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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Abstract 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.
AbstractList 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 ABCC9, which encodes cardiovascular KATP (ATP-sensitive potassium) channel subunits. We studied the cardiovascular phenotype longitudinally in 31 subjects with CS with confirmed ABCC9 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/m2 in CS, n=30; 26.6 [24.1-32.8] g/m2 in controls, n=17; P<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; P=0.0301; diastolic 60 [56-66] mm Hg in CS, n=17; 69 [65-72] mm Hg in control, n=17; P=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.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 ABCC9, which encodes cardiovascular KATP (ATP-sensitive potassium) channel subunits. We studied the cardiovascular phenotype longitudinally in 31 subjects with CS with confirmed ABCC9 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/m2 in CS, n=30; 26.6 [24.1-32.8] g/m2 in controls, n=17; P<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; P=0.0301; diastolic 60 [56-66] mm Hg in CS, n=17; 69 [65-72] mm Hg in control, n=17; P=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.
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 ABCC9, which encodes cardiovascular KATP (ATP‐sensitive potassium) channel subunits. We studied the cardiovascular phenotype longitudinally in 31 subjects with CS with confirmed ABCC9 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/m2 in CS, n=30; 26.6 [24.1–32.8] g/m2 in controls, n=17; P<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; P=0.0301; diastolic 60 [56–66] mm Hg in CS, n=17; 69 [65–72] mm Hg in control, n=17; P=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.
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.
Author Nichols, Colin G.
Aggarwal, Manish
Gu, Hongjie
Remedi, Maria S.
Singh, Gautam K.
McClenaghan, Conor
Grange, Dorothy K.
AuthorAffiliation 2 Center for the Investigation of Membrane Excitability Diseases (CIMED) Washington University School of Medicine St. Louis MO
4 Division of Statistics Washington University School of Medicine St. Louis MO
1 Division of Cardiology, Department of Pediatrics Washington University School of Medicine St. Louis MO
3 Department of Cell Biology and Physiology Washington University School of Medicine St. Louis MO
5 Department of Medicine, Division of Endocrinology Washington University School of Medicine St. Louis MO
6 Department of Pediatrics, Division of Genetics Washington University School of Medicine St. Louis MO
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Issue 24
Keywords heart failure
ABCC9
cardiomegaly
high‐output state
echocardiography
Language English
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For Sources of Funding and Disclosures, see page 11.
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Snippet Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with...
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SubjectTerms 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
Title A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome
URI https://www.ncbi.nlm.nih.gov/pubmed/36515236
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https://pubmed.ncbi.nlm.nih.gov/PMC9798820
https://doaj.org/article/f9efc30b206147a6b06d6e40ddaa49da
Volume 11
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