scholarly journals Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment

2021 ◽  
Author(s):  
Alexandra Butters ◽  
Neal K. Lakdawala ◽  
Jodie Ingles
Keyword(s):  
Sex Differences ◽  
Hypertrophic Cardiomyopathy ◽  
Cardiac Death ◽  
Observational Studies ◽  
Clinical Guideline ◽  
Clinical Course ◽  
Specific Interaction ◽  
Symptom Burden ◽  
Advanced Stage ◽  
Risk Of Mortality

Abstract Purpose of Review We explore the sex-specific interaction of genetics and the environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM). Recent Findings Women account for approximately one-third of patients in specialist HCM centres and reported in observational studies. As a result, evidence informing clinical guideline recommendations is based predominantly on risk factors and outcomes seen in men. However, disease progression appears to be different between the sexes. Women present at a more advanced stage of disease, are older at diagnosis, have higher symptom burden, carry greater risk for heart failure and are at greater risk of mortality compared to men. Women are more likely to be gene-positive, while men are more likely to be gene-negative. The risk of sudden cardiac death and access to specialised care do not differ between the sexes. Summary Reporting sex-disaggregated results is essential to identify the mechanisms leading to sex differences in HCM.

N-terminal pro-brain natriuretic peptide and sudden cardiac death in hypertrophic cardiomyopathy

Heart ◽  
2020 ◽  
pp. heartjnl-2020-317701
Author(s):  
Guixin Wu ◽  
Jie Liu ◽  
Shuiyun Wang ◽  
Shiqin Yu ◽  
Ce Zhang ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Brain Natriuretic Peptide ◽  
Natriuretic Peptide ◽  
Cardiac Death ◽  
Cardiac Fibrosis ◽  
Discrimination Performance ◽  
Net Reclassification Improvement ◽  
C Statistic ◽  
Increased Risk

ObjectiveElevated levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) are associated with heart failure-related death in hypertrophic cardiomyopathy (HCM), but the relationship between NT-proBNP level and sudden cardiac death (SCD) in HCM remains undefined.MethodsThe study prospectively enrolled 977 unrelated patients with HCM with available NT-proBNP results who were prospectively enrolled and followed for 3.0±2.1 years. The Harrell’s C-statistic under the receiver operating characteristic curve was calculated to evaluate discrimination performance. A combination model was constructed by adding NT-proBNP tertiles to the HCM Risk-SCD model. The correlation between log NT-proBNP level and cardiac fibrosis as measured by late gadolinium enhancement (LGE) or Masson’s staining was analysed.ResultsDuring follow-up, 29 patients had SCD. Increased log NT-proBNP levels were associated with an increased risk of SCD events (adjusted HR 22.27, 95% CI 10.93 to 65.63, p<0.001). The C-statistic of NT-proBNP in predicting SCD events was 0.80 (p<0.001). The combined model significantly improved the predictive efficiency of the HCM Risk-SCD model from 0.72 to 0.81 (p<0.05), with a relative integrated discrimination improvement of 0.002 (p<0.001) and net reclassification improvement of 0.67 (p<0.001). Furthermore, log NT-proBNP levels were significantly correlated with cardiac fibrosis as detected either by LGE (r=0.257, p<0.001) or by Masson’s trichrome staining in the myocardium (r=0.198, p<0.05).ConclusionNT-proBNP is an independent predictor of SCD in patients with HCM and may help with risk stratification of this disease.

scholarly journals QTc duration and QRS fragmentation on baseline ECG relate to sustained ventricular tachyarrhythmia and sudden cardiac death in hypertrophic cardiomyopathy

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P2954-P2954
Author(s):  
P. Debonnaire ◽  
S. Katsanos ◽  
E. Joyce ◽  
O. V. W. Van Den Brinck ◽  
D. E. Atsma ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Tachyarrhythmia ◽  
Qrs Fragmentation

Sudden cardiac arrest in 15-year-old girl. Could it be avoided?

2018 ◽  
Vol 1 (46) ◽  
pp. 43-48
Author(s):  
Maria Posadowska ◽  
Maria Miszczak-Knecht ◽  
Alicja Mirecka-Rola ◽  
Katarzyna Bieganowska
Keyword(s):  
Cardiac Arrest ◽  
Hypertrophic Cardiomyopathy ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest ◽  
Postmortem Examination ◽  
Cardiac Care ◽  
Related Family ◽  
Asymptomatic Patients ◽  
History Of ◽  
Genetically Determined

We present a case of a 15-year-old girl after sudden cardiac arrest because of ventricular fibrillation. Hypertrophic cardiomyopathy was diagnosed. Family history of patient was positive – her uncle (mother’s brother) died suddenly at the age of 21, postmortem examination showed hypertrophic cardiomyopathy. The deceased man’s family was not under cardiac care. The presented case proves, that due to genetically determined cardiac diseases such as cardiomyopathies and channelopathies, all related family members should be examined cardiologically. Diagnosis of the disease in asymptomatic patients would allow the implementation of treatment and reduce the risk of a sudden cardiac arrest / sudden cardiac death.

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

2021 ◽  
pp. 1-2
Author(s):  
Sedigheh Saedi ◽  
Pooneh Pashapour ◽  
Golnaz Houshmand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tricuspid Valve ◽  
Cardiac Death ◽  
Rare Case ◽  
Protein Gene ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Congenital Disease ◽  
Ventricular Cardiomyopathy ◽  
Sarcomeric Protein

Abstract Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

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