Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Subaortic stenosis (SAS) is a cardiac disorder with a narrowing of the descending aorta below the left ventricular outflow tract of the heart. It occurs in several species and breeds. The Newfoundland is one of the dog breeds where it is more common and usually leads to death at early adulthood. It is still discussed to which extent SAS has a genetic background and what its mode of inheritance could be. Extensive pedigree data comprising more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis were analysed for genetic factors influencing SAS affection. The incidence and prevalence of SAS in the analysed Newfoundland population sample were much higher than those reported in previous studies on smaller population samples. Assuming that some SAS-affected dogs remained undiscovered or were not reported, these figures may even be underestimated. SAS-affected Newfoundland dogs were more often inbred and closer related to each other than unaffected dogs, which is an indicator for a genetic background of SAS. The sex had no significant impact on SAS affectedness, pointing at an autosomal inheritance. The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes.
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PMID:Genetic evidence of subaortic stenosis in the Newfoundland dog. 2264 60

Subaortic stenosis (SAS) is a congenital heart disease, and its association with hypertrophic cardiomyopathy is very rare and clinically underappreciated. We report here a case of a 45-year-old female who was admitted to our hospital with chest tightness and shortness of breath. Both transthoracic and transesophageal echocardiography revealed asymmetric left ventricular hypertrophy and a membrane-like echo below the level of the aortic valve. This patient was diagnosed with membranous SAS with hypertrophic cardiomyopathy. Screening of her immediate family members revealed that her son also had hypertrophic cardiomyopathy. The patient chose conservative treatments and has been closely followed-up after discharge.
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PMID:Membranous subaortic stenosis coexisting with hypertrophic cardiomyopathy: A case report. 3022 19