A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function. Less attention has been given to the phenotype of left ventricular hypertrophy with enhan...

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Vydáno v:Journal of the American Heart Association Ročník 11; číslo 24; s. e027363
Hlavní autoři: Singh, Gautam K., McClenaghan, Conor, Aggarwal, Manish, Gu, Hongjie, Remedi, Maria S., Grange, Dorothy K., Nichols, Colin G.
Médium: Journal Article
Jazyk:angličtina
Vydáno: England John Wiley and Sons Inc 20.12.2022
Wiley
Témata:
ABCC9
Adenosine Triphosphate
Adolescent
Adult
cardiomegaly
Cardiomegaly - genetics
Child
Child, Preschool
echocardiography
Female
heart failure
Heart Failure - complications
high‐output state
Humans
Hypertrichosis - genetics
Hypertrophy, Left Ventricular - complications
Hypertrophy, Left Ventricular - diagnostic imaging
Hypertrophy, Left Ventricular - genetics
KATP Channels
Male
Original Research
Osteochondrodysplasias - genetics
Phenotype
Vascular Resistance
Young Adult
heart failure
ABCC9
cardiomegaly
high‐output state
echocardiography
ISSN:2047-9980, 2047-9980
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Shrnutí:Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function. Less attention has been given to the phenotype of left ventricular hypertrophy with enhanced ventricular function and increased cardiac output, which is potentially associated with high-output heart failure. Lack of recognition may pose diagnostic ambiguity and management complexities. Methods and Results We sought to systematically characterize high-output cardiac hypertrophy in subjects with Cantu syndrome (CS), caused by gain-of-function variants in , which encodes cardiovascular K (ATP-sensitive potassium) channel subunits. We studied the cardiovascular phenotype longitudinally in 31 subjects with CS with confirmed variants (median [interquartile range] age 8 years [3-32 years], body mass index 19.9 [16.5-22.9], 16 male subjects). Subjects with CS presented with significant left ventricular hypertrophy (left ventricular mass index 86.7 [57.7-103.0] g/m in CS, n=30; 26.6 [24.1-32.8] g/m in controls, n=17; <0.0001) and low blood pressure (systolic 94.5 [90-103] mm Hg in CS, n=17; 109 [98-115] mm Hg in controls, n=17; =0.0301; diastolic 60 [56-66] mm Hg in CS, n=17; 69 [65-72] mm Hg in control, n=17; =0.0063). Most (21/31) subjects with CS exhibited eccentric hypertrophy with normal left ventricular wall thickness. Congestive heart failure symptoms were evident in 4 of the 5 subjects with CS aged >40 years on long-term follow-up. Conclusions The data define the natural history of high-output cardiac hypertrophy resulting from decreased systemic vascular resistance in subjects with CS, a defining population for long-term consequences of high-output hypertrophy caused by low systemic vascular resistance, and the potential for progression to high-output heart failure.
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For Sources of Funding and Disclosures, see page 11.
ISSN:2047-9980
2047-9980
DOI:10.1161/JAHA.122.027363