Cardiol Res

Cardiology Research, ISSN 1923-2829 print, 1923-2837 online, Open Access

Article copyright, the authors; Journal compilation copyright, Cardiol Res and Elmer Press Inc

Journal website https://www.cardiologyres.org

Original Article

Volume 15, Number 4, August 2024, pages 233-245

Prevalence of Genetically Associated Dilated Cardiomyopathy: A Systematic Literature Review and Meta-Analysis

Figure 2. Median or weighted mean prevalence of overall genetic DCM in adults or adult/mixed populations (a), TTN-associated genetic DCM in adults or adult/mixed populations (b), and MYH7-associated genetic DCM in adults or adult/mixed populations (c). *Study was conducted only in the United States. ^aCalculated from the sample of DCM patients within the Penn Medicine BioBank. ^bCalculated from the sample of DCM patients within the Geisinger cohort. CI: confidence interval, calculated by reviewers; DCM: dilated cardiomyopathy; IQR: Interquartile range; n: numerator of calculation (e.g., number of overall genetic DCM patients); N: denominator of calculation (i.e., number of DCM patients); SD: weighted standard deviation.

Figure 3. Median or weighted mean prevalence of overall genetic DCM in children (a), TTN-associated genetic DCM in children (b), and MYH7-associated genetic DCM in children (c). *Study was conducted only in the United States. CI: confidence interval, calculated by reviewers; DCM: dilated cardiomyopathy; IQR: interquartile range; n: numerator of calculation (e.g., number of overall genetic DCM patients); N: denominator of calculation (i.e., number of DCM patients); SD: weighted standard deviation.

**Table 1.** Prevalence of Genetic DCM Within the Adult or Mixed Populations (Adults and Children)
Group	Number of studies	Median prevalence (IQR)/weighted mean prevalence^a (SD)	Median N (IQR)/total N^b	References
^aPrevalence median and interquartile range were reported unless fewer than 10 studies were included in the calculation, in which case a weighted mean and weighted standard deviation were presented. ^bDCM median sample size and interquartile range were reported unless fewer than 10 studies were included in the calculation, in which case the total sample size or the individual studies’ DCM samples sizes were presented. ^cData from UK BioBank (general population n = 166,690, DCM n = 336, genetic DCM n = 48). ^dData from UK BioBank (general population n = 18,665, DCM n = not provided, genetic DCM n = 5). Data are stratified by region and the denominator of the calculation (genetic DCM within the DCM population or within the general population). DCM: dilated cardiomyopathy; IQR: interquartile range; PMBB: Penn Medicine BioBank cohort; USA: United States of America; SD: weighted standard deviation.
Genetic DCM within the DCM population
Overall genetic DCM
Global	36	20.2% (16.3-36.0%)	226 (112 - 525)	[22-26, 28-34, 36, 38, 40, 44, 45, 47, 50, 52-58, 60-70]
USA only	3	15.2% (2.5)	1,057	[31, 34, 44]
TTN-associated DCM
Global	30	11.4% (8.2-17.8%)	230 (133 - 492)	[12, 21-26, 28, 29, 32-36, 40, 41, 45, 49-53, 55-58, 60, 66, 69, 70]
USA only	4	6.9% (4.9)	2,089	[21, 34, 41, 51]
MYH7-associated DCM
Global	21	3.2% (1.8-5.2%)	262 (105 - 487)	[22-27, 29, 31, 32, 34, 37, 38, 43-45, 52, 53, 57, 61, 63, 69]
USA only	3	4.0% (1.4)	1,057	[31, 34, 44]
Genetic DCM within the general population
Overall genetic DCM
UK only	2	0.029% [40]^c; 0.027% [39]^d	166,690 [40]^c; 18,665 [39]^d	[39, 40]
TTN-associated DCM
USA only	1	Geisinger: 0.04%; PMBB: 0.42%	Geisinger: 92,455; PMBB: 10,289	[41]
MYH7-associated DCM	-	-	-	-

Table 1. Prevalence of Genetic DCM Within the Adult or Mixed Populations (Adults and Children)

Group

Number of studies

Median prevalence (IQR)/weighted mean prevalence^a (SD)

Median N (IQR)/total N^b

References

^aPrevalence median and interquartile range were reported unless fewer than 10 studies were included in the calculation, in which case a weighted mean and weighted standard deviation were presented. ^bDCM median sample size and interquartile range were reported unless fewer than 10 studies were included in the calculation, in which case the total sample size or the individual studies’ DCM samples sizes were presented. ^cData from UK BioBank (general population n = 166,690, DCM n = 336, genetic DCM n = 48). ^dData from UK BioBank (general population n = 18,665, DCM n = not provided, genetic DCM n = 5). Data are stratified by region and the denominator of the calculation (genetic DCM within the DCM population or within the general population). DCM: dilated cardiomyopathy; IQR: interquartile range; PMBB: Penn Medicine BioBank cohort; USA: United States of America; SD: weighted standard deviation.

Genetic DCM within the DCM population

Overall genetic DCM

Global

20.2% (16.3-36.0%)

226 (112 - 525)

[22-26, 28-34, 36, 38, 40, 44, 45, 47, 50, 52-58, 60-70]

USA only

15.2% (2.5)

1,057

[31, 34, 44]

TTN-associated DCM

Global

11.4% (8.2-17.8%)

230 (133 - 492)

[12, 21-26, 28, 29, 32-36, 40, 41, 45, 49-53, 55-58, 60, 66, 69, 70]

USA only

6.9% (4.9)

2,089

[21, 34, 41, 51]

MYH7-associated DCM

Global

3.2% (1.8-5.2%)

262 (105 - 487)

[22-27, 29, 31, 32, 34, 37, 38, 43-45, 52, 53, 57, 61, 63, 69]

USA only

4.0% (1.4)

1,057

[31, 34, 44]

Genetic DCM within the general population

Overall genetic DCM

UK only

0.029% [40]^c; 0.027% [39]^d

166,690 [40]^c; 18,665 [39]^d

[39, 40]

TTN-associated DCM

USA only

Geisinger: 0.04%; PMBB: 0.42%

Geisinger: 92,455; PMBB: 10,289

[41]

MYH7-associated DCM

**Table 2.** Prevalence of Genetic DCM Within the Pediatric DCM Population by Region
Group	Number of studies	Weighted mean prevalence (SD)^a	Total N	References
^aWeighted mean prevalence and weighted standard deviation were reported unless fewer than three studies were included in the calculation, in which case individual study prevalence estimates were presented. DCM: dilated cardiomyopathy; USA: United States of America; SD: weighted standard deviation.
Overall genetic DCM
Global	9	21.3% (10.6)	695	[33, 34, 42, 54, 67, 71-74]
USA only	3	17.3% (4.9)	342	[34, 73, 74]
TTN-associated DCM
Global	4	4.4% (5.1)	450	[34, 42, 71, 75]
USA only	1	1.0%	286	[34]
MYH7-associated DCM
Global	5	5.7% (4.2)	453	[33, 34, 42, 72, 73]
USA only	2	4.5% [34]; 11.1% [73]	295	[34, 73]

Table 2. Prevalence of Genetic DCM Within the Pediatric DCM Population by Region

Group

Number of studies

Weighted mean prevalence (SD)^a

Total N

References

Overall genetic DCM

Global

21.3% (10.6)

695

[33, 34, 42, 54, 67, 71-74]

USA only

17.3% (4.9)

342

[34, 73, 74]

TTN-associated DCM

Global

4.4% (5.1)

450

[34, 42, 71, 75]

USA only

1.0%

286

[34]

MYH7-associated DCM

Global

5.7% (4.2)

453

[33, 34, 42, 72, 73]

USA only

4.5% [34]; 11.1% [73]

295

[34, 73]

**Table 3.** Prevalence of DCM-Associated Genetic Variants in Healthy Individuals by Region
Group	Number of studies	Weighted mean (SD)^a	Total N^b	References
^aWeighted mean prevalence and weighted standard deviation were reported unless fewer than three studies were included in the calculation, in which case individual study prevalence estimates were presented. ^bTotal sample size was presented unless fewer than three studies were included in the calculation, in which case the individual studies’ samples sizes were presented. DCM: dilated cardiomyopathy; USA: United States of America; SD: weighted standard deviation.
Overall genetic variants
Global	2	38.4% [60]; 2.7% [50]	503 [60]; 445 [50]	[50, 60]
USA only	-	-	-	-
TTN variants
Global	6	0.9% (0.2)	61,030	[12, 21, 24, 25, 50, 60]
USA only	1	Healthy individuals: 2.9%; Women’s Health Initiative: 0.7%	Healthy individuals: 308; Women’s Health Initiative: 667	[21]
MYH7 variants
Global	2	1.4% [25]; 1.4% [24]	912 [25]; 60,471 [24]	[24, 25]
USA only	-	-	-	-

Table 3. Prevalence of DCM-Associated Genetic Variants in Healthy Individuals by Region

Group

Number of studies

Weighted mean (SD)^a

Total N^b

References

^aWeighted mean prevalence and weighted standard deviation were reported unless fewer than three studies were included in the calculation, in which case individual study prevalence estimates were presented. ^bTotal sample size was presented unless fewer than three studies were included in the calculation, in which case the individual studies’ samples sizes were presented. DCM: dilated cardiomyopathy; USA: United States of America; SD: weighted standard deviation.

Overall genetic variants

Global

38.4% [60]; 2.7% [50]

503 [60]; 445 [50]

[50, 60]

USA only

TTN variants

Global

0.9% (0.2)

61,030

[12, 21, 24, 25, 50, 60]

USA only

Healthy individuals: 2.9%; Women’s Health Initiative: 0.7%

Healthy individuals: 308; Women’s Health Initiative: 667

[21]

MYH7 variants

Global

1.4% [25]; 1.4% [24]

912 [25]; 60,471 [24]

[24, 25]

USA only