Test Detail

Feline hypertrophic cardiomyopathy HCM4

Cardíaco · Cat

Feline genetic test corresponding to the A74T variant of MYBPC3. Important: A74T is a polymorphism that has NOT been shown to be associated with the hypertrophic cardiomyopathy phenotype (Longeri et al. 2013), so it must not be interpreted as a cause of HCM nor used to rule it out. The best-characterized causal variants of feline HCM are MYBPC3 A31P (Maine coon), MYBPC3 R820W (Ragdoll) and ALMS1 p.(Gly3376Arg) (Sphynx).

Inheritance pattern	Limited data / not applicable for A74T (polymorphism without association with disease). For the known causal variants of feline HCM the observed pattern is autosomal dominant with incomplete, age-dependent penetrance.
Gene / Mutation	MYBPC3 c.220G>A p.(Ala74Thr) (A74T) — polymorphism, NOT associated with the HCM phenotype. Feline HCM is not termed 'HCM4'. Other variants: MYBPC3 p.Ala31Pro (Maine coon), MYBPC3 p.Arg820Trp (Ragdoll), ALMS1 p.(Gly3376Arg) (Sphynx).
Penetrance	Limited data. For A74T no association with HCM has been demonstrated (Longeri et al. 2013, PMID 23323744).
Code	lpzm
Turnaround time	7 days
Price	30,90 €

Incidence

Limited data. There are no carrier frequencies verified with a PMID for A74T or for ALMS1 outside the Sphynx; do not extrapolate figures by breed. Check with the laboratory which variant the test covers.

Breeder management

- Do not use the A74T test as a diagnostic test or to rule out HCM: the variant has not been associated with the disease (Longeri et al. 2013).\n- The diagnosis of HCM is clinical and echocardiographic; periodic echocardiographic screening remains the standard in predisposed breeds.\n- If ALMS1 is tested, interpret the result according to the laboratory's and breed guidance (association described in Sphynx), without removing animals on the basis of a single result.\n- Consult the ACMG classification of feline HCM variants (Boeykens et al. 2024) before breeding decisions.\n- Record results and echocardiographs in the pedigree.

Specialist notes

The diagnosis is suspected from a cardiac murmur or dyspnoea. The echocardiogram confirms myocardial thickening (>6 mm). The genetic test helps in screening but is not definitive (an N/N cat may develop HCM from other causes).\n\nThere is no cure. Management is supportive: furosemide for congestive heart failure, atenolol for arrhythmias, clopidogrel/ticlopidine for thromboembolism, and aspirin in some cases.\n\nThe prognosis is variable. Asymptomatic cats may live for years. Cats with advanced heart failure have a guarded prognosis.

References

1. Meurs KM et al. 2005, mutación de MYBPC3 en el Maine coon con HCM familiar (PMID 16236761)
2. Meurs KM et al. 2007, mutación de sustitución en MYBPC3 en Ragdoll con HCM (PMID 17521870)
3. Longeri M et al. 2013, variantes de MYBPC3 (A31P, A74T, R820W) y su asociación con HCM (PMID 23323744)
4. Meurs KM et al. 2021, mutación deletérea de ALMS1 en Sphynx con HCM (PMID 33639992)
5. Akiyama T et al. 2023, variantes ALMS1 y MYBPC3 en una cohorte felina con HCM (PMID 37071642)
6. Boeykens F et al. 2024, clasificación ACMG de variantes de HCM felina (PMID 38371598)

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