly symptomatic hypertrophic obstructive cardiomyopathy (HOCM). The aim of this study was to evaluate the early course of hemodynamic, morphologic and clinical changes in younger and elderly patients. Methods and Results Forty-four consecutive patients (age, 24-81 years) underwent the ASA procedure for HOCM. Clinical and echocardiographic data were obtained at baseline and periodically up to 12 months after ASA. There was a significant correlation between septum thickness and age at baseline and in the early post procedural period (p=0.004 at baseline, p=0.0033 days postoperative, p=0.0193 weeks pos operative). The dependence of septal thickness on the duration of follow-up (p<0.001) was significantly influenced by age (p=0.026), which retained statistical significance after multivariate adjustment (p=0.031). A decrease in the gradient of the LV outflow was identified in all age-related groups of patients (p<0.001). After multivariate adjustment, there was a significant influence of age (p=0.003) and creatine kinase-MB peak (p=0.016) on the course of outflow gradient reduction. Conclusions ASA is an effective treatment option for patients with HOCM, irrespective of their age. Younger patients are characterized by a thicker basal septum at baseline and a slower hemodynamic improvement within the early post procedural period. (Circ J 2006; 70: 880 -884)

show abstract

“…[1][2][3] Elimination or reduction of LVOT obstruction is associated with improved functional status and less symptoms. Currently, the primary options to achieve this aim include myectomy 4 -6 and septal alcohol ablation.…”

Section: Eft Ventricular Outflow Tract (Lvot) Obstruction Ismentioning

confidence: 99%

Usefulness of real-time three-dimensional echocardiography for evaluation of myectomy in patients with hypertrophic cardiomyopathy

Qin¹,

Shiota²,

Asher³

et al. 2004

The American Journal of Cardiology

View full text Add to dashboard Cite

Magnitude of Left Ventricular Hypertrophy and Risk of Sudden Death in Hypertrophic Cardiomyopathy

Cited by 988 publications

References 29 publications

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

Age-Related Hemodynamic and Morphologic Differences in Patients Undergoing Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy

Usefulness of real-time three-dimensional echocardiography for evaluation of myectomy in patients with hypertrophic cardiomyopathy

Contact Info

Product

Resources

About