Hypertrophic Cardiomyopathy is primarily inherited in what manner?

Study for the Maternal-Fetal Medicine (MFM) Qualifying Exam. Explore comprehensive flashcards and detailed multiple-choice questions, each with hints and explanations to prepare effectively. Achieve success with confidence!

Hypertrophic Cardiomyopathy (HCM) is primarily inherited in an autosomal dominant manner. This means that a mutation in just one copy of the gene associated with HCM is sufficient to cause the disorder. This inheritance pattern leads to a significant impact on the heart's structure and function, as the abnormal gene product can alter cardiac muscle development, promoting symptoms such as thickened heart muscle, which may lead to obstruction of blood flow and increased risk of arrhythmias.

In the case of HCM, numerous genes can be involved, including those that encode proteins of the cardiac sarcomere. The manifestation of the disease can vary widely even among individuals who inherit the same genetic mutation, highlighting the complexities of gene expression and environmental interactions in this condition. Additionally, since it is autosomal dominant, there is a 50% chance of passing the condition to offspring if one parent carries the mutation.

Understanding the inheritance pattern is crucial for genetic counseling, family planning, and initiation of screening programs for family members potentially affected by HCM.

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