What type of genetic disorder is Hypertrophic Cardiomyopathy?

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Hypertrophic Cardiomyopathy (HCM) is primarily an autosomal dominant genetic disorder. This means that the condition can be inherited if one copy of the mutated gene is passed down from an affected parent to their offspring. The genetic mutations responsible for HCM typically affect genes that encode proteins in the cardiac sarcomere, leading to the characteristic thickening of the heart muscle.

In an autosomal dominant disorder, an individual only needs one copy of the mutated gene to express the trait or condition, which means that the inheritance pattern can be seen in successive generations within families. In contrast, autosomal recessive disorders require both copies of the gene to be mutated for the disease to manifest, while X-linked recessive disorders predominantly affect males and can often be carried by females without expressing symptoms. Mitochondrial disorders are inherited maternally and are associated with mutations in mitochondrial DNA, leading to energy production issues rather than structural abnormalities of the heart.

Understanding the inheritance pattern of HCM is crucial for genetic counseling and assessing the risk of transmission to offspring, making the identification of this condition as autosomal dominant significant in clinical practice.

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