What is the clinical evidence from this study?

Study design: Observational. Population: Dilated cardiomyopathy (n=80). Intervention: Male sex (in RBM20 variant carriers) vs. Female sex. Primary outcome: Need for cardiac transplant among affected individuals (p=<0.001).

What question did this study set out to answer?

To evaluate the clinical features, penetrance, and sex-specific disease severity associated with pathogenic RBM20 variants in families with dilated cardiomyopathy.

March 1, 2019Circulation Heart FailureOpen Access

Pathogenic RBM20 -Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

Q: What are the key findings of this study?

Male carriers of pathogenic RBM20 variants exhibited more severe dilated cardiomyopathy than females, with 35.5% of affected males requiring a cardiac transplant versus 0% of affected females (P<0.001).

Q: What question did this study set out to answer?

To evaluate the clinical features, penetrance, and sex-specific disease severity associated with pathogenic RBM20 variants in families with dilated cardiomyopathy.

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Key result

Male RBM20 variant carriers exhibit more severe DCM than affected females, with ~36% requiring transplants.

P<0.001
n=80

Why the study?

Because pathogenic RBM20 variants occur in 6% of Danish patients with dilated cardiomyopathy, the study aimed to investigate the associated disease expression in affected families.

Are pathogenic RBM20 variants associated with a more severe disease expression in male compared to female patients with dilated cardiomyopathy?

Population

80 individuals from 15 families carrying 5 pathogenic RBM20 variants

Comparison

Male vs female pathogenic RBM20 variant carriers

Design

Observational family cohort study

Authors

THThomas Morris HeyHeart Failure / Cardiomyopathy TRTorsten B. RasmussenHeart Failure & Transplant TMTrine MadsenUniversity of Copenhagen

Discussion

Member takes

Overview

Male RBM20 carriers may warrant intensified surveillance; leaves open whether sex-specific management improves outcomes.

Key Points

To evaluate the clinical features, penetrance, and sex-specific disease severity associated with pathogenic RBM20 variants in families with dilated cardiomyopathy.
Screened index patients and relatives across 15 families, identifying 80 individuals carrying 5 pathogenic RBM20 variants meeting ACMG criteria, allele frequency <1:10,000, and segregation in ≥7 affected relatives.
Performed comprehensive clinical and cardiac evaluations alongside sequencing of ≥76 dilated cardiomyopathy-associated genes.
Disease penetrance was 66% (53/80), with affected males diagnosed at a significantly younger age (29±11 vs 48±12 years; P<0.01) and presenting with lower ejection fraction (29±13% vs 38±9%; P<0.01) than females.
Cardiac transplantation was required in 11 of 31 affected males compared with 0 of 22 females (P<0.001), contributing to significantly shorter event-free survival among male carriers (P<0.001).
Sudden cardiac death or severe ventricular arrhythmias occurred in 30% of RBM20 carriers with dilated cardiomyopathy, whereas no adverse events occurred in carriers with normal initial cardiac evaluations.

Study Design

Type

Observational (n=80)

Structured PICO

Are pathogenic RBM20 variants associated with a more severe disease expression in male compared to female patients with dilated cardiomyopathy?

Population

80 individuals from 15 Danish families carrying 5 different pathogenic RBM20 variants (dilated cardiomyopathy index-patients and their relatives)

Intervention

Pathogenic RBM20 variants

Comparator

Male vs female carriers

Outcome

Disease expression including age at diagnosis, ejection fraction, need for cardiac transplant, sudden death, severe ventricular arrhythmias, and event-free survivalhard clinical

Main Result

Absolute Event Rate: 35.5% vs 0%

p-value: p=<0.001

Pathogenic RBM20 variants are associated with a highly penetrant and severe dilated cardiomyopathy phenotype, particularly in males who experience earlier onset, lower ejection fraction, and higher rates of cardiac transplantation.

Cite This Study

Hey et al. (2019) conducted an observational in Dilated cardiomyopathy (n=80). Male sex (in RBM20 variant carriers) vs. Female sex was evaluated on Need for cardiac transplant among affected individuals (p=<0.001). Male carriers of pathogenic RBM20 variants exhibited more severe dilated cardiomyopathy than females, with 35.5% of affected males requiring a cardiac transplant versus 0% of affected females (P<0.001).

synapsesocial.com/papers/6a0ec940aa1655e5fb22cc77 https://doi.org/10.1161/circheartfailure.118.005700

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March 1, 2019Circulation Heart FailureOpen Access

Pathogenic RBM20 -Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

View Full Paper

Ask AI

Bookmark

Key result

Male RBM20 variant carriers exhibit more severe DCM than affected females, with ~36% requiring transplants.

P<0.001
n=80

Why the study?

Because pathogenic RBM20 variants occur in 6% of Danish patients with dilated cardiomyopathy, the study aimed to investigate the associated disease expression in affected families.

Are pathogenic RBM20 variants associated with a more severe disease expression in male compared to female patients with dilated cardiomyopathy?

Population

80 individuals from 15 families carrying 5 pathogenic RBM20 variants

Comparison

Male vs female pathogenic RBM20 variant carriers

Design

Observational family cohort study

Authors

THThomas Morris HeyHeart Failure / Cardiomyopathy TRTorsten B. RasmussenHeart Failure & Transplant TMTrine MadsenUniversity of Copenhagen

Discussion

Member takes

Overview

Male RBM20 carriers may warrant intensified surveillance; leaves open whether sex-specific management improves outcomes.

Key Points

To evaluate the clinical features, penetrance, and sex-specific disease severity associated with pathogenic RBM20 variants in families with dilated cardiomyopathy.
Screened index patients and relatives across 15 families, identifying 80 individuals carrying 5 pathogenic RBM20 variants meeting ACMG criteria, allele frequency <1:10,000, and segregation in ≥7 affected relatives.
Performed comprehensive clinical and cardiac evaluations alongside sequencing of ≥76 dilated cardiomyopathy-associated genes.
Disease penetrance was 66% (53/80), with affected males diagnosed at a significantly younger age (29±11 vs 48±12 years; P<0.01) and presenting with lower ejection fraction (29±13% vs 38±9%; P<0.01) than females.
Cardiac transplantation was required in 11 of 31 affected males compared with 0 of 22 females (P<0.001), contributing to significantly shorter event-free survival among male carriers (P<0.001).
Sudden cardiac death or severe ventricular arrhythmias occurred in 30% of RBM20 carriers with dilated cardiomyopathy, whereas no adverse events occurred in carriers with normal initial cardiac evaluations.

Study Design

Type

Observational (n=80)

Structured PICO

Are pathogenic RBM20 variants associated with a more severe disease expression in male compared to female patients with dilated cardiomyopathy?

Population

80 individuals from 15 Danish families carrying 5 different pathogenic RBM20 variants (dilated cardiomyopathy index-patients and their relatives)

Intervention

Pathogenic RBM20 variants

Comparator

Male vs female carriers

Outcome

Disease expression including age at diagnosis, ejection fraction, need for cardiac transplant, sudden death, severe ventricular arrhythmias, and event-free survivalhard clinical

Main Result

Absolute Event Rate: 35.5% vs 0%

p-value: p=<0.001

Cite This Study

synapsesocial.com/papers/6a0ec940aa1655e5fb22cc77 https://doi.org/10.1161/circheartfailure.118.005700

Also Consider

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

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