Recently, a study published in JACC found 20 pathogenic gene variants in 91 cases of sudden cardiac death (mean age 25 years old) whose autopsy did not have a clear cause of death, of which 14 (15%) were found to have hereditary cardiomyopathy. The 91 sudden death patients in thi

Recently, a study published in JACC found 20 pathogenic gene variants in 91 cases of sudden cardiac death (average age 25 years old) whose autopsy did not have a clear cause of death, of which 14 (15%) were found to have hereditary cardiomyopathy.

The heart structure of 91 patients with sudden death in this group was normal or had only minor changes, which was not enough to diagnose structural heart disease.

Researchers conducted gene test for these patients. is not limited to traditional genes related to arrhythmia syndrome, but also contains 183 known genes related to cardiovascular disease (including cardiomyopathy-related genes).

results showed that 20 patients found abnormalities in genes that caused death, of which 14 were abnormal genes of cardiomyopathy, that is, 14 cases of hereditary cardiomyopathy.

Researchers believe that for cases of sudden death that cannot be identified in the cause of death during the autopsy, in addition to primary arrhythmia, the possibility of hereditary cardiomyopathy should be considered. Relatives of those carrying genes should undergo cardiomyopathy-related genetic testing to identify high-risk people with sudden death.

Subsequently, the researchers conducted genetic testing on the first-degree relatives of 47 sudden deaths and found that 43% of these relatives carried genetic variants, of which 65% had a significant phenotype, and identified 27 first-degree relatives with negative genotypes.

Recently, China's experts' consensus on sudden cardiac autopsy and molecular diagnosis also pointed out that for patients with sudden cardiac death who did not find abnormal cardiac structure in autopsy, it is recommended to evaluate pathogenic genes that are clearly related to the disease.

Source: [1]Isbister JC, Nowak N, Yeates L, et al. Concealed Cardiomypathy in Autopsy-Inconclusive Cases of SuddenCardiac Death and Implications for Families. J Am Coll Cardiol. 2022 Nov 29;80(22):2057-2068.

[2]Cardiovascular Diseases Group, Pathology Branch of the Chinese Medical Association. Chinese Expert Consensus on Sudden Cardiac Death and Molecular Diagnosis. 2022, 37: 865-875. DOI:10.3969/j.issn.1000-3614.2022.09.001. [Click on the QR code to view the original text]

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