scholarly journals Coexistence of sudden cardiac death and end-stage heart failure in familial hypertrophic cardiomyopathy

1993 ◽  
Vol 22 (2) ◽  
pp. 489-497 ◽  
Author(s):  
Gabriela M. Hecht ◽  
Heinrich G. Klues ◽  
William C. Roberts ◽  
Barry J. Maron
Keyword(s):  
Heart Failure ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Familial Hypertrophic Cardiomyopathy ◽  
End Stage Heart Failure ◽  
End Stage

Apical Segmental Dysfunction in Hypertrophic Cardiomyopathy: Progression into End-Stage Heart Failure with Sudden Cardiac Death

Cardiology ◽  
1995 ◽  
Vol 86 (5) ◽  
pp. 436-440 ◽  
Author(s):  
Yu-Lin Ko ◽  
Jiunn-Lee Lin ◽  
Meng-Huan Lei ◽  
Jin-Jer Chen ◽  
Shi-Sheng Tsou ◽  
...  
Keyword(s):  
Heart Failure ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Segmental Dysfunction ◽  
End Stage Heart Failure ◽  
End Stage

Rare presentation of Fabry disease as ‘burnt-out’ hypertrophic cardiomyopathy

2021 ◽  
Vol 14 (9) ◽  
pp. e243604
Author(s):  
Sam Williams ◽  
Ahmed El-Medany ◽  
Angus Nightingale ◽  
Yasmin Ismail
Keyword(s):  
Heart Failure ◽  
Hypertrophic Cardiomyopathy ◽  
Fabry Disease ◽  
Left Ventricular ◽  
Diagnostic Tools ◽  
Lysosomal Storage ◽  
Rare Presentation ◽  
Enzyme Replacement ◽  
End Stage Heart Failure ◽  
End Stage

We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy and then ‘burnt-out phase’ of HCM but subsequently the underlying diagnosis was Fabry disease. Fabry disease is an uncommon lysosomal-storage disease due to reduced or absent activity of the alpha-galactosidase A enzyme. Cardiac involvement most frequently comprises left ventricular hypertrophy. Early treatment of the underlying condition with enzyme replacement therapy may prevent the progression to end-stage heart failure. Fabry disease should be considered in all patients presenting with a clinical phenotype of HCM and a historical diagnosis should be re-evaluated in light of new diagnostic tools. Untreated Fabry can progress to a ‘burnt out’ phase, whereby initial hypertrophy undergoes eccentric remodelling to a dilated, severely impaired left ventricle.

scholarly journals Hypertrophic cardiomyopathy: Translating cellular cross talk into therapeutics

2012 ◽  
Vol 199 (3) ◽  
pp. 417-421 ◽  
Author(s):  
Polakit Teekakirikul ◽  
Robert F. Padera ◽  
J.G. Seidman ◽  
Christine E. Seidman
Keyword(s):  
Heart Failure ◽  
Heart Disease ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Mouse Models ◽  
Clinical Diagnosis ◽  
Cardiac Death ◽  
Clinical Manifestations ◽  
Biochemical Properties ◽  
Adverse Outcomes

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with serious adverse outcomes, including heart failure, arrhythmias, and sudden cardiac death. The discovery that mutations in sarcomere protein genes cause HCM has enabled the development of mouse models that recapitulate clinical manifestations of disease. Studies in these models have provided unexpected insights into the biophysical and biochemical properties of mutated contractile proteins and may help to improve clinical diagnosis and management of patients with HCM.

scholarly journals Sudden Cardiac Death in Three Generations of the Same Family: A case report

2015 ◽  
Vol 8 (1) ◽  
pp. 73-77
Author(s):  
MM Zahurul Alam Khan ◽  
Abdul Wadud Chowdhury ◽  
Tunaggina Afrin Khan ◽  
Md Gaffar Amin ◽  
Md Nur Alam ◽  
...  
Keyword(s):  
Heart Failure ◽  
Young Adults ◽  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Premature Death ◽  
Young Person ◽  
Current Case ◽  
History Of

Every one of us has heard about tragic and sudden death of a healthy young person and which is often stated as ‘inexplicable’. The current case report focuses on a 20 year old young man with hypertrophic cardiomyopathy facing premature death with history of similar sudden premature death of his grandmother, father and brother. Hypertrophic cardiomyopathy is the commonest cause of sudden cardiac death in young adults and is also an important substrate for heart failure disability at any age.Cardiovasc. j. 2015; 8(1): 73-77

Sudden cardiac death in familial hypertrophic cardiomyopathy: are “benign” mutations really benign?

Pathology ◽  
1997 ◽  
Vol 29 (3) ◽  
pp. 305-308 ◽  
Author(s):  
C. Semsarian ◽  
B. Yu ◽  
C. Ryce ◽  
C. Lawrence ◽  
H. Washington ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Familial Hypertrophic Cardiomyopathy

scholarly journals Hypertrophic Cardiomyopathy: A Review

2014 ◽  
Vol 8s1 ◽  
pp. CMC.S15717 ◽  
Author(s):  
Brian A. Houston ◽  
Gerin R. Stevens
Keyword(s):  
Heart Failure ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Clinical Syndrome ◽  
Monogenic Disease ◽  
Sarcomeric Genes ◽  
Ethnic Origins

Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both genders and of various racial and ethnic origins. Widely accepted as a monogenic disease caused by a mutation in 1 of 13 or more sarcomeric genes, HCM can present catastrophically with sudden cardiac death (SCD) or ventricular arrhythmias or insidiously with symptoms of heart failure. Given the velocity of progress in both the fields of heart failure and HCM, we present a review of the approach to patients with HCM, with particular attention to those with HCM and the clinical syndrome of heart failure.

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