Hypertrophic Cardiomyopathy: A Species-Spanning Pathology
2021; Elsevier BV; Volume: 35; Issue: 9 Linguagem: Inglês
10.1053/j.jvca.2021.03.040
ISSN1532-8422
Autores Tópico(s)Cardiovascular Effects of Exercise
ResumoHYPERTROPHIC cardiomyopathy (HCM), a leading cause of sudden death among athletes and young adults is not uniquely human.1Sabater-Molina M. Genetics of hypertrophic cardiomyopathy: A review of current state.Clin Genet. 2017; 93: 3-14Crossref PubMed Scopus (77) Google Scholar The disorder has been diagnosed in a wide range of other mammalian species and is seen with some frequency in certain domestic animals (Fig 1).2Freeman LM Rush JE Stern JA et al.Feline hypertrophic cardiomyopathy: A spontaneous large animal model of human HCM.Cardiol Res. 2017; 8: 139-142Crossref PubMed Google Scholar, 3Plassais J Kim J Davis BW et al.Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nat Commun. 2019; 10: 1489Crossref PubMed Scopus (107) Google Scholar, 4Yang VK Rush JE Bhasin S et al.Plasma growth differentiation factors 8 and 11 levels in cats with congestive heart failure secondary to hypertrophic cardiomyopathy.J Vet Cardiol. 2019; 25: 41-51Crossref PubMed Scopus (2) Google Scholar, 5Schober KE Savino SI Yildiz V. Right ventricular involvement in feline hypertrophic cardiomyopathy.J Vet Cardiol. 2016; 18: 297-309Crossref PubMed Scopus (18) Google Scholar, 6Simpson S Rutland P Rutland CS. Genomic insights into cardiomyopathies: A comparative cross-species review.Vet Sci. 2017; 4PubMed Google Scholar, 7Chinedozi I Zarin J Quinn R et al.Two tales of cardiomyopathy: Underscore for one health initiative.J Cardiothorac Vasc Anesth. 2021; (20;S1053-0770(21)00175-0. Online ahead of print)https://doi.org/10.1053/j.jvca.2021.02.041Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar, 8Benato L Wack A Cerveny SNS et al.Survey of cardiac pathologies in captive striped skunks (Mephitis mephitis).J Zoo Wildlife Med. 2014; 45: 321-327Crossref PubMed Scopus (3) Google Scholar, 9Faye B Seboussi R. Selenium in camel—a review.Nutrients. 2009; 1: 30-49Crossref PubMed Scopus (20) Google Scholar, 10Makungu M du Plessis WM Barrows M et al.Radiographic thoracic anatomy of the red panda (Ailurus fulgens).J Zoo Wildlife Med. 2016; 47: 781-789Crossref PubMed Scopus (4) Google Scholar, 11O'Rourke MF Avolio AP Nichols WW. The kangaroo as a model for the study of hypertrophic cardiomyopathy in man.Cardiovasc Res. 1986; 20: 398-402Crossref PubMed Scopus (18) Google Scholar, 12Sugishita Y Iida K O'Rourke MF et al.Echocardiographic and electrocardiographic study of the normal kangaroo heart.Aust N Z J Med. 1990; 20: 160-165Crossref PubMed Scopus (9) Google Scholar, 13Stern AW Smith S Snider TA. Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus).J Vet Diagn Invest. 2009; 21: 889-892Crossref PubMed Scopus (4) Google Scholar, 14Fredholm DV Jones AE Hall NH et al.Successful management of hypertrophic cardiomyopathy in Matschie's tree kangaroo (Dendrolagus matschiei).J Zoo Wildlife Med. 2015; 46: 95-99Crossref PubMed Scopus (3) Google Scholar, 15Machida N Hirose M Nakamura T et al.Hypertrophic cardiomyopathy in a common wombat (Vombatus ursinus).J Comp Pathol. 1997; 117: 91-94Crossref PubMed Scopus (4) Google Scholar, 16Longeri M Ferrari P Knafelz P et al.Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.J Vet Intern Med. 2013; 27: 275-285Crossref PubMed Scopus (43) Google Scholar The clinical characteristics, natural history, and therapeutic interventions are similar across species. Comparative genomic analyses point to an overlapping genetic basis for the disorder in humans and other animals, in particular certain domestic cat breeds.2Freeman LM Rush JE Stern JA et al.Feline hypertrophic cardiomyopathy: A spontaneous large animal model of human HCM.Cardiol Res. 2017; 8: 139-142Crossref PubMed Google Scholar, 3Plassais J Kim J Davis BW et al.Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nat Commun. 2019; 10: 1489Crossref PubMed Scopus (107) Google Scholar, 4Yang VK Rush JE Bhasin S et al.Plasma growth differentiation factors 8 and 11 levels in cats with congestive heart failure secondary to hypertrophic cardiomyopathy.J Vet Cardiol. 2019; 25: 41-51Crossref PubMed Scopus (2) Google Scholar, 5Schober KE Savino SI Yildiz V. Right ventricular involvement in feline hypertrophic cardiomyopathy.J Vet Cardiol. 2016; 18: 297-309Crossref PubMed Scopus (18) Google Scholar, 6Simpson S Rutland P Rutland CS. Genomic insights into cardiomyopathies: A comparative cross-species review.Vet Sci. 2017; 4PubMed Google Scholar Increased knowledge exchange between the fields of human and veterinary cardiology can expand how HCM is understood, treated, and potentially prevented across the tree of life. The E-Challenge and discussion by Chinedozi et al. cast light on an emerging source of knowledge for human cardiovascular medicine—the shared vulnerability to cardiovascular pathologies across species and the insights gained through transdisciplinary collaboration and knowledge exchange.7Chinedozi I Zarin J Quinn R et al.Two tales of cardiomyopathy: Underscore for one health initiative.J Cardiothorac Vasc Anesth. 2021; (20;S1053-0770(21)00175-0. Online ahead of print)https://doi.org/10.1053/j.jvca.2021.02.041Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar HCM has been identified in a phylogenetically wide range of mammalian species including, but not limited to, skunks, camels, red pandas, rock kangaroo, red kangaroo, Bennett's wallaby, tree kangaroo, and the common wombat.8Benato L Wack A Cerveny SNS et al.Survey of cardiac pathologies in captive striped skunks (Mephitis mephitis).J Zoo Wildlife Med. 2014; 45: 321-327Crossref PubMed Scopus (3) Google Scholar, 9Faye B Seboussi R. Selenium in camel—a review.Nutrients. 2009; 1: 30-49Crossref PubMed Scopus (20) Google Scholar, 10Makungu M du Plessis WM Barrows M et al.Radiographic thoracic anatomy of the red panda (Ailurus fulgens).J Zoo Wildlife Med. 2016; 47: 781-789Crossref PubMed Scopus (4) Google Scholar, 11O'Rourke MF Avolio AP Nichols WW. The kangaroo as a model for the study of hypertrophic cardiomyopathy in man.Cardiovasc Res. 1986; 20: 398-402Crossref PubMed Scopus (18) Google Scholar, 12Sugishita Y Iida K O'Rourke MF et al.Echocardiographic and electrocardiographic study of the normal kangaroo heart.Aust N Z J Med. 1990; 20: 160-165Crossref PubMed Scopus (9) Google Scholar, 13Stern AW Smith S Snider TA. Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus).J Vet Diagn Invest. 2009; 21: 889-892Crossref PubMed Scopus (4) Google Scholar, 14Fredholm DV Jones AE Hall NH et al.Successful management of hypertrophic cardiomyopathy in Matschie's tree kangaroo (Dendrolagus matschiei).J Zoo Wildlife Med. 2015; 46: 95-99Crossref PubMed Scopus (3) Google Scholar, 15Machida N Hirose M Nakamura T et al.Hypertrophic cardiomyopathy in a common wombat (Vombatus ursinus).J Comp Pathol. 1997; 117: 91-94Crossref PubMed Scopus (4) Google Scholar The wide range of species in which the spontaneous occurrence of HCM has been reported in the peer-reviewed literature points to a shared ancestral legacy of vulnerability to the pathology. Most cases are found in species that are under human custodianship in zoologic institutions, agricultural environments, or domestic settings.2Freeman LM Rush JE Stern JA et al.Feline hypertrophic cardiomyopathy: A spontaneous large animal model of human HCM.Cardiol Res. 2017; 8: 139-142Crossref PubMed Google Scholar, 3Plassais J Kim J Davis BW et al.Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nat Commun. 2019; 10: 1489Crossref PubMed Scopus (107) Google Scholar, 4Yang VK Rush JE Bhasin S et al.Plasma growth differentiation factors 8 and 11 levels in cats with congestive heart failure secondary to hypertrophic cardiomyopathy.J Vet Cardiol. 2019; 25: 41-51Crossref PubMed Scopus (2) Google Scholar, 5Schober KE Savino SI Yildiz V. Right ventricular involvement in feline hypertrophic cardiomyopathy.J Vet Cardiol. 2016; 18: 297-309Crossref PubMed Scopus (18) Google Scholar, 6Simpson S Rutland P Rutland CS. Genomic insights into cardiomyopathies: A comparative cross-species review.Vet Sci. 2017; 4PubMed Google Scholar, 7Chinedozi I Zarin J Quinn R et al.Two tales of cardiomyopathy: Underscore for one health initiative.J Cardiothorac Vasc Anesth. 2021; (20;S1053-0770(21)00175-0. Online ahead of print)https://doi.org/10.1053/j.jvca.2021.02.041Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar, 8Benato L Wack A Cerveny SNS et al.Survey of cardiac pathologies in captive striped skunks (Mephitis mephitis).J Zoo Wildlife Med. 2014; 45: 321-327Crossref PubMed Scopus (3) Google Scholar, 9Faye B Seboussi R. Selenium in camel—a review.Nutrients. 2009; 1: 30-49Crossref PubMed Scopus (20) Google Scholar, 10Makungu M du Plessis WM Barrows M et al.Radiographic thoracic anatomy of the red panda (Ailurus fulgens).J Zoo Wildlife Med. 2016; 47: 781-789Crossref PubMed Scopus (4) Google Scholar, 11O'Rourke MF Avolio AP Nichols WW. The kangaroo as a model for the study of hypertrophic cardiomyopathy in man.Cardiovasc Res. 1986; 20: 398-402Crossref PubMed Scopus (18) Google Scholar, 12Sugishita Y Iida K O'Rourke MF et al.Echocardiographic and electrocardiographic study of the normal kangaroo heart.Aust N Z J Med. 1990; 20: 160-165Crossref PubMed Scopus (9) Google Scholar, 13Stern AW Smith S Snider TA. Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus).J Vet Diagn Invest. 2009; 21: 889-892Crossref PubMed Scopus (4) Google Scholar, 14Fredholm DV Jones AE Hall NH et al.Successful management of hypertrophic cardiomyopathy in Matschie's tree kangaroo (Dendrolagus matschiei).J Zoo Wildlife Med. 2015; 46: 95-99Crossref PubMed Scopus (3) Google Scholar, 15Machida N Hirose M Nakamura T et al.Hypertrophic cardiomyopathy in a common wombat (Vombatus ursinus).J Comp Pathol. 1997; 117: 91-94Crossref PubMed Scopus (4) Google Scholar, 16Longeri M Ferrari P Knafelz P et al.Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.J Vet Intern Med. 2013; 27: 275-285Crossref PubMed Scopus (43) Google Scholar Because the human encounters necessary to identify the disorder in wild settings are inconsistent, the incidence and prevalence of HCM among wild species currently are unknown. In zoologic institutions, HCM may present clinically, as was the case in a series of Australian rock kangaroo in which HCM was identified after the onset of ventricular fibrillation with anesthetic induction.11O'Rourke MF Avolio AP Nichols WW. The kangaroo as a model for the study of hypertrophic cardiomyopathy in man.Cardiovasc Res. 1986; 20: 398-402Crossref PubMed Scopus (18) Google Scholar In other cases, the diagnosis was made at necropsy.13Stern AW Smith S Snider TA. Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus).J Vet Diagn Invest. 2009; 21: 889-892Crossref PubMed Scopus (4) Google Scholar Whether in these cases the HCM diagnosis was linked to a species-specific vulnerability; genetic bottleneck; or environmental, toxic, or nutritional factors often has remained unanswered.13Stern AW Smith S Snider TA. Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus).J Vet Diagn Invest. 2009; 21: 889-892Crossref PubMed Scopus (4) Google Scholar Much more is known about the risk of HCM in domestic species. HCM is the most common cardiovascular syndrome in domestic cats. Some studies suggest that 10%-to-15% of cats are affected.2Freeman LM Rush JE Stern JA et al.Feline hypertrophic cardiomyopathy: A spontaneous large animal model of human HCM.Cardiol Res. 2017; 8: 139-142Crossref PubMed Google Scholar, 3Plassais J Kim J Davis BW et al.Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nat Commun. 2019; 10: 1489Crossref PubMed Scopus (107) Google Scholar, 4Yang VK Rush JE Bhasin S et al.Plasma growth differentiation factors 8 and 11 levels in cats with congestive heart failure secondary to hypertrophic cardiomyopathy.J Vet Cardiol. 2019; 25: 41-51Crossref PubMed Scopus (2) Google Scholar, 5Schober KE Savino SI Yildiz V. Right ventricular involvement in feline hypertrophic cardiomyopathy.J Vet Cardiol. 2016; 18: 297-309Crossref PubMed Scopus (18) Google Scholar, 6Simpson S Rutland P Rutland CS. Genomic insights into cardiomyopathies: A comparative cross-species review.Vet Sci. 2017; 4PubMed Google Scholar The diagnosis, treatment, prognosis, and natural history of disease are similar in humans and cats. Certain cat breeds—Maine coon, ragdoll, American shorthair, British shorthair, Persian, and domestic shorthair—appear to be at higher risk than others.3Plassais J Kim J Davis BW et al.Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nat Commun. 2019; 10: 1489Crossref PubMed Scopus (107) Google Scholar, 4Yang VK Rush JE Bhasin S et al.Plasma growth differentiation factors 8 and 11 levels in cats with congestive heart failure secondary to hypertrophic cardiomyopathy.J Vet Cardiol. 2019; 25: 41-51Crossref PubMed Scopus (2) Google Scholar, 5Schober KE Savino SI Yildiz V. Right ventricular involvement in feline hypertrophic cardiomyopathy.J Vet Cardiol. 2016; 18: 297-309Crossref PubMed Scopus (18) Google Scholar, 6Simpson S Rutland P Rutland CS. Genomic insights into cardiomyopathies: A comparative cross-species review.Vet Sci. 2017; 4PubMed Google Scholar Mutations relevant to human HCM in genes, including MYBPC, also are implicated in the disorder in some felines.16Longeri M Ferrari P Knafelz P et al.Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.J Vet Intern Med. 2013; 27: 275-285Crossref PubMed Scopus (43) Google Scholar Increased vulnerability to cardiovascular pathologies other than HCM commonly are seen in breeds of other domestic animals. For example, centuries of human selection for certain physical and behavioral phenotypes in domestic dogs has led to canine genomes in some breeds that are highly associated with specific cardiovascular disorders. Doberman pinschers have an increased vulnerability to dilated cardiomyopathy,17Elliott P. Diagnosis and management of dilated cardiomyopathy.Heart. 2000; 84: 106-112Crossref PubMed Google Scholar, 18Schultheiss HP Fairweather D Caforio ALP et al.Dilated cardiomyopathy.Nat Rev Dis Primers. 2019; 5: 32Crossref PubMed Scopus (83) Google Scholar, 19Dellefave L McNally EM. The genetics of dilated cardiomyopathy.Curr Opin Cardiol. 2010; 25: 198-204Crossref PubMed Scopus (112) Google Scholar, 20Herman DS Lam L Taylor MRG et al.Truncations of titin causing dilated cardiomyopathy.N Engl J Med. 2012; 366: 619-628Crossref PubMed Scopus (846) Google Scholar, 21Meurs KM Friedenberg SG Kolb J et al.A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.Hum Genet. 2019; 138: 515-524Crossref PubMed Scopus (26) Google Scholar boxers to arrhythmogenic right ventricular cardiomyopathy,22Meurs KM Stern JA Reina-Doreste Y et al.Natural history of arrhythmogenic right ventricular cardiomyopathy in the boxer dog: A prospective study.J Vet Intern Med. 2014; 28: 1214-1220Crossref PubMed Scopus (33) Google Scholar,23Meurs KM Stern JA Sisson DD et al.Association of dilated cardiomyopathy with the Striatin mutation genotype in boxer dogs.J Vet Intern Med. 2013; 27: 1437-1440Crossref PubMed Scopus (49) Google Scholar and Cavalier King Charles spaniels to myxomatous mitral valve disease and valvular cardiomyopathy.24Madsen MB Olsen LH Häggström J et al.Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles spaniels.J Heredity. 2011; 102: S62-S67Crossref PubMed Scopus (50) Google Scholar,25Oyama MA Elliott C Loughran KA et al.Comparative pathology of human and canine myxomatous mitral valve degeneration: 5HT and TGF-β mechanisms.Cardiovasc Pathol. 2020; 46107196Crossref PubMed Scopus (16) Google Scholar Centuries of anthropocentrism in human medicine has limited knowledge exchange with veterinary clinicians and scientists. Moving toward a species-spanning perspective exposes connections and potential scientific insights that a single-species view cannot. Recently, evidence of increasing collaboration across the fields is emerging. Zoobiquity conferences are bringing schools of human and veterinary medicine together to spark clinical, educational, and investigational collaborations in cardiovascular, cancer, and biobehavioral medicine.26Zoobiquity. Zoobiquity conferences. Available at: https://www.zoobiquity.com/conference. Accessed March 17, 2021.Google Scholar The National Cancer Institute's Comparative Oncology Program sponsors clinical trials for dogs and cats with a range of cancer syndromes, and accelerated advances in comparative genomics are unlocking the genetic basis for shared vulnerability to disease across the tree of life.27National Cancer Institute: Center for Cancer Research. Comparative oncology program. Available at: https://ccr.cancer.gov/comparative-oncology-program. Accessed March 17, 2021.Google Scholar We humans may have named ourselves the “wise apes” (Homo sapiens). Whether we have the wisdom to recognize the clinical and biomedical insights that exist beyond the boundaries of our own species remains to be seen. None. Two Tales of Cardiomyopathy: Underscore for One Health InitiativeJournal of Cardiothoracic and Vascular AnesthesiaVol. 35Issue 9PreviewHypertrophic cardiomyopathy, a common cause of sudden cardiac death, results from mutations in the cardiac sarcomere. Although there has been much scientific exploration regarding this disease, there is still much to be elucidated. This E-challenge highlights two cases of cardiomyopathy and underscores the need for future multidisciplinary collaboration as outlined by the One Health Initiative. Full-Text PDF
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