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Reproductive Genetic Options in HCM — EECC MCQ

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ModerateCardiomyopathyReproductive Genetic Options in HCMEECC

A 30-year-old man with HCM asks about genetic testing and its implications for family planning. What are the reproductive options for a couple where one partner carries a pathogenic sarcomeric mutation?

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Correct answer: B — Pre-implantation genetic testing (PGT-M) with IVF allows selection of embryos without the mutation; prenatal testing (CVS/amniocentesis) is also available — genetic counselling should be offered before pregnancy to discuss all options

For carriers of pathogenic sarcomeric mutations (autosomal dominant, 50% transmission risk per pregnancy), reproductive options include: (1) Natural conception with acceptance of 50% transmission risk and postnatal genetic testing/surveillance; (2) Pre-implantation genetic testing for monogenic disorders (PGT-M) combined with IVF — embryos are tested and only unaffected embryos are transferred (available through NHS genetics services for serious genetic conditions); (3) Prenatal testing (chorionic villus sampling at 11-14 weeks or amniocentesis at 15-18 weeks) — provides information for parental decision-making; (4) Gamete donation (using donor eggs/sperm without the mutation). The ESC 2023 Cardiomyopathy Guidelines recommend genetic counselling for all patients with inherited cardiomyopathies before pregnancy.

Reference: ESC (2023): Cardiomyopathies Guidelines