{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:17:13Z","timestamp":1791249433232,"version":"4.1.0"},"reference-count":144,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation Research"],"published-print":{"date-parts":[[1998,9,21]]},"abstract":"<jats:p>\n                    <jats:italic>Abstract<\/jats:italic>\n                    \u2014Hypertrophic cardiomyopathy is characterized by left and\/or right ventricular hypertrophy, which is usually asymmetric and involves the interventricular septum. Typical morphological changes include myocyte hypertrophy and disarray surrounding the areas of increased loose connective tissue. Arrhythmias and premature sudden deaths are common. Hypertrophic cardiomyopathy is familial in the majority of cases and is transmitted as an autosomal-dominant trait. The results of molecular genetics studies have shown that familial hypertrophic cardiomyopathy is a disease of the sarcomere involving mutations in 7 different genes encoding proteins of the myofibrillar apparatus: \u03b2-myosin heavy chain, ventricular myosin essential light chain, ventricular myosin regulatory light chain, cardiac troponin T, cardiac troponin I, \u03b1-tropomyosin, and cardiac myosin binding protein C. In addition to this locus heterogeneity, there is a wide allelic heterogeneity, since numerous mutations have been found in all these genes. The recent development of animal models and of in vitro analyses have allowed a better understanding of the pathophysiological mechanisms associated with familial hypertrophic cardiomyopathy. One can thus tentatively draw the following cascade of events: The mutation leads to a poison polypeptide that would be incorporated into the sarcomere. This would alter the sarcomeric function that would result (1) in an altered cardiac function and then (2) in the alteration of the sarcomeric and myocyte structure. Some mutations induce functional impairment and support the pathogenesis hypothesis of a \u201chypocontractile\u201d state followed by compensatory hypertrophy. Other mutations induce cardiac hyperfunction and determine a \u201chypercontractile\u201d state that would directly induce cardiac hypertrophy. The development of other animal models and of other mechanistic studies linking the genetic mutation to functional defects are now key issues in understanding how alterations in the basic contractile unit of the cardiomyocyte alter the phenotype and the function of the heart.\n                  <\/jats:p>","DOI":"10.1161\/01.res.83.6.580","type":"journal-article","created":{"date-parts":[[2012,6,11]],"date-time":"2012-06-11T20:47:05Z","timestamp":1339447625000},"page":"580-593","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":262,"title":["Familial Hypertrophic Cardiomyopathy"],"prefix":"10.1161","volume":"83","author":[{"given":"Gise\u0300le","family":"Bonne","sequence":"first","affiliation":[{"name":"From the INSERM Unit 153 (G.B., L.C., K.S.), the Service de Biochimie B (P.R., B.H.), and the IFR de Physiologie et Ge\u0301ne\u0301tique Cardiovasculaire (G.B., L.C., P.R., B.H., K.S.), Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Carrier","sequence":"additional","affiliation":[{"name":"From the INSERM Unit 153 (G.B., L.C., K.S.), the Service de Biochimie B (P.R., B.H.), and the IFR de Physiologie et Ge\u0301ne\u0301tique Cardiovasculaire (G.B., L.C., P.R., B.H., K.S.), Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"From the INSERM Unit 153 (G.B., L.C., K.S.), the Service de Biochimie B (P.R., B.H.), and the IFR de Physiologie et Ge\u0301ne\u0301tique Cardiovasculaire (G.B., L.C., P.R., B.H., K.S.), Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Hainque","sequence":"additional","affiliation":[{"name":"From the INSERM Unit 153 (G.B., L.C., K.S.), the Service de Biochimie B (P.R., B.H.), and the IFR de Physiologie et Ge\u0301ne\u0301tique Cardiovasculaire (G.B., L.C., P.R., B.H., K.S.), Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketty","family":"Schwartz","sequence":"additional","affiliation":[{"name":"From the INSERM Unit 153 (G.B., L.C., K.S.), the Service de Biochimie B (P.R., B.H.), and the IFR de Physiologie et Ge\u0301ne\u0301tique Cardiovasculaire (G.B., L.C., P.R., B.H., K.S.), Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","first-page":"220","volume":"3","year":"1868","unstructured":"Vulpian A. 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