What is the clinical evidence from this study?

Study design: Observational. Population: Hypertrophic cardiomyopathy (n=8). Intervention: Whole-exome sequencing. Primary outcome: Identification of rare genetic variants.

What question did this study set out to answer?

This pilot study aimed to identify rare genetic variants associated with hypertrophic cardiomyopathy in Egyptian patients to enhance future diagnosis and prevention.

July 23, 2026Cardiology in the Young

Whole-exome sequencing identifies rare genetic variants in Egyptian patients with hypertrophic cardiomyopathy: a pilot study

View Full Paper

Ask AI

Bookmark

Key result

Whole-exome sequencing identifies 21 rare variants linked to severe clinical phenotypes in Egyptian HCM patients.

Why the study?

Hypertrophic cardiomyopathy is a life-threatening disease with limited studies in Middle Eastern populations.

Population

8 unrelated Egyptian patients with hypertrophic cardiomyopathy

Design

Pilot study

Authors

RNRana E. Negm RGRefaat M. Gabre AEAhmed A. El-Sherif

Discussion

Member takes

Overview

May inform targeted screening in Egyptian HCM patients; leaves open validation before any practice change.

Key Points

This pilot study aimed to identify rare genetic variants associated with hypertrophic cardiomyopathy in Egyptian patients to enhance future diagnosis and prevention.
Whole-exome sequencing was performed on 8 unrelated Egyptian patients.
Variants were prioritized based on strict criteria including allele frequency and CADD scores.
Variants were classified according to ACMG/AMP guidelines and correlated with clinical phenotypes.
21 rare variants identified across 10 genes linked to hypertrophic cardiomyopathy.
Severe clinical phenotypes observed in patients with likely pathogenic variants, influencing treatment decisions.
Four novel or likely pathogenic variants submitted to ClinVar.

Study Design

Type

Observational (n=8)

Multicenter

Structured PICO

Population

8 unrelated Egyptian patients with hypertrophic cardiomyopathy evaluated via whole-exome sequencing.

Exposure

Whole-exome sequencing

Outcome

Identification of rare genetic variants associated with hypertrophic cardiomyopathysurrogate

Whole-exome sequencing in a pilot cohort of Egyptian patients with hypertrophic cardiomyopathy successfully identified rare pathogenic variants, expanding the global mutational spectrum of the disease.

Limitations

The sample size precludes establishing population-level prevalence.
sample size precludes establishing population-level prevalence

Cite This Study

Negm et al. (2026) conducted an observational in Hypertrophic cardiomyopathy (n=8). Whole-exome sequencing was evaluated on Identification of rare genetic variants. Whole-exome sequencing identified 21 rare variants across 10 hypertrophic cardiomyopathy-associated genes in 8 Egyptian patients, with pathogenic variants linked to severe clinical phenotypes.

synapsesocial.com/papers/6a61afe0faa9903c5116a9af https://doi.org/10.1017/s1047951126123622

View Full Paper

Ask AI

Bookmark

July 23, 2026Cardiology in the Young

Whole-exome sequencing identifies rare genetic variants in Egyptian patients with hypertrophic cardiomyopathy: a pilot study

View Full Paper

Ask AI

Bookmark

Key result

Whole-exome sequencing identifies 21 rare variants linked to severe clinical phenotypes in Egyptian HCM patients.

Why the study?

Hypertrophic cardiomyopathy is a life-threatening disease with limited studies in Middle Eastern populations.

Population

8 unrelated Egyptian patients with hypertrophic cardiomyopathy

Design

Pilot study

Authors

RNRana E. Negm RGRefaat M. Gabre AEAhmed A. El-Sherif

Discussion

Member takes

Overview

May inform targeted screening in Egyptian HCM patients; leaves open validation before any practice change.

Key Points

This pilot study aimed to identify rare genetic variants associated with hypertrophic cardiomyopathy in Egyptian patients to enhance future diagnosis and prevention.
Whole-exome sequencing was performed on 8 unrelated Egyptian patients.
Variants were prioritized based on strict criteria including allele frequency and CADD scores.
Variants were classified according to ACMG/AMP guidelines and correlated with clinical phenotypes.
21 rare variants identified across 10 genes linked to hypertrophic cardiomyopathy.
Severe clinical phenotypes observed in patients with likely pathogenic variants, influencing treatment decisions.
Four novel or likely pathogenic variants submitted to ClinVar.

Study Design

Type

Observational (n=8)

Multicenter

Structured PICO

Population

8 unrelated Egyptian patients with hypertrophic cardiomyopathy evaluated via whole-exome sequencing.

Exposure

Whole-exome sequencing

Outcome

Identification of rare genetic variants associated with hypertrophic cardiomyopathysurrogate

Limitations

The sample size precludes establishing population-level prevalence.
sample size precludes establishing population-level prevalence

Cite This Study

synapsesocial.com/papers/6a61afe0faa9903c5116a9af https://doi.org/10.1017/s1047951126123622

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark