scholarly journals Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001560
Author(s):  
Alejandro E de Feria ◽  
Andrew E Kott ◽  
Jason R Becker
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Myocardial Hypertrophy ◽  
Gene Mutations ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Left Ventricular Outflow ◽  
History Of ◽  
Clinical Phenotyping

BackgroundDespite advances in our understanding of the genetic causes of hypertrophic cardiomyopathy (HCM), a large portion of this patient population do not carry sarcomere gene mutations when screened. It remains largely unknown why patients without sarcomere mutations develop asymmetric myocardial hypertrophy.MethodsWe performed a retrospective analysis of probands with HCM who underwent genetic testing to determine if clinical phenotypes were different depending on sarcomere mutation status. A medical history, three generation family history and clinical phenotyping were performed on 127 probands with HCM. Genetic screening was performed using clinically available HCM genetic testing panels.ResultsWe found that probands with HCM with pathogenic sarcomere mutations were over three times more likely to have a family history of HCM (66% vs 17%, p<0.0001) and were diagnosed with HCM at a much younger age (32 vs 51 years old, p<0.0001). In contrast, probands with HCM without sarcomere mutations were significantly more obese (body surface area p=0.003, body mass index p=0.04 adjusted for age) and were more likely to present with left ventricular outflow tract obstruction (p=0.0483).ConclusionPatients with sarcomere mutation negative HCM present at an older age and are more obese compared with patients with sarcomere mutation positive HCM. The role of ageing and obesity in asymmetric myocardial hypertrophy warrants further investigation.

scholarly journals Outcomes following transaortic septal myectomy in hypertrophic cardiomyopathy

2020 ◽  
Vol 7 (4) ◽  
pp. 1270
Author(s):  
Madhusudan Kummari ◽  
Amaresh Rao Malempati ◽  
Surya S. Gopal Palanki ◽  
Kaladhar Bomma
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Mitral Valve ◽  
Cardiac Death ◽  
Left Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Septal Myectomy ◽  
Left Ventricular Outflow ◽  
History Of ◽  
The Mean

Background: The objective of the study was to evaluate effect of myectomy and its impact on survival for a period of one year and to identify the co-morbid conditions that would increase the risk of surgery.Methods: The study was conducted on the patients admitted in a single unit of department of cardiothoracic surgery, NIMS, Hyderabad during the period of 2014 to 2018. The study was a retrospective observational study. 21 patients were enrolled in the study after approval from institute ethics committee. All the patients between 7 to 70 years who underwent septal myectomy were included in the study.Results: Out of the 21 patients underwent modified Morrows myectomy 16 (76.2%) were male and 5 (23.8%) were female. The most common presenting symptom was dyspnea (81%), followed chest pain (76%), palpitations (62%) and syncope (38%). 5 (24%) patients had a family history of sudden cardiac death. Preoperative beta blockers were used by 15 (72%) patients. 11 patients had severe mitral regurgitation, out of which 8 patients underwent valve replacement and 3 underwent mitral valve repair. The mean preoperative left ventricular outflow tract obstruction gradient was 86.86 and the mean postoperative gradient was 23.47. 3 patients had implantable cardioverter defibrillator insertions. All patients had symptom relief.Conclusions: Surgical treatment of hypertrophic cardiomyopathy through transaortic septal myectomy is safe and effective method to relieve left ventricular outflow tract obstruction. Mitral valve replacement can be done for cases with structural defect of mitral valve. Early detection and intervention in patients with family history of sudden cardiac death would reduce the risk of death and ensure long term survival.

P890Gene carriers of hypertrophic cardiomyopathy, what to expect over time

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
P Poveda Velazquez ◽  
J Basu ◽  
T Homfray ◽  
M Papadakis ◽  
E Behr ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Age Groups ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Cascade Screening ◽  
Cardiac Symptoms ◽  
History Of ◽  
Mybpc3 Gene

Abstract Background Data on the natural history of genotype positive/phenotype negative (G+/P-) hypertrophic cardiomyopathy (HCM) patients identified as a part of genetic cascade screening in different age groups is limited. Purpose To describe the rate of conversion to overt HCM phenotype in G+/P- subjects in relation with the age who were identified in a specialized clinic in a single center. Methods We retrospectively identified 56 consecutive HCM G+/P− subjects followed in our center specialized clinic between Jan 2012-Jan 2019. Demographics, family history of sudden cardiac death (SCD) and presence of symptoms were collected. All of them underwent baseline investigations including ECG, echocardiogram and/or cardiac magnetic resonance (CMR) and 24 hour monitor at baseline and during follow up. Overt HCM phenotype was defined as left ventricular hypertrophy (LVH) ≥13mm in the echocardiogram or CMR. Results We identified 56 HCM G+/P− subjects from 34 different families. 22 subjects were ≤18 years old with a mean age of 11.6±0.9 years (IQR [P25-P75] 9–16 years) and 32 subjects were >18 years old with a mean age of 38.1±2.2 years (IQR [P25-P75] 27–48 years). Mean time of follow up was 35.2±34.4 months (IQR [P25-P75] 4.25–50.25 years). 60.7% (34) of them were female and 82.1% (46) were of Caucasian ethnicity. Most of the subjects with no evidence LVH were asymptomatic but small number had symptoms, 8.9% (5), and 3.6% (2) were treated with betablockers for palpitations. Family history of SCD was present in 57.1% (32) of the subjects and 35.7% (20) had a relative with an implantable cardiac defibrillator (ICD). MYBPC3 gene mutations were identified in 62.5% (35) of subjects, followed by MYH7 gene mutation in 23.2% (13) of the cases. None of the subjects under 18 year old developed HCM during the period of observation, however 7 subjects (21.9%), mean age 48.6±10.5 years, 71.4% (5) females, showed progression to HCM in the >18 years old group. All of them had pathogenic MYBPC3 gene variants. No differences were found in gender, ethnicity, symptoms or family history of SCD in the G+/P− vs HCM group. There were no differences on the presence of ECG abnormalities and no episodes of NSVT were recorded in any of the groups. Baseline E/e' values of those with new HCM vs G+/P− were higher (8.2±3.3 vs 5.6±1.7, p=0.014). Conclusions In our cohort, rate of progression to HCM phenotype was 21.9% of >18 years old HCM G+/P- subjects. The mean age at the time of developing the phenotype was 48.6±10.5 years old and all the patients were asymptomatic for cardiac symptoms. Echocardiographic E/e' values were increased. This data supports the need of life long follow up of this group of patients with ongoing clinical evaluation. Acknowledgement/Funding ESC clinical grant

Abstract 15391: The Natural History of Asymptomatic and Mildly Symptomatic Obstructive Hypertrophic Cardiomyopathy: Insights From the Share Registry

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Monica Ahluwalia ◽  
Larry Han ◽  
iacopo olivotto ◽  
Euan A Ashley ◽  
Michelle Michels ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Natural History ◽  
Management Strategies ◽  
Composite Endpoint ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Increased Risk ◽  
Obstructive Hypertrophic Cardiomyopathy ◽  
Left Ventricular Outflow ◽  
History Of

Background: Contemporary studies are needed to determine the natural history of asymptomatic and mildly symptomatic patients with obstructive hypertrophic cardiomyopathy (oHCM). Methods: Patients with HCM, peak left ventricular outflow tract (LVOT) gradient ≥30 mm Hg (at rest, post-Valsalva, or exercise) and baseline NYHA I-II symptoms were identified using the multicenter Sarcomeric Human Cardiomyopathy Registry (SHaRe). Patients with prior atrial fibrillation (AF) or septal reduction therapies (SRT) were excluded. Incident outcomes, including the composite of NYHA III-IV symptoms, AF or SRT, were related to LVOT using Kaplan-Meier analysis (LVOT tertiles) and Cox proportion hazard models, controlling for age, sex, race, proband status, sarcomere status, hypertension and left atrial diameter. Results: At baseline, the 1048 patients who met inclusion criteria were 52.0 ± 16.1 yrs, 48.9% female, 34.9% sarcomere mutation +, with mean LVOT gradient 72 ± 39mm Hg. Over 8.6 years follow up (IQR 2.3, 13.6), progression to the composite endpoint ocurred in 530 (50.6%) and 92 (8.8%) died. Patients in the highest tertile of LVOT gradient (>84 mm Hg) were at increased risk of the composite endpoint (Figure). Every 10 mm Hg increase in LVOT gradient was associated with increased risk of incident NYHA III-IV HF (HR 1.04, 95% CI 1.00, 1.08, p=0.04), SRT (HR 1.07, 95% CI 1.04, 1.09, p<0.001) and the composite endpoint (HR 1.03, 95% CI 1.01, 1.06, p=0.003), but not incident AF (HR 1.02, p=0.39) or death (HR 0.99, p=0.3). Older age (HR 1.01, 95% CI 1.00-1.03, p=0.03), black race (HR 1.73, 95% CI 1.11-2.69, p=0.02) and sarcomere mutations (HR 1.27, 95% CI 1.02-1.59, p=0.03) were also associated with increased risk of the composite endpoint. Conclusions: In oHCM patients with NYHA I-II symptoms, the LVOT gradient appears to predict worsening symptoms and need for SRT, but not AF or overall survival. These findings have implications for refining management strategies for oHCM.

scholarly journals Norepinephrine-associated left ventricular outflow tract obstruction and systolic anterior movement

2019 ◽  
Vol 12 (12) ◽  
pp. e225879 ◽  
Author(s):  
Warner Mbuila Mampuya ◽  
Jonathan Dumont ◽  
Francois Lamontagne
Keyword(s):  
Blood Pressure ◽  
Left Ventricular Outflow Tract ◽  
Myocardial Hypertrophy ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Outflow Tract ◽  
Increase Blood Pressure ◽  
Ventricular Outflow Tract Obstruction ◽  
Left Ventricular Outflow ◽  
Systolic Anterior Movement

In the perioperative setting, norepinephrine is used to increase blood pressure, an effect mediated mostly via arterial and venous vasoconstriction. Thus, norepinephrine is, allegedly, less likely to cause or worsen left ventricular outflow tract obstruction (LVOTO) than other inotropes. We report a case of norepinephrine-associated dynamic LVOTO and systolic anterior movement in a predisposed patient. This report highlights that unrecognised dynamic LVOTO may worsen shock parameters in patients treated with norepinephrine who have underlying myocardial hypertrophy.

scholarly journals Anesthetic Challenges in the Management of Intracranial Aneurysm Clipping in a Patient with Hypertrophic Cardiomyopathy

2020 ◽  
Author(s):  
Sakshi Duggal ◽  
Priyanka Khurana ◽  
Pragati Ganjoo ◽  
Nilima Das
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Perioperative Complications ◽  
Artery Aneurysm ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Anterior Communicating Artery ◽  
Drug Selection ◽  
Aneurysm Clipping ◽  
Left Ventricular Outflow ◽  
Life Threatening

AbstractAneurysmal surgeries are high-risk procedures due to potential for occurrence of fatal perioperative complications. This risk is exaggerated in the presence of co-existing hypertrophic cardiomyopathy (HCM). It involves asymmetrical hypertrophy of left ventricle with mitral valve dysfunction, leading to left ventricular outflow tract obstruction. Various perioperative factors may precipitate this obstruction resulting in life-threatening consequences. We report the management of a patient with HCM undergoing anterior communicating artery aneurysm clipping and discuss the anesthetic concerns. Comprehensive approach with careful drug selection, vigilant monitoring, and preparedness for complications enabled patient safety and a good neurological outcome.

scholarly journals Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Bronwyn Harris ◽  
Jean P. Pfotenhauer ◽  
Cheri A. Silverstein ◽  
Larry W. Markham ◽  
Kim Schafer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Mutational Analysis ◽  
Clinical Findings ◽  
Dominant Mode ◽  
Natural Mother ◽  
History Of ◽  
In Cis ◽  
Inherited Cardiac Disease

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variantsin cismay be a “malignant” variant that imparts a poor prognosis in terms of the disease progression and SCD risk.

Angina Pectoris Due to Severe Muscular Bridge in Hypertrophic Cardiomyopathy

1998 ◽  
Vol 6 (2) ◽  
pp. 132-134
Author(s):  
M Şah Topcuoĝlu ◽  
Ayhan Usal ◽  
Cem Kayhan ◽  
Aladdin Pekedis ◽  
Acar Tokcan ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Calcium Antagonist ◽  
Hypertrophic Cardiomyopathy ◽  
Angina Pectoris ◽  
Left Ventricular Outflow Tract ◽  
Young Patients ◽  
Ventricular Outflow Tract ◽  
Myocardial Scintigraphy ◽  
Left Ventricular ◽  
Left Ventricular Outflow

We report the case of a 39-year-old male with hypertrophic cardiomyopathy who complained of angina pectoris. The patient was treated with a beta blocker and a calcium antagonist without effect. Myocardial scintigraphy revealed anterior ischemia. Cardiac catheterization and ventriculography revealed severe systolic narrowing of the left anterior descending coronary artery and no significant pressure gradient across the left ventricular outflow tract. Myotomy was performed on a muscular bridge over the left anterior descending coronary artery and the patient's angina was relieved. In young patients with hypertrophic cardiomyopathy who develop angina refractory to medical therapy, a coexisting muscular bridge should be sought.

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