Ethnic and sex-related differences at presentation in apical hypertrophic cardiomyopathy: An observational

Shafik Khoury1, Raghav T Bhatia1, Sarandeep Marwaha1

  • 1Cardiovascular Clinical Academic Group, St. George's, University of London, St. George's University Hospitals NHS Foundation Trust, United Kingdom.

Insights

Ethnicity and sex influence apical hypertrophic cardiomyopathy (ApHCM) presentation. Black patients and hypertensive males show mixed hypertrophy, while females present later with fewer ECG changes.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Apical hypertrophic cardiomyopathy (ApHCM) is a distinct form of hypertrophic cardiomyopathy.
  • Understanding variations in clinical presentation and cardiovascular magnetic resonance (CMR) findings is crucial for patient management.
  • Investigating the impact of ethnicity and sex can reveal important demographic differences in ApHCM.

Purpose of the Study:

  • To determine if ethnicity and sex are associated with different clinical presentations of ApHCM.
  • To identify variations in cardiovascular magnetic resonance (CMR) findings based on ethnicity and sex in ApHCM patients.
  • To explore demographic and clinical differences in ApHCM patients.

Main Methods:

  • Retrospective observational cohort study of 150 consecutive ApHCM patients from a UK tertiary referral center (2010-2020).
  • Data collected included demographics, clinical information, 12-lead electrocardiogram (ECG), and CMR findings.
  • ApHCM phenotypes were classified as 'pure' (isolated apical hypertrophy) or 'mixed' (apical and septal hypertrophy with greater apical wall thickness).

Main Results:

  • Females were diagnosed later than males, exhibiting less prominent ECG changes, higher left atrial area index, and increased hypertension.
  • Black patients showed higher left ventricular mass index, more hypertension, and a higher prevalence of the 'mixed' ApHCM type.
  • Hypertensive males predominantly presented with the 'mixed' phenotype.

Conclusions:

  • Black ethnicity and male sex with hypertension are linked to mixed apical and basal hypertrophy.
  • White, Asian, and non-hypertensive males tend to have hypertrophy confined to the apex.
  • Females present at an older age and are less likely to exhibit deep T-wave inversion on ECG.
Abstract

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
16
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
15
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
12
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
11
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
9