scholarly journals Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1889
Author(s):  
Yolanda Rico ◽  
Maria Francisca Ramis ◽  
Montse Massot ◽  
Laura Torres-Juan ◽  
Jaume Pons ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Dilated Cardiomyopathy ◽  
Sudden Cardiac Arrest ◽  
Left Ventricular ◽  
Heterozygous Mutation ◽  
Her Family ◽  
Terminal Domain ◽  
Familial Dilated Cardiomyopathy ◽  
Family Medical History ◽  
History Of

Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM.

scholarly journals Cardiomyopathies: An Overview

2021 ◽  
Vol 22 (14) ◽  
pp. 7722
Author(s):  
Tiziana Ciarambino ◽  
Giovanni Menna ◽  
Gennaro Sansone ◽  
Mauro Giordano
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Dilated Cardiomyopathy ◽  
Sudden Cardiac Arrest ◽  
Restrictive Cardiomyopathy ◽  
The United States ◽  
Abrupt Onset ◽  
Left Ventricular ◽  
Arrhythmogenic Cardiomyopathy ◽  
Athletic Field ◽  
Fibrofatty Tissue

Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. Aims: The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management. Methods: Clinical trials were identified by Pubmed until 30 March 2021. The search keywords were “cardiomyopathies, sudden cardiac arrest, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy, arrhythmogenic cardiomyopathy (ARCV), takotsubo syndrome”. Results: Hypertrophic cardiomyopathy (HCM) is the most common primary cardiomyopathy, with a prevalence of 1:500 persons. Dilated cardiomyopathy (DCM) has a prevalence of 1:2500 and is the leading indication for heart transplantation. Restrictive cardiomyopathy (RCM) is the least common of the major cardiomyopathies, representing 2% to 5% of cases. Arrhythmogenic cardiomyopathy (ARCV) is a pathology characterized by the substitution of the myocardium by fibrofatty tissue. Takotsubo cardiomyopathy is defined as an abrupt onset of left ventricular dysfunction in response to severe emotional or physiologic stress. Conclusion: In particular, it has been reported that HCM is the most important cause of sudden death on the athletic field in the United States. It is needless to say how important it is to know which changes in the heart due to physical activity are normal, and when they are pathological.

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.

scholarly journals Analysis of the incidence and baseline predictors of the left ventricular ejection fraction returning to normal after dilated cardiomyopathy in postmenopausal women: a retrospective, observational study

2020 ◽  
Vol 48 (5) ◽  
pp. 030006052092247
Author(s):  
Xiaopin Yuan ◽  
Shuai Mao ◽  
Qizhu Tang
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Postmenopausal Women ◽  
Systolic Pressure ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
History Of

Objective To analyse the incidence and baseline predictors of the left ventricular ejection fraction (LVEF) returning to normal after dilated cardiomyopathy (DCM) following intervention with standard anti-heart failure (HF) medication in postmenopausal women. Methods Data from consecutive postmenopausal women who were first diagnosed with DCM and received anti-HF treatment during 2011 to 2018 were prospectively retrieved. The study population was divided into the LVEF recovery (LVR) group and the LVEF unrecovered (LVU) group according to whether LVEF was > 50%. The primary endpoint was baseline predictors of LVEF returning to normal. Results LVEF returned to normal in 49.3% (210/426) of patients with DCM. LVEF was significantly higher in the LVR group than in the LVU group (57.4% ± 6.9% vs 44.2% ± 5.3%; hazard ratio 1.312, 95% confidence interval 1.015–1.726) at the final follow-up. High systolic pressure, a short history of HF, a short QRS interval, a small left ventricular end-diastolic diameter (LVEDd), and high LVEF at admission were independent predictors of LVEF returning to normal. Conclusions LVEF returning to normal in postmenopausal women with DCM who receive standard anti-HF treatment is associated with systolic pressure, a history of HF, QRS interval, LVEDd, LVEF at admission, and favourable outcome.

Possible GoLytely-Associated Cardiac Arrest: A Case Report and Literature Review

2019 ◽  
Vol 33 (3) ◽  
pp. 364-367 ◽  
Author(s):  
Yoonsun Mo ◽  
Shiv Gandhi ◽  
Jose Orsini
Keyword(s):  
Cardiac Arrest ◽  
Abdominal Pain ◽  
Sudden Cardiac Arrest ◽  
Lower Abdominal Pain ◽  
The Past ◽  
Life Threatening ◽  
History Of ◽  
Artery Disease ◽  
Possible Cause

Purpose: To report a case of sudden cardiac arrest possibly associated with the administration of GoLytely® (polyethylene glycol 3350 and electrolytes). Summary: A 60-year-old male with a history of hypertension, hyperlipidemia, type 2 diabetes, and coronary artery disease presented to the emergency department with complaints of constipation and lower abdominal pain over the past week, and the inability to urinate over the past day. The patient had received GoLytely as treatment to alleviate symptoms of constipation and abdominal pain. However, several hours after administration of the bowel prep solution, the patient suffered an episode of cardiac arrest. After ruling out other possible etiologies, GoLytely was suspected as a possible cause of cardiac arrest. The patient had suffered an anoxic brain injury and remained intubated and unconscious until he eventually expired, 20 days after the event. Conclusion: Although GoLytely appears to be a safe agent with fewer side effects, clinicians need to be mindful of potential life-threatening adverse events following GoLytely administration and monitor patients closely during and after administration.

scholarly journals Electrocardiographic versus echocardiographic left ventricular hypertrophy and sudden cardiac arrest in the community

Heart Rhythm ◽  
2014 ◽  
Vol 11 (6) ◽  
pp. 1040-1046 ◽  
Author(s):  
Kumar Narayanan ◽  
Kyndaron Reinier ◽  
Carmen Teodorescu ◽  
Audrey Uy-Evanado ◽  
Harpriya Chugh ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Sudden Cardiac Arrest ◽  
Left Ventricular

Sudden Cardiac Arrest during Adenotonsillectomy in a Patient with Subclinical Duchenne's Muscular Dystrophy

1993 ◽  
Vol 72 (2) ◽  
pp. 130-131 ◽  
Author(s):  
Nick C. Benton ◽  
Robert A. Wolgat
Keyword(s):  
Cardiac Arrest ◽  
Muscular Dystrophy ◽  
General Anesthesia ◽  
Case Reports ◽  
Sudden Cardiac Arrest ◽  
Elevated Serum ◽  
Serum Creatine Kinase ◽  
Strong Family History ◽  
History Of ◽  
Duchenne's Muscular Dystrophy

We describe a four-year-old boy of Indian descent who had elective adenotonsillectomy for chronic sore throat and partial airway obstruction. About 10 minutes into the procedure, the patient suddenly developed cardiac asystole. After prolonged cardiac resuscitation, recovery was achieved. No permanent neurologic deficits resulted. The child was later found to have a strong family history of Duchenne's muscular dystrophy (DMD) and an elevated serum creatine kinase level documented since shortly after birth. We reviewed several case reports substantiating the risk for cardiac arrest during general anesthesia in DMD patients, and we concluded that DMD is a little-known risk for cardiac arrest during general anesthesia. The otolaryngologist must be aware of this potential complication, because tonsillectomy and adenoidectomy are commonly indicated for children at an age when DMD may be subclinical.

scholarly journals Predictors of sudden cardiac arrest in adolescents with mitral valve prolapse: an analysis of the nationwide inpatient sample

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
B Narasimhan ◽  
L Wu ◽  
C.H Lucas ◽  
K Bhatia ◽  
A Shah ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Family History ◽  
Sudden Cardiac Death ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Mitral Valve Prolapse ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest ◽  
Adolescent Patients ◽  
History Of

Abstract Background Mitral valve prolapse (MVP) is the most commonly encountered valvular pathology seen in 2–3% of the general population. Though traditionally regarded as a benign pathology, recent literature suggests that sudden cardiac death is significantly more common in these patients with estimates of 0.2–0.4%/year. The exact underlying mechanism of these higher rates of SCD remain poorly understood. In this study, we aim to identify predictors of sudden cardiac arrest (SCA) in an adolescent population. Methods We conducted a retrospective study using the AHRQ-HCUP National Inpatient Sample 2016-2017 for the years 2016-17. All patients (≤18 years) admitted with Mitral valve prolapse were identified using ICD-10 codes and further sub stratified based on presence or absence of sudden cardiac arrest (SCA). Baseline characteristics were obtained and multivariate regression analysis was utilized to identify potential predictors of SCA. Independent risk factors for in-hospital mortality were identified using a proportional hazards model. Complications were defined as per the Agency for Health Care Research and Quality guideline. Results We screened a total of 71,473,874 admissions in the NIS database to identify a total of 1,372 adolescent patients admitted with MVP in the years 2016–17. These patients were then sub-categorized based on presence or absence of SCA during the hospitalization. Our findings revealed that patients with SCA were generally slightly older (15y vs 13y, p=0.036, OR-1.1, p=0.007) and more likely female (83.3% vs 13%, p=0.227, OR – 3.55, p=0.57)). Interestingly, patients in the SCA cohort were noted to have almost 4 fold higher rates of Mitral regurgitation (66.6% vs 18.35%, p=0.008, OR-8.89, p=0.005) as well as family history of SCD (16.7% vs 4.1%, p=0.145, OR-4.65, p=0.14). Conclusions Presence of Mitral regurgitation and a family history of sudden cardiac death are associated with significantly higher rates of SCA in adolescent patients with mitral valve prolapse. Predictors of SCA in Adolescent MVP Funding Acknowledgement Type of funding source: None

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