Kardiomiopatia przerostowa
Epidemiologia

Kardiomiopatia przerostowa (HCM) jest jedną z najczęstszych dziedzicznych chorób serca, z globalną częstością występowania około 0,2% (1 na 500 dorosłych), choć dane wskazują na możliwy wzrost do 1:200. Postać zastawkowa (obstrukcyjna, oHCM) stanowi około 70% przypadków, z częstością występowania w USA wynoszącą 1,65 na 10 000 osób, wyższą u mężczyzn (2,07/10 000) niż u kobiet (1,26/10 000), a szczyt zachorowań przypada na wiek 55-64 lata (4,82/10 000). Choroba wykazuje dwumodalny rozkład wieku zachorowań, z dominacją w trzeciej dekadzie życia u dorosłych oraz w drugiej dekadzie u dzieci. Istotnym problemem jest znaczna luka diagnostyczna – w USA tylko około 10% przypadków jest klinicznie rozpoznawanych, a jedynie 6% z nich manifestuje objawy. Epidemiologia HCM różni się geograficznie, z wyższą częstością w populacjach azjatyckich, gdzie przerost koniuszkowy stanowi do 40% przypadków, oraz niższą u Afroamerykanów, u których obserwuje się jednak cięższy przebieg choroby i wyższe ryzyko nagłej śmierci sercowej. Wzorzec dziedziczenia jest autosomalny dominujący, a około 60% przypadków ma charakter rodzinny, z niepełną penetracją i zmienną ekspresywnością.

  1. Epidemiologia kardiomiopatii przerostowej
    1. Rozpowszechnienie kardiomiopatii przerostowej w różnych krajach
    2. Epidemiologia zastawkowej kardiomiopatii przerostowej
    3. Zróżnicowanie ze względu na płeć i wiek
    4. Trendy i prognozy epidemiologiczne
    5. Obciążenie zdrowotne i śmiertelność
    6. Różnice etniczne i geograficzne
    7. Rodzinne vs. sporadyczne przypadki HCM
    8. Diagnostyka i nadzór epidemiologiczny
  2. Podsumowanie epidemiologii kardiomiopatii przerostowej
    1. Kolejne rozdziały

Epidemiologia kardiomiopatii przerostowej

Kardiomiopatia przerostowa (HCM, ang. Hypertrophic Cardiomyopathy) jest jedną z najczęstszych dziedzicznych chorób serca. Badania echokardiograficzne wskazują, że częstość występowania HCM w populacji ogólnej na świecie wynosi około 0,2% (1 na 500 osób dorosłych). 123 Niektóre źródła podają jednak różny zakres częstości występowania – od 1:200 do 1:500, co wynika z różnic w metodyce badań oraz charakterystyce analizowanych kohort, w tym różnych grup wiekowych i pochodzenia etnicznego. 45 W ostatnich latach pojawiły się dane sugerujące, że rzeczywista częstość występowania HCM może być nawet wyższa i wynosić 1:200. 6

Niepokojący jest fakt, że tylko niewielka część pacjentów z HCM jest prawidłowo diagnozowana. Szacuje się, że w Stanach Zjednoczonych na 750 000 osób z HCM, jedynie około 100 000 zostało zdiagnozowanych, co wskazuje na znaczącą lukę w rozpoznawaniu i zrozumieniu tej choroby. 7 Podobnie, dane sugerują, że tylko około 10% przypadków HCM jest klinicznie identyfikowanych, a tylko 6% zidentyfikowanych przypadków wykazuje objawy. 8

Rozpowszechnienie kardiomiopatii przerostowej w różnych krajach

Dane dotyczące rozpowszechnienia HCM różnią się w zależności od kraju:

  • W Stanach Zjednoczonych częstość występowania HCM szacuje się na 1 na 500 osób. 9
  • W Niemczech odnotowano niższą częstość – około 0,07%. 10
  • W Wielkiej Brytanii szacuje się, że HCM dotyka około 1 na 500 mieszkańców. 11
  • W Japonii, według badania z 2021 roku, standaryzowana częstość występowania HCM wzrosła z 9,3 na 10 000 osób w 2017 roku do 11,1 na 10 000 osób w 2021 roku, co przekłada się na około 142 115 pacjentów z HCM w 2021 roku. 1213
  • W Chinach, badanie na kohorcie 21,9 miliona osób wykazało, że częstość występowania HCM wynosiła 0,0069% w 2010 roku, rosnąc do 0,076% w 2019 roku. 14

Warto podkreślić, że brakuje danych epidemiologicznych dla wielu krajów, w tym Francji, Włoch, Hiszpanii i Kanady. 1516

Epidemiologia zastawkowej kardiomiopatii przerostowej

Zastawkowa (obstrukcyjna) kardiomiopatia przerostowa (oHCM) stanowi około 70% przypadków HCM, podczas gdy postać niezastawkowa (nieobstrukcyjna) obejmuje około 30% przypadków. 1718 Badanie przeprowadzone w Stanach Zjednoczonych wykazało, że w 2016 roku 4 612 pacjentów miało kliniczną diagnozę oHCM, co przekłada się na szacowaną częstość występowania oHCM wynoszącą 1,65 na 10 000 osób. 19

Rozpowszechnienie oHCM było wyższe u mężczyzn (2,07 na 10 000) niż u kobiet (1,26 na 10 000). Najwyższą częstość występowania oHCM odnotowano u pacjentów w wieku 55-64 lat (4,82 na 10 000). Generalnie, częstość występowania oHCM zwiększała się wraz z wiekiem, od 0,36 na 10 000 u osób poniżej 18 roku życia do 4,82 na 10 000 u osób w wieku 55-65 lat. Tendencje w częstości występowania oHCM w czasie, w tym według płci i grupy wiekowej, pozostały podobne i spójne w latach 2017 i 2018. 20

Zróżnicowanie ze względu na płeć i wiek

HCM występuje nieco częściej u mężczyzn niż u kobiet, mimo że wzorzec dziedziczenia jest autosomalny dominujący, bez predylekcji płciowej. 2122 Stosunek mężczyzn do kobiet różni się w zależności od badania i populacji:

  • Badania indyjskie wykazały przewagę HCM u mężczyzn (83,7%) ze stosunkiem płci 5,5:1 w porównaniu do innych badań indyjskich (3,7:1), zachodnich (2,9:1) i japońskich (2,3:1). 23
  • Inne badania wskazują na stosunek mężczyzn do kobiet wynoszący od 1,6 do 2,8:1. 24

Wytłumaczeniem tego zjawiska mogą być strategie badań przesiewowych, genetyka lub regulacja hormonalna. Istnieją jednak dowody na to, że kobiety są diagnozowane w starszym wieku i mają gorsze rokowanie, co sugeruje, że strategie diagnostyczne powinny zostać zrewidowane. 25 Jest to szczególnie ważne, ponieważ kobiety z HCM są niedostatecznie rozpoznawane i kierowane do ośrodków później niż mężczyźni, często z bardziej zaawansowaną niewydolnością serca, pomimo częstszej obecności zwężenia drogi odpływu. 26

Kardiomiopatia przerostowa wykazuje dwumodalny szczyt występowania:

  • Najczęstsza prezentacja przypada na trzecią dekadę życia, ale HCM może wystąpić w każdym wieku, od noworodków do osób starszych. 2728
  • U dzieci przypadki dziedziczne występują w przedziale wiekowym od noworodka do dorosłości, z największą częstością w drugiej dekadzie życia. 29
  • U dorosłych największa częstość występuje w trzeciej dekadzie życia, przy czym zdecydowana większość przypadków występuje w przedziale wiekowym między trzecią a szóstą dekadą życia. 30

Badania wśród dzieci sugerują niższą zachorowalność dla ekspresji choroby rozpoczynającej się w dzieciństwie, z częstością 3-5 przypadków na 1 milion dzieci. 31 Wśród dzieci poniżej 18 roku życia z rozpoznaniem HCM, mediana wieku w momencie diagnozy wynosi 7 lat; jedna trzecia jest diagnozowana przed ukończeniem 1 roku życia. 32

Grupa wiekowa Częstość występowania oHCM (na 10 000) Charakterystyka
Poniżej 18 lat 0,36 Możliwa manifestacja objawów u dzieci i młodzieży
18-54 lat Wzrost z wiekiem Najczęstsza prezentacja w trzeciej dekadzie życia
55-64 lat 4,82 Najwyższa częstość występowania
Powyżej 65 lat Spadek Zmniejszona częstość występowania w porównaniu do grupy 55-64 lat

Trendy i prognozy epidemiologiczne

Obserwuje się tendencję wzrostową w częstości występowania HCM:

  • W Stanach Zjednoczonych badanie kliniki Mayo wykazało, że częstość występowania HCM wzrosła w ciągu ostatnich kilku dekad, z punktową częstością występowania wynoszącą 89 na 100 000 populacji na początku 2016 roku. 33
  • W Chinach roczny procentowy wzrost częstości występowania HCM wyniósł 5,8%, a przewiduje się, że liczba przypadków podwoi się do 2029 roku, zakładając taki sam trend wzrostowy jak w ostatnich dekadach. 3435
  • W Japonii standaryzowana częstość występowania HCM wzrosła z 9,3 na 10 000 osób w 2017 roku do 11,1 na 10 000 osób w 2021 roku. 36

Wzrost częstości występowania HCM może wynikać z kombinacji większej świadomości, lepszych metod diagnostycznych oraz zmian w kryteriach diagnostycznych w czasie. 37 Przykładowo, niewielki wzrost częstości występowania HCM w Japonii między 2018 a 2019 rokiem odpowiada wydaniu japońskich wytycznych dotyczących diagnozy i leczenia HCM. 38

Obciążenie zdrowotne i śmiertelność

HCM jest główną przyczyną nagłej śmierci sercowej u młodych sportowców w Stanach Zjednoczonych i najczęstszym genetycznym zaburzeniem sercowo-naczyniowym. 39 Jedno badanie wykazało, że częstość nagłej śmierci sercowej u młodych sportowców wyczynowych zmniejszyła się w regionie Wenecji we Włoszech o 89% od wprowadzenia w 1982 roku rutynowych badań przesiewowych serca dla sportowców. 40

Naturalny przebieg HCM jest zróżnicowany i nieprzewidywalny. Wczesne badania z ośrodków opieki trzeciego stopnia podawały śmiertelność dorosłych z HCM na poziomie nawet 6% rocznie. Jednak nowsze badania populacji z HCM ze społeczności wykazały znacznie korzystniejsze wyniki, ze śmiertelnością poniżej 1% rocznie. 41

Współczynnik śmiertelności wynosi 6 na 10 000 rocznie u młodych osób bez objawów kardiomiopatii przerostowej, ale u pacjentów z objawami współczynnik śmiertelności wynosi 420 i 110 zgonów na 10 000 rocznie odpowiednio w ośrodkach trzeciego stopnia referencyjnego i klinikach szpitali ogólnych. 42

Różnice etniczne i geograficzne

Częstość występowania HCM jest uważana za podobną na całym świecie, jednak pewne warianty, takie jak przerost koniuszkowy, mogą być bardziej dominujące wśród Azjatów. 43 Dane wskazują, że przerostowa kardiomiopatia koniuszkowa (ApHCM) ma różną częstość występowania w kohortach pacjentów z HCM:

  • Jest stosunkowo rzadsza (8%) w Europie i Ameryce Północnej, gdzie większość pacjentów (84%) to osoby rasy białej. 44
  • Występuje częściej w populacjach azjatyckich, gdzie stanowi do 40% pacjentów z HCM (21% w Chinach, 30% w Japonii i 38% w Korei). 45

HCM występuje rzadziej u Afroamerykanów, ale są oni bardziej podatni na wczesną prezentację, rozwój niewydolności serca, a nagła śmierć jest bardziej powszechna z powodu mniejszej świadomości i badań przesiewowych w tej populacji. 46

Rodzinne vs. sporadyczne przypadki HCM

HCM jest klasyfikowana w zależności od obecności dodatniego wywiadu rodzinnego lub dodatniego testu genetycznego na:

  • Rodzinną HCM (60% przypadków) – większość przypadków rodzinnych dziedziczy się w sposób autosomalny dominujący z niepełną penetracją, zmienną ekspresywnością i heterogennością. 47
  • Nie-rodzinną HCM (40% przypadków). 48

Badania morfologiczne wykazują obecność choroby u około 25% krewnych pierwszego stopnia pacjentów z HCM, co jest zgodne ze zmienną ekspresywnością. 495051

Badania indyjskie pokazały, że rodzinna HCM stanowiła 18% (n=9) wszystkich rodzin z HCM (n=50), podczas gdy przypadki sporadyczne były stosunkowo liczne. 52 Przypadki rodzinne wykazywały wcześniejszy początek choroby i gorsze rokowanie w porównaniu do przypadków sporadycznych. 53

Diagnostyka i nadzór epidemiologiczny

Diagnostyka HCM opiera się przede wszystkim na badaniach obrazowych:

  • Rozpoznanie kliniczne u dorosłych pacjentów zwykle jest ustalane za pomocą dowolnej techniki obrazowania serca, która pokazuje grubość ściany końcoworozkurczowej wynoszącą ≥15 mm w dowolnym miejscu lewej komory, której nie można wytłumaczyć wyłącznie stanami przeciążenia ciśnieniowego, po wykluczeniu innych stanów, które mogą powodować przerost lewej komory. 54
  • Próg 13-14 mm może być diagnostyczny przy dodatnim wywiadzie rodzinnym lub dodatnim teście genetycznym. 55
  • W przypadku dzieci próg jest dostosowany do wielkości ciała i wzrostu. Wynik Z ≥2 odchyleń standardowych powyżej średniej dla dziecka z dodatnim wywiadem rodzinnym lub dodatnim testem genetycznym jest wystarczający do diagnozy, podczas gdy wynik Z >2,5 u bezobjawowych dzieci bez wywiadu rodzinnego jest odpowiedni do diagnozy. 56

Nadzór epidemiologiczny i badania przesiewowe są kluczowe dla wczesnego wykrywania HCM:

  • Zalecane jest początkowe wykonanie EKG i 24-48-godzinnego ambulatoryjnego monitorowania EKG, a następnie nadzorcze EKG co 1-2 lata. 57
  • Rezonans magnetyczny serca należy wykonać u pacjentów z HCM, gdy echokardiografia jest niejednoznaczna, gdy istnieje podejrzenie alternatywnej diagnozy (np. choroby naciekowe/spichrzeniowe), do stratyfikacji ryzyka nagłej śmierci sercowej oraz może być potrzebny do wyboru i planowania terapii redukcji przegrody. 58
  • Badania genetyczne powinny być oferowane pacjentom z HCM w celu wyjaśnienia podstaw genetycznych i umożliwienia badań przesiewowych rodziny. 59
  • U krewnych pierwszego stopnia pacjentów z HCM, badania przesiewowe kliniczne powinny obejmować EKG i TTE podczas początkowej oceny, a następnie okresowe kontrole zgodnie z ich wiekiem (1-2 lata u nastolatków, 3-5 lat u dorosłych) lub jeśli zmienia się stan kliniczny. 60

Zwiększona dostępność badań genetycznych identyfikuje rosnącą populację osób znanych jako nosiciele patogennej mutacji (genotyp-dodatni), ale bez wyraźnych klinicznych objawów choroby. 61

Podsumowanie epidemiologii kardiomiopatii przerostowej

Kardiomiopatia przerostowa jest jedną z najczęstszych dziedzicznych chorób serca z globalną częstością występowania szacowaną na 0,2% (1 na 500 osób dorosłych). Około 70% przypadków stanowi postać zastawkowa (obstrukcyjna), a 30% postać niezastawkowa. Choroba częściej występuje u mężczyzn, mimo autosomalnego dominującego wzorca dziedziczenia, bez predylekcji płciowej. Większość przypadków diagnozuje się w trzeciej dekadzie życia, choć HCM może wystąpić w każdym wieku.

Niepokojącym zjawiskiem jest znacząca luka diagnostyczna – szacuje się, że tylko 10-20% przypadków HCM jest klinicznie identyfikowanych. Obserwuje się tendencję wzrostową w częstości występowania HCM, co może wynikać z większej świadomości, lepszych metod diagnostycznych oraz zmian w kryteriach diagnostycznych. Przewiduje się dalszy wzrost liczby przypadków w najbliższych latach.

Wczesna i dokładna diagnostyka HCM jest kluczowa dla poprawy wyników leczenia. Obejmuje ona badania obrazowe, elektrokardiografię, monitorowanie ambulatoryjne oraz, w uzasadnionych przypadkach, badania genetyczne. Systematyczny nadzór nad krewnymi pierwszego stopnia pacjentów z HCM jest niezbędny do identyfikacji nowych przypadków i zapobiegania powikłaniom, w tym nagłej śmierci sercowej, która jest szczególnym zagrożeniem w tej grupie pacjentów.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430788/
    The prevalence of HCM in the general population worldwide is 0.2% (1 in 500 adults), as determined by echocardiographic studies. Morphologic abnormalities are found in approximately 25% of first-degree relatives of patients with HCM. HCM is more common in males than females, although the condition is autosomal dominant, and genetic inheritance does not follow sex predilection. The explanation for this phenomenon may be related to screening strategies, genetics, or hormonal regulation. However, there is evidence that women are diagnosed at an older age and have a worse prognosis, suggesting that diagnosis strategies should be revisited. The most common presentation of HCM is in the third decade of life but may be present at any age, from newborns to older individuals.
  • #2 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    Hypertrophic cardiomyopathy (HCM) is reported in 0.5% of the outpatient population referred for echocardiography. The overall prevalence of HCM is low and has been estimated to occur in 0.05-0.2% of the population. Morphologic evidence of disease is found by echocardiography in approximately 25% of first-degree relatives of patients with HCM. Genetic testing still is in the early stages of research development but can be used to identify asymptomatic family members with the same mutation as the proband (index case). […] HCM is slightly more common in males than in females. However, the genetic inheritance pattern is autosomal dominant, without sex predilection. Modifying genetic, hormonal, and environmental factors may lead to a higher likelihood of identification in males, increased symptomatology, or higher degrees of LV outflow obstruction, with more prominent findings upon physical examination.
  • #3 Hypertrophic cardiomyopathy – Wikipedia
    https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy
    The prevalence of HCM in the general population globally is 0.2% (1 in 500 adults), as determined by echocardiographic studies. HCM is more common in males than females. The most common presentation of HCM is in the third decade of life, though it can present at any age, from newborns to the elderly. […] HCM is the leading cause of sudden cardiac death in young athletes in the United States, and the most common genetic cardiovascular disorder. One study found that the incidence of sudden cardiac death in young competitive athletes declined in the Veneto region of Italy by 89% since the 1982 introduction of routine cardiac screening for athletes, from an unusually high starting rate. As of 2010, however, studies have shown that the incidence of sudden cardiac death, among all people with HCM, has declined to one percent or less. Screen-positive individuals who are diagnosed with cardiac disease are usually told to avoid competitive athletics.
  • #4 Hypertrophic cardiomyopathy epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_epidemiology_and_demographics
    Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease. Prevalence rates have been reported between 1:500 (0.2%) and 1:3,000 (0.03%) because of variations in study designs and cohort characteristics including different age groups and ethnicity. According to the CARDIA (Coronary Artery Risk Development in Young Adults) cohort study that used standard echocardiography in 4,111 unrelated people 23 to 35 years of age, HCM prevalence is reported as 1 in 500 persons (0.2%). Nevertheless, lower prevalence has been reported in some European countries such as Germany (0.07%). A recent analysis of U.S. claims data reported a prevalence of clinically diagnosed HCM in approximately 1:3,000 (0.03%). According to Semsarian et al. „For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population.”
  • #5 Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy by Yi Chen, Qingjiang Chen, Zhaowei Huang, Wenyang Wang, Zhigang Gao :: SSRN
    https://papers.ssrn.com/sol3/papers.cfm?abstract_id=4907493
    Hypertrophic cardiomyopathy (HCM) is a prevalent hereditary heart disease characterized by significant clinical and genetic heterogeneity. The global prevalence of HCM ranges from 1:200 to 1:500, with regional variations. […] This review discusses the epidemiology, diagnosis, and treatment strategies of HCM, providing guidance and reference for clinical practice.
  • #6 Cardiomyopathy: Epidemiology, Etiology, and Pathophysiology | MedPage Today
    https://www.medpagetoday.com/medical-journeys/cardiomyopathy/97961
    Hypertrophic cardiomyopathy (HCM) is thought to be the most common of the genetic cardiomyopathies, at 1 in 500 of the general population, inherited in an autosomal dominant pattern. […] „The characteristic diversity of the HCM phenotype is attributable to the disease-causing mutations and probably to the influence of modifier genes and environmental factors,” the AHA classification document noted.
  • #7 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know
    https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy
    Hypertrophic cardiomyopathy (HCM) is the most common inherited monogenic cardiac disorder, affecting 0.2-0.5% of the population.1,2 In the United States, 750,000 people are estimated to have HCM; however, only approximately 100,000 people have been diagnosed, signifying a large gap in the recognition and understanding of this disease.3 […] Genetic testing is also reasonable to facilitate identification of first-degree family members at risk for developing HCM. If a genetic variant causal for HCM is identified in the proband and affected relatives, relatives who do not carry the familial variant can be dismissed from ongoing clinical screening. If genetic testing is not performed or if a causal variant is not identified in the proband, ongoing periodic clinical surveillance of relatives with electrocardiography and echocardiography every 3-5 years is recommended.
  • #8 An evidence review and gap analysis for obstructive hypertrophic cardiomyopathy | BMC Cardiovascular Disorders | Full Text
    https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-024-04084-7
    In contrast to HCM, studies reporting global epidemiological data for oHCM were not identified, with limited data found for specific countries of interest. […] No studies reporting oHCM prevalence or incidence data were identified for France, Italy, Spain, or Canada. […] Reported HCM/oHCM prevalence and incidence estimates may not accurately represent the true prevalence as the disease is frequently misdiagnosed or underrecognized in clinical practice. […] It is estimated that only 10% of HCM cases are clinically identified, with only 6% of identified cases being symptomatic. […] These challenges may ultimately lead to less accurate epidemiological (and burden) estimates. […] Overall, significant gaps in prevalence and incidence data for HCM and oHCM were identified, with no data reported for most of the countries of interest. Evidence gaps related to accuracy of prevalence and incidence estimates were also identified. Future research should focus on assessing HCM and oHCM prevalence and incidence in countries in which no data or only limited data were available.
  • #9 Stable Rates of Obstructive Hypertrophic Cardiomyopathy in a Contemporary Era
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8770922/
    Hypertrophic cardiomyopathy is the most common genetic heart disease in the US, with an estimated prevalence of 1 in 500. However, the extent to which obstructive hypertrophic cardiomyopathy is clinically recognized is not well-established. Therefore, the objective of this study was to estimate the annual prevalence of clinically diagnosed oHCM in the US from 2016 to 2018. In 2016, 4,612 unique patients had clinical diagnosis of oHCM, resulting in an estimated oHCM prevalence of 1.65 per 10,000. The prevalence of oHCM in males and females was 2.07 and 1.26, respectively. Prevalence of oHCM was highest in patients 55-64 years of age (4.82). Prevalence of oHCM generally increased with age, from 0.36 per 10,000 in those under 18 to 4.82 per 10,000 in those 55-65. Trends in prevalence of oHCM over time, including by sex and age group, remained similar and consistent in 2017 and 2018. The prevalence of oHCM was stable over the 3-year time period, including higher rates of oHCM in males and patients aged 55-64 years. These results suggest that the majority of privately insured patients with oHCM are undiagnosed in the US and reinforce the need for policies and research to improve the clinical identification of oHCM patients in the US.
  • #10 Hypertrophic cardiomyopathy epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_epidemiology_and_demographics
    Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease. Prevalence rates have been reported between 1:500 (0.2%) and 1:3,000 (0.03%) because of variations in study designs and cohort characteristics including different age groups and ethnicity. According to the CARDIA (Coronary Artery Risk Development in Young Adults) cohort study that used standard echocardiography in 4,111 unrelated people 23 to 35 years of age, HCM prevalence is reported as 1 in 500 persons (0.2%). Nevertheless, lower prevalence has been reported in some European countries such as Germany (0.07%). A recent analysis of U.S. claims data reported a prevalence of clinically diagnosed HCM in approximately 1:3,000 (0.03%). According to Semsarian et al. „For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population.”
  • #11 Hypertrophic cardiomyopathy (HCM) – BHF
    https://www.bhf.org.uk/informationsupport/conditions/hypertrophic-cardiomyopathy
    About 1 in 500 of the UK population has the condition. […] HCM is a mostly inherited heart condition, which means that it can be passed on through families. […] If you’re a parent, sibling or child of someone who has HCM, it’s recommended that you’re seen at a specialist inherited heart conditions clinic for an assessment and to talk about the option of genetic testing and screening tests for your heart. […] If you have HCM, you may be more at risk of other health issues. […] This is why its important to diagnose people who have HCM, so they can have treatment to stop this from happening.
  • #12
    https://link.springer.com/article/10.1007/s40119-024-00396-z
    Data on the prevalence of hypertrophic cardiomyopathy (HCM), characteristics of patients with HCM, and treatment patterns in Japan are limited. This study aimed to estimate the prevalence of HCM and describe the patient characteristics, treatment patterns, and utilization of medical expense subsidies in Japan, using payer claims data from insurers. […] The estimated prevalence of HCM increased from 9.3/10,000 people in 2017 to 11.1/10,000 people in 2021. […] This study is the first to evaluate the prevalence of HCM in Japan using data from the general population as the denominator. It indicated that patients with HCM are typically 50 years old, have a high prevalence of comorbidities, are commonly treated with beta-blockers, and rarely receive medical expense subsidies for designated intractable diseases.
  • #13
    https://link.springer.com/article/10.1007/s40119-024-00396-z
    The estimated standardized prevalence of HCM increased over the 5-year period from 9.3 per 10,000 people in 2017 to 11.1 per 10,000 people in 2021, to reach an overall estimated 142,115 patients with HCM in Japan in 2021. […] The overall estimated prevalence of HCM in Japan slightly increased between 2018 and 2019, and this increase corresponds to the release of the Japanese guidelines for the diagnosis management of HCM. […] The proportion of women with an HCM diagnosis also increased with age. […] The sensitivity analysis in this study suggested that the majority of younger patients with HCM (aged under 75 years) compared with patients aged at least 75 years attended medical institutions only once per year or less. […] In 2021, only a small proportion of patients with HCM covered by AEMSS or Kokuho received medical expense subsidies for designated intractable diseases.
  • #14 Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China | Scientific Reports
    https://www.nature.com/articles/s41598-022-20042-9
    There are limited studies on the prevalence and incidence of clinically diagnosed hypertrophic myocardiopathy (HCM) and its mortality in the Chinese population, and the projected population burden of HCM over the next decades. […] The prevalence of HCM was 0.0069% (95%CI, 0.00650.0072%; N=1343) in 2010, rising to 0.076% (95% CI, 0.0740.077%; N=16,616) in 2019, and the incidence of HCM was 6.85 per 100 000 person-year in 2010, rising to 11.76 per 100 000 person-year in 2019. […] The APPC for the rising incidence of HCM was 5.8% and the expected numbers will double increase in 2029 by assuming the same increase trend as the last decades. […] The calculated HCM prevalence was much lower compared to prior screening studies from 2004, although the predicted HCM incidence would double over the next decades.
  • #15 An evidence review and gap analysis for obstructive hypertrophic cardiomyopathy | BMC Cardiovascular Disorders | Full Text
    https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-024-04084-7
    Patients with obstructive hypertrophic cardiomyopathy (oHCM) have a substantial humanistic, clinical, and economic burden due to the array of symptoms and complications associated with the disease. […] Significant evidence gaps were noted for the epidemiology, treatment, and burden of oHCM. […] Major evidentiary gaps exist for the epidemiology, treatment, and burden of oHCM. Future research should address these gaps, with a specific focus on generating real-world evidence for Canada and European countries that will support the evaluation of emerging therapies in these regions. […] The global prevalence of HCM was well documented in clinical reviews and guidelines. […] Global HCM prevalence estimates were consistently reported to be 1:200 to 1:500. […] Prevalence estimates for HCM were identified for the US, Germany, and the UK; however, no estimates were found for France, Italy, Spain, Canada, and Japan.
  • #16 An evidence review and gap analysis for obstructive hypertrophic cardiomyopathy | BMC Cardiovascular Disorders | Full Text
    https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-024-04084-7
    In contrast to HCM, studies reporting global epidemiological data for oHCM were not identified, with limited data found for specific countries of interest. […] No studies reporting oHCM prevalence or incidence data were identified for France, Italy, Spain, or Canada. […] Reported HCM/oHCM prevalence and incidence estimates may not accurately represent the true prevalence as the disease is frequently misdiagnosed or underrecognized in clinical practice. […] It is estimated that only 10% of HCM cases are clinically identified, with only 6% of identified cases being symptomatic. […] These challenges may ultimately lead to less accurate epidemiological (and burden) estimates. […] Overall, significant gaps in prevalence and incidence data for HCM and oHCM were identified, with no data reported for most of the countries of interest. Evidence gaps related to accuracy of prevalence and incidence estimates were also identified. Future research should focus on assessing HCM and oHCM prevalence and incidence in countries in which no data or only limited data were available.
  • #17
    https://step2.medbullets.com/cardiovascular/121587/hypertrophic-cardiomyopathy
    Hypertrophic Cardiomyopathy (HCM) is a prominent form of cardiomyopathy characterized by the thickening (hypertrophy) of the heart muscle, particularly the left ventricle. This condition is caused by genetic mutations affecting proteins that play a role in myocardial growth and contraction. HCM often presents in adolescents, young adults, and adults with diverse symptoms like chest pain, dyspnea, palpitations, and syncope. […] […] Epidemiology […] Incidence […] second most common cardiomyopathy […] two types of cases […] obstructive comprises 70% of cases […] non-obstructive comprises 30% of cases […] […] […] Demographics […] young adults […] […] […] Risk factors […] family history of sudden cardiac death […] high-intensity athletes […] […] […] hypertrophic obstructive cardiomyopathy […] this disease is obstructive in most patients (70%)
  • #18 Hypertrophic cardiomyopathy | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/hypertrophic-cardiomyopathy?embed_domain=hackmd.io%2F%40yIPUAFeCSL2JsU8smR5nJQ%2Fbnjhjgjghjghjghfavicon.ico&lang=us
    There is a slight male prevalence and is present in 1 out of 500 in the general population, probably remaining undiagnosed and asymptomatic in the majority of affected individuals. […] LVOT obstruction is present in 70% of cases, it is defined as a gradient 30 mmHg. […] The clinical diagnosis can be made by imaging modalities such as echocardiography or cardiac MRI by the demonstration of a maximal left ventricular wall thickness of 15 mm in the absence of any other causes of left ventricular hypertrophy. […] While the majority of patients with hypertrophic cardiomyopathy have a normal life expectancy significant morbidity and mortality may occur secondary to heart failure and sudden cardiac death.
  • #19 Stable Rates of Obstructive Hypertrophic Cardiomyopathy in a Contemporary Era
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8770922/
    Hypertrophic cardiomyopathy is the most common genetic heart disease in the US, with an estimated prevalence of 1 in 500. However, the extent to which obstructive hypertrophic cardiomyopathy is clinically recognized is not well-established. Therefore, the objective of this study was to estimate the annual prevalence of clinically diagnosed oHCM in the US from 2016 to 2018. In 2016, 4,612 unique patients had clinical diagnosis of oHCM, resulting in an estimated oHCM prevalence of 1.65 per 10,000. The prevalence of oHCM in males and females was 2.07 and 1.26, respectively. Prevalence of oHCM was highest in patients 55-64 years of age (4.82). Prevalence of oHCM generally increased with age, from 0.36 per 10,000 in those under 18 to 4.82 per 10,000 in those 55-65. Trends in prevalence of oHCM over time, including by sex and age group, remained similar and consistent in 2017 and 2018. The prevalence of oHCM was stable over the 3-year time period, including higher rates of oHCM in males and patients aged 55-64 years. These results suggest that the majority of privately insured patients with oHCM are undiagnosed in the US and reinforce the need for policies and research to improve the clinical identification of oHCM patients in the US.
  • #20 Stable Rates of Obstructive Hypertrophic Cardiomyopathy in a Contemporary Era
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8770922/
    Hypertrophic cardiomyopathy is the most common genetic heart disease in the US, with an estimated prevalence of 1 in 500. However, the extent to which obstructive hypertrophic cardiomyopathy is clinically recognized is not well-established. Therefore, the objective of this study was to estimate the annual prevalence of clinically diagnosed oHCM in the US from 2016 to 2018. In 2016, 4,612 unique patients had clinical diagnosis of oHCM, resulting in an estimated oHCM prevalence of 1.65 per 10,000. The prevalence of oHCM in males and females was 2.07 and 1.26, respectively. Prevalence of oHCM was highest in patients 55-64 years of age (4.82). Prevalence of oHCM generally increased with age, from 0.36 per 10,000 in those under 18 to 4.82 per 10,000 in those 55-65. Trends in prevalence of oHCM over time, including by sex and age group, remained similar and consistent in 2017 and 2018. The prevalence of oHCM was stable over the 3-year time period, including higher rates of oHCM in males and patients aged 55-64 years. These results suggest that the majority of privately insured patients with oHCM are undiagnosed in the US and reinforce the need for policies and research to improve the clinical identification of oHCM patients in the US.
  • #21 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430788/
    The prevalence of HCM in the general population worldwide is 0.2% (1 in 500 adults), as determined by echocardiographic studies. Morphologic abnormalities are found in approximately 25% of first-degree relatives of patients with HCM. HCM is more common in males than females, although the condition is autosomal dominant, and genetic inheritance does not follow sex predilection. The explanation for this phenomenon may be related to screening strategies, genetics, or hormonal regulation. However, there is evidence that women are diagnosed at an older age and have a worse prognosis, suggesting that diagnosis strategies should be revisited. The most common presentation of HCM is in the third decade of life but may be present at any age, from newborns to older individuals.
  • #22 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    Hypertrophic cardiomyopathy (HCM) is reported in 0.5% of the outpatient population referred for echocardiography. The overall prevalence of HCM is low and has been estimated to occur in 0.05-0.2% of the population. Morphologic evidence of disease is found by echocardiography in approximately 25% of first-degree relatives of patients with HCM. Genetic testing still is in the early stages of research development but can be used to identify asymptomatic family members with the same mutation as the proband (index case). […] HCM is slightly more common in males than in females. However, the genetic inheritance pattern is autosomal dominant, without sex predilection. Modifying genetic, hormonal, and environmental factors may lead to a higher likelihood of identification in males, increased symptomatology, or higher degrees of LV outflow obstruction, with more prominent findings upon physical examination.
  • #23
    https://journals.lww.com/jpcs/fulltext/2015/01020/epidemiology_of_cardiomyopathy___a_clinical_and.11.aspx
    Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. […] HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. […] The estimated prevalence rate is 1 out of 500 young adults (35 years of age). […] Our study shows preponderance of HCM in males (83.7%) with sex ratio of 5.5:1 compared to other Indian study (3.7:1), Western (2.9:1), and Japanese (2.3:1) studies. […] HOCM occurred less as compared to the nonobstructive type of HCM. […] FHCM accounted for 18% (n = 9) of total HCM families (n = 50), whereas sporadic cases were comparatively high. […] HCM patients are treated through various drugs to minimize the risk of sudden death or arrhythmias and other conditions which may increase disease pathogenicity.
  • #24
    https://link.springer.com/article/10.1007/s00392-023-02328-8
    Hypertrophic cardiomyopathy is estimated to affect 1 out of 500 people. The ApHCM has a different prevalence in cohorts of patients with HCM, which is relatively higher in Asian ethnicity. It is considered less common (8%) in Europe and North America with a majority (84%) of White race. However, ApHCM may occur more frequently in Asian race, in whom it is seen in up to 40% of HCM patients (21% in China, 30% in Japan, and 38% in Korea) of patients with HCM. […] ApHCM is worldwide in distribution and affects males more frequently than females, with male-to-female ratios typically 1.6 to 2.8:1. Most commonly diagnosed in midlife, the early- and late-onset expressions are also known to occur.
  • #25 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430788/
    The prevalence of HCM in the general population worldwide is 0.2% (1 in 500 adults), as determined by echocardiographic studies. Morphologic abnormalities are found in approximately 25% of first-degree relatives of patients with HCM. HCM is more common in males than females, although the condition is autosomal dominant, and genetic inheritance does not follow sex predilection. The explanation for this phenomenon may be related to screening strategies, genetics, or hormonal regulation. However, there is evidence that women are diagnosed at an older age and have a worse prognosis, suggesting that diagnosis strategies should be revisited. The most common presentation of HCM is in the third decade of life but may be present at any age, from newborns to older individuals.
  • #26 Hypertrophic cardiomyopathy epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_epidemiology_and_demographics
    The case-fatality rate is 6 per 10,000 per year in young people without symptoms of hypertrophic cardiomyopathy but in symptomatic patients a case-fatality rate is 420 and 110 deaths per 10,000 per year in tertiary referral centers and general hospital clinics respectively. Hypertrophic cardiomyopathy affects men and women equally. However, despite more frequent outflow obstruction, women with HCM are underrecognized and referred to centers later than men, often with more advanced heart failure. Greater awareness of HCM in women should lead to earlier diagnosis and treatment, with implications for improved quality of life. HCM is less prevalent in African Americans, but they are more prone to early presentation, developing heart failure, and sudden death is more prevalent due to less awareness and screening in this population.
  • #27 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430788/
    The prevalence of HCM in the general population worldwide is 0.2% (1 in 500 adults), as determined by echocardiographic studies. Morphologic abnormalities are found in approximately 25% of first-degree relatives of patients with HCM. HCM is more common in males than females, although the condition is autosomal dominant, and genetic inheritance does not follow sex predilection. The explanation for this phenomenon may be related to screening strategies, genetics, or hormonal regulation. However, there is evidence that women are diagnosed at an older age and have a worse prognosis, suggesting that diagnosis strategies should be revisited. The most common presentation of HCM is in the third decade of life but may be present at any age, from newborns to older individuals.
  • #28 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    In general, HCM has a bimodal peak of occurrence. The most common presentation is in the third decade of life, but it may present in persons of any age, from newborns to elderly individuals. In children, inherited cases are found in an age range from newborn (ie, stillborn babies) to adult. The peak incidence is in these cases is in the second decade of life. In adults, the peak incidence is in the third decade of life, with the vast majority of cases occurring in the age range between the third and sixth decades of life.
  • #29 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    In general, HCM has a bimodal peak of occurrence. The most common presentation is in the third decade of life, but it may present in persons of any age, from newborns to elderly individuals. In children, inherited cases are found in an age range from newborn (ie, stillborn babies) to adult. The peak incidence is in these cases is in the second decade of life. In adults, the peak incidence is in the third decade of life, with the vast majority of cases occurring in the age range between the third and sixth decades of life.
  • #30 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    In general, HCM has a bimodal peak of occurrence. The most common presentation is in the third decade of life, but it may present in persons of any age, from newborns to elderly individuals. In children, inherited cases are found in an age range from newborn (ie, stillborn babies) to adult. The peak incidence is in these cases is in the second decade of life. In adults, the peak incidence is in the third decade of life, with the vast majority of cases occurring in the age range between the third and sixth decades of life.
  • #31 Pediatric Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/890068-overview
    Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population) in adults. Studies among children suggest a lower incidence for disease expression beginning in childhood, with a rate of 3-5 cases per 1 million children. Morphologic evidence of disease is found on echocardiography in approximately 25% of first-degree relatives of patients with HCM, a finding consistent with variable expressivity. […] The prevalence of hypertrophic cardiomyopathy is thought to be similar throughout the world; however, certain variants, such as apical hypertrophy, may be more predominant among Asians. […] HCM does not have a racial or ethnic predisposition and has been reported in patients of all races. […] This condition may occur at any age, from the newborn to the elderly. Overall, its most common presentation is in the third decade of life. Among children younger than 18 years diagnosed with HCM, the median age at diagnosis is 7 years; one third are diagnosed before age 1 year.
  • #32 Pediatric Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/890068-overview
    Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population) in adults. Studies among children suggest a lower incidence for disease expression beginning in childhood, with a rate of 3-5 cases per 1 million children. Morphologic evidence of disease is found on echocardiography in approximately 25% of first-degree relatives of patients with HCM, a finding consistent with variable expressivity. […] The prevalence of hypertrophic cardiomyopathy is thought to be similar throughout the world; however, certain variants, such as apical hypertrophy, may be more predominant among Asians. […] HCM does not have a racial or ethnic predisposition and has been reported in patients of all races. […] This condition may occur at any age, from the newborn to the elderly. Overall, its most common presentation is in the third decade of life. Among children younger than 18 years diagnosed with HCM, the median age at diagnosis is 7 years; one third are diagnosed before age 1 year.
  • #33 How Common Is Hypertrophic Cardiomyopathy?logo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57269/2024/03/26/how-common-hypertrophic-cardiomyopathy
    In a Mayo Clinic study, HCM incidence has increased during the past several decades. […] During the study period, 270 people received diagnoses of HCM, with a point prevalence of 89 per 100,000 population at the beginning of 2016. […] The incidence of HCM increased with each decade and was higher than the incidence in a previous study of the same community (1975–1984). […] The data suggest HCM’s incidence is increasing, likely due to a combination of greater awareness, better diagnostics, and a shift in diagnostic criteria over time.
  • #34 Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China | Scientific Reports
    https://www.nature.com/articles/s41598-022-20042-9
    There are limited studies on the prevalence and incidence of clinically diagnosed hypertrophic myocardiopathy (HCM) and its mortality in the Chinese population, and the projected population burden of HCM over the next decades. […] The prevalence of HCM was 0.0069% (95%CI, 0.00650.0072%; N=1343) in 2010, rising to 0.076% (95% CI, 0.0740.077%; N=16,616) in 2019, and the incidence of HCM was 6.85 per 100 000 person-year in 2010, rising to 11.76 per 100 000 person-year in 2019. […] The APPC for the rising incidence of HCM was 5.8% and the expected numbers will double increase in 2029 by assuming the same increase trend as the last decades. […] The calculated HCM prevalence was much lower compared to prior screening studies from 2004, although the predicted HCM incidence would double over the next decades.
  • #35 Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China | Scientific Reports
    https://www.nature.com/articles/s41598-022-20042-9
    The prevalence of HCM was 0.0069% in 2010 and rising to 0.076% in 2019, and the rising incidence of 6.85 per 1000 000 person-year in 2010 to 11.76 per 1000 000 person-year in 2019; […] the AAPC for the rising incidence of HCM was 5.8% and the expected number will double by 2029; […] HCM was associated with a stable mortality during the studied period.
  • #36
    https://link.springer.com/article/10.1007/s40119-024-00396-z
    The estimated standardized prevalence of HCM increased over the 5-year period from 9.3 per 10,000 people in 2017 to 11.1 per 10,000 people in 2021, to reach an overall estimated 142,115 patients with HCM in Japan in 2021. […] The overall estimated prevalence of HCM in Japan slightly increased between 2018 and 2019, and this increase corresponds to the release of the Japanese guidelines for the diagnosis management of HCM. […] The proportion of women with an HCM diagnosis also increased with age. […] The sensitivity analysis in this study suggested that the majority of younger patients with HCM (aged under 75 years) compared with patients aged at least 75 years attended medical institutions only once per year or less. […] In 2021, only a small proportion of patients with HCM covered by AEMSS or Kokuho received medical expense subsidies for designated intractable diseases.
  • #37 How Common Is Hypertrophic Cardiomyopathy?logo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57269/2024/03/26/how-common-hypertrophic-cardiomyopathy
    In a Mayo Clinic study, HCM incidence has increased during the past several decades. […] During the study period, 270 people received diagnoses of HCM, with a point prevalence of 89 per 100,000 population at the beginning of 2016. […] The incidence of HCM increased with each decade and was higher than the incidence in a previous study of the same community (1975–1984). […] The data suggest HCM’s incidence is increasing, likely due to a combination of greater awareness, better diagnostics, and a shift in diagnostic criteria over time.
  • #38
    https://link.springer.com/article/10.1007/s40119-024-00396-z
    The estimated standardized prevalence of HCM increased over the 5-year period from 9.3 per 10,000 people in 2017 to 11.1 per 10,000 people in 2021, to reach an overall estimated 142,115 patients with HCM in Japan in 2021. […] The overall estimated prevalence of HCM in Japan slightly increased between 2018 and 2019, and this increase corresponds to the release of the Japanese guidelines for the diagnosis management of HCM. […] The proportion of women with an HCM diagnosis also increased with age. […] The sensitivity analysis in this study suggested that the majority of younger patients with HCM (aged under 75 years) compared with patients aged at least 75 years attended medical institutions only once per year or less. […] In 2021, only a small proportion of patients with HCM covered by AEMSS or Kokuho received medical expense subsidies for designated intractable diseases.
  • #39 Hypertrophic cardiomyopathy – Wikipedia
    https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy
    The prevalence of HCM in the general population globally is 0.2% (1 in 500 adults), as determined by echocardiographic studies. HCM is more common in males than females. The most common presentation of HCM is in the third decade of life, though it can present at any age, from newborns to the elderly. […] HCM is the leading cause of sudden cardiac death in young athletes in the United States, and the most common genetic cardiovascular disorder. One study found that the incidence of sudden cardiac death in young competitive athletes declined in the Veneto region of Italy by 89% since the 1982 introduction of routine cardiac screening for athletes, from an unusually high starting rate. As of 2010, however, studies have shown that the incidence of sudden cardiac death, among all people with HCM, has declined to one percent or less. Screen-positive individuals who are diagnosed with cardiac disease are usually told to avoid competitive athletics.
  • #40 Hypertrophic cardiomyopathy – Wikipedia
    https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy
    The prevalence of HCM in the general population globally is 0.2% (1 in 500 adults), as determined by echocardiographic studies. HCM is more common in males than females. The most common presentation of HCM is in the third decade of life, though it can present at any age, from newborns to the elderly. […] HCM is the leading cause of sudden cardiac death in young athletes in the United States, and the most common genetic cardiovascular disorder. One study found that the incidence of sudden cardiac death in young competitive athletes declined in the Veneto region of Italy by 89% since the 1982 introduction of routine cardiac screening for athletes, from an unusually high starting rate. As of 2010, however, studies have shown that the incidence of sudden cardiac death, among all people with HCM, has declined to one percent or less. Screen-positive individuals who are diagnosed with cardiac disease are usually told to avoid competitive athletics.
  • #41
    https://www.rgare.com/knowledge-center/article/an-update-on-hypertrophic-cardiomyopathy
    Hypertrophic cardiomyopathy (HCM) is a heterogeneous inherited cardiac condition which has been studied intensely ever since the publication of its first formal description in 1958. […] HCM is a disease found worldwide with a fairly consistent global prevalence of 0.2% (or 1 in 500). […] The increased availability of genetic testing is identifying a growing population of individuals known to carry a pathogenic mutation (genotype-positive) but without clear clinical manifestations of the disease. […] The natural history of HCM is varied and unpredictable. Early studies from tertiary care centers reported adult HCM mortality as high as 6% per year. However, more recent research from community-based HCM populations has shown much more favorable outcomes, with mortality of less than 1% per year.
  • #42 Hypertrophic cardiomyopathy epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_epidemiology_and_demographics
    The case-fatality rate is 6 per 10,000 per year in young people without symptoms of hypertrophic cardiomyopathy but in symptomatic patients a case-fatality rate is 420 and 110 deaths per 10,000 per year in tertiary referral centers and general hospital clinics respectively. Hypertrophic cardiomyopathy affects men and women equally. However, despite more frequent outflow obstruction, women with HCM are underrecognized and referred to centers later than men, often with more advanced heart failure. Greater awareness of HCM in women should lead to earlier diagnosis and treatment, with implications for improved quality of life. HCM is less prevalent in African Americans, but they are more prone to early presentation, developing heart failure, and sudden death is more prevalent due to less awareness and screening in this population.
  • #43 Pediatric Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/890068-overview
    Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population) in adults. Studies among children suggest a lower incidence for disease expression beginning in childhood, with a rate of 3-5 cases per 1 million children. Morphologic evidence of disease is found on echocardiography in approximately 25% of first-degree relatives of patients with HCM, a finding consistent with variable expressivity. […] The prevalence of hypertrophic cardiomyopathy is thought to be similar throughout the world; however, certain variants, such as apical hypertrophy, may be more predominant among Asians. […] HCM does not have a racial or ethnic predisposition and has been reported in patients of all races. […] This condition may occur at any age, from the newborn to the elderly. Overall, its most common presentation is in the third decade of life. Among children younger than 18 years diagnosed with HCM, the median age at diagnosis is 7 years; one third are diagnosed before age 1 year.
  • #44
    https://link.springer.com/article/10.1007/s00392-023-02328-8
    Hypertrophic cardiomyopathy is estimated to affect 1 out of 500 people. The ApHCM has a different prevalence in cohorts of patients with HCM, which is relatively higher in Asian ethnicity. It is considered less common (8%) in Europe and North America with a majority (84%) of White race. However, ApHCM may occur more frequently in Asian race, in whom it is seen in up to 40% of HCM patients (21% in China, 30% in Japan, and 38% in Korea) of patients with HCM. […] ApHCM is worldwide in distribution and affects males more frequently than females, with male-to-female ratios typically 1.6 to 2.8:1. Most commonly diagnosed in midlife, the early- and late-onset expressions are also known to occur.
  • #45
    https://link.springer.com/article/10.1007/s00392-023-02328-8
    Hypertrophic cardiomyopathy is estimated to affect 1 out of 500 people. The ApHCM has a different prevalence in cohorts of patients with HCM, which is relatively higher in Asian ethnicity. It is considered less common (8%) in Europe and North America with a majority (84%) of White race. However, ApHCM may occur more frequently in Asian race, in whom it is seen in up to 40% of HCM patients (21% in China, 30% in Japan, and 38% in Korea) of patients with HCM. […] ApHCM is worldwide in distribution and affects males more frequently than females, with male-to-female ratios typically 1.6 to 2.8:1. Most commonly diagnosed in midlife, the early- and late-onset expressions are also known to occur.
  • #46 Hypertrophic cardiomyopathy epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_epidemiology_and_demographics
    The case-fatality rate is 6 per 10,000 per year in young people without symptoms of hypertrophic cardiomyopathy but in symptomatic patients a case-fatality rate is 420 and 110 deaths per 10,000 per year in tertiary referral centers and general hospital clinics respectively. Hypertrophic cardiomyopathy affects men and women equally. However, despite more frequent outflow obstruction, women with HCM are underrecognized and referred to centers later than men, often with more advanced heart failure. Greater awareness of HCM in women should lead to earlier diagnosis and treatment, with implications for improved quality of life. HCM is less prevalent in African Americans, but they are more prone to early presentation, developing heart failure, and sudden death is more prevalent due to less awareness and screening in this population.
  • #47 Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    https://www.mdpi.com/2227-9059/12/3/682
    HCM is classified depending on the presence of positive family history or positive genetic test into familial (60%) and non-familial HCM (40%). Most of the familial cases follow autosomal dominant inheritance with incomplete penetrance, variable expressivity, and heterogeneity. […] The clinical diagnosis of HCM in adult patients is typically established using any cardiac imaging technique that shows an end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, which cannot be explained solely by pressure overload states, and after ruling out any other conditions that may cause LV hypertrophy. A cutoff of 13–14 mm can be diagnostic with a positive family history or a positive genetic test. For diagnosis in children, the threshold is adjusted for body size and growth. Therefore, a Z-score ≥2 standard deviations above the mean for a child with a positive family history or a positive genetic test is sufficient for diagnosis, whereas a Z-score >2.5 in asymptomatic children with no family history is appropriate for diagnosis.
  • #48 Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    https://www.mdpi.com/2227-9059/12/3/682
    HCM is classified depending on the presence of positive family history or positive genetic test into familial (60%) and non-familial HCM (40%). Most of the familial cases follow autosomal dominant inheritance with incomplete penetrance, variable expressivity, and heterogeneity. […] The clinical diagnosis of HCM in adult patients is typically established using any cardiac imaging technique that shows an end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, which cannot be explained solely by pressure overload states, and after ruling out any other conditions that may cause LV hypertrophy. A cutoff of 13–14 mm can be diagnostic with a positive family history or a positive genetic test. For diagnosis in children, the threshold is adjusted for body size and growth. Therefore, a Z-score ≥2 standard deviations above the mean for a child with a positive family history or a positive genetic test is sufficient for diagnosis, whereas a Z-score >2.5 in asymptomatic children with no family history is appropriate for diagnosis.
  • #49 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430788/
    The prevalence of HCM in the general population worldwide is 0.2% (1 in 500 adults), as determined by echocardiographic studies. Morphologic abnormalities are found in approximately 25% of first-degree relatives of patients with HCM. HCM is more common in males than females, although the condition is autosomal dominant, and genetic inheritance does not follow sex predilection. The explanation for this phenomenon may be related to screening strategies, genetics, or hormonal regulation. However, there is evidence that women are diagnosed at an older age and have a worse prognosis, suggesting that diagnosis strategies should be revisited. The most common presentation of HCM is in the third decade of life but may be present at any age, from newborns to older individuals.
  • #50 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/152913-overview
    Hypertrophic cardiomyopathy (HCM) is reported in 0.5% of the outpatient population referred for echocardiography. The overall prevalence of HCM is low and has been estimated to occur in 0.05-0.2% of the population. Morphologic evidence of disease is found by echocardiography in approximately 25% of first-degree relatives of patients with HCM. Genetic testing still is in the early stages of research development but can be used to identify asymptomatic family members with the same mutation as the proband (index case). […] HCM is slightly more common in males than in females. However, the genetic inheritance pattern is autosomal dominant, without sex predilection. Modifying genetic, hormonal, and environmental factors may lead to a higher likelihood of identification in males, increased symptomatology, or higher degrees of LV outflow obstruction, with more prominent findings upon physical examination.
  • #51 Pediatric Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/890068-overview
    Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population) in adults. Studies among children suggest a lower incidence for disease expression beginning in childhood, with a rate of 3-5 cases per 1 million children. Morphologic evidence of disease is found on echocardiography in approximately 25% of first-degree relatives of patients with HCM, a finding consistent with variable expressivity. […] The prevalence of hypertrophic cardiomyopathy is thought to be similar throughout the world; however, certain variants, such as apical hypertrophy, may be more predominant among Asians. […] HCM does not have a racial or ethnic predisposition and has been reported in patients of all races. […] This condition may occur at any age, from the newborn to the elderly. Overall, its most common presentation is in the third decade of life. Among children younger than 18 years diagnosed with HCM, the median age at diagnosis is 7 years; one third are diagnosed before age 1 year.
  • #52
    https://journals.lww.com/jpcs/fulltext/2015/01020/epidemiology_of_cardiomyopathy___a_clinical_and.11.aspx
    Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. […] HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. […] The estimated prevalence rate is 1 out of 500 young adults (35 years of age). […] Our study shows preponderance of HCM in males (83.7%) with sex ratio of 5.5:1 compared to other Indian study (3.7:1), Western (2.9:1), and Japanese (2.3:1) studies. […] HOCM occurred less as compared to the nonobstructive type of HCM. […] FHCM accounted for 18% (n = 9) of total HCM families (n = 50), whereas sporadic cases were comparatively high. […] HCM patients are treated through various drugs to minimize the risk of sudden death or arrhythmias and other conditions which may increase disease pathogenicity.
  • #53
    https://journals.lww.com/jpcs/fulltext/2015/01020/epidemiology_of_cardiomyopathy___a_clinical_and.11.aspx
    Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. […] HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. […] The estimated prevalence rate is 1 out of 500 young adults (35 years of age). […] Our study shows preponderance of HCM in males (83.7%) with sex ratio of 5.5:1 compared to other Indian study (3.7:1), Western (2.9:1), and Japanese (2.3:1) studies. […] HOCM occurred less as compared to the nonobstructive type of HCM. […] FHCM accounted for 18% (n = 9) of total HCM families (n = 50), whereas sporadic cases were comparatively high. […] HCM patients are treated through various drugs to minimize the risk of sudden death or arrhythmias and other conditions which may increase disease pathogenicity.
  • #54 Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    https://www.mdpi.com/2227-9059/12/3/682
    HCM is classified depending on the presence of positive family history or positive genetic test into familial (60%) and non-familial HCM (40%). Most of the familial cases follow autosomal dominant inheritance with incomplete penetrance, variable expressivity, and heterogeneity. […] The clinical diagnosis of HCM in adult patients is typically established using any cardiac imaging technique that shows an end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, which cannot be explained solely by pressure overload states, and after ruling out any other conditions that may cause LV hypertrophy. A cutoff of 13–14 mm can be diagnostic with a positive family history or a positive genetic test. For diagnosis in children, the threshold is adjusted for body size and growth. Therefore, a Z-score ≥2 standard deviations above the mean for a child with a positive family history or a positive genetic test is sufficient for diagnosis, whereas a Z-score >2.5 in asymptomatic children with no family history is appropriate for diagnosis.
  • #55 Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    https://www.mdpi.com/2227-9059/12/3/682
    HCM is classified depending on the presence of positive family history or positive genetic test into familial (60%) and non-familial HCM (40%). Most of the familial cases follow autosomal dominant inheritance with incomplete penetrance, variable expressivity, and heterogeneity. […] The clinical diagnosis of HCM in adult patients is typically established using any cardiac imaging technique that shows an end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, which cannot be explained solely by pressure overload states, and after ruling out any other conditions that may cause LV hypertrophy. A cutoff of 13–14 mm can be diagnostic with a positive family history or a positive genetic test. For diagnosis in children, the threshold is adjusted for body size and growth. Therefore, a Z-score ≥2 standard deviations above the mean for a child with a positive family history or a positive genetic test is sufficient for diagnosis, whereas a Z-score >2.5 in asymptomatic children with no family history is appropriate for diagnosis.
  • #56 Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    https://www.mdpi.com/2227-9059/12/3/682
    HCM is classified depending on the presence of positive family history or positive genetic test into familial (60%) and non-familial HCM (40%). Most of the familial cases follow autosomal dominant inheritance with incomplete penetrance, variable expressivity, and heterogeneity. […] The clinical diagnosis of HCM in adult patients is typically established using any cardiac imaging technique that shows an end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, which cannot be explained solely by pressure overload states, and after ruling out any other conditions that may cause LV hypertrophy. A cutoff of 13–14 mm can be diagnostic with a positive family history or a positive genetic test. For diagnosis in children, the threshold is adjusted for body size and growth. Therefore, a Z-score ≥2 standard deviations above the mean for a child with a positive family history or a positive genetic test is sufficient for diagnosis, whereas a Z-score >2.5 in asymptomatic children with no family history is appropriate for diagnosis.
  • #57 2020 AHA/ACC Guideline for Hypertrophic Cardiomyopathy: Key Perspectives
    https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2020/11/18/18/47/2020-AHA-ACC-Guideline-for-HCM-GL-HCM
    The following are key perspectives from the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guideline for the management of patients with hypertrophic cardiomyopathy (HCM): […] An initial electrocardiogram (ECG) and 24- to 48-hour ambulatory ECG monitoring is recommended followed by surveillance ECG every 1-2 years. […] Cardiac magnetic resonance imaging should be obtained in HCM patients when echocardiography is inconclusive, if there is a suspicion for an alternative diagnosis (like infiltrative/storage diseases), for sudden cardiac death risk stratification, and may be needed for selection and planning of septal reduction therapy. […] Genetic testing should be offered to HCM patients to elucidate the genetic basis and to allow for family screening. […] In first-degree relatives of patients with HCM, clinical screening should include ECG and TTE during the initial evaluation followed by periodic follow-up according to their age (1-2 years in adolescents, 3-5 years in adults) or if clinical status changes.
  • #58 2020 AHA/ACC Guideline for Hypertrophic Cardiomyopathy: Key Perspectives
    https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2020/11/18/18/47/2020-AHA-ACC-Guideline-for-HCM-GL-HCM
    The following are key perspectives from the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guideline for the management of patients with hypertrophic cardiomyopathy (HCM): […] An initial electrocardiogram (ECG) and 24- to 48-hour ambulatory ECG monitoring is recommended followed by surveillance ECG every 1-2 years. […] Cardiac magnetic resonance imaging should be obtained in HCM patients when echocardiography is inconclusive, if there is a suspicion for an alternative diagnosis (like infiltrative/storage diseases), for sudden cardiac death risk stratification, and may be needed for selection and planning of septal reduction therapy. […] Genetic testing should be offered to HCM patients to elucidate the genetic basis and to allow for family screening. […] In first-degree relatives of patients with HCM, clinical screening should include ECG and TTE during the initial evaluation followed by periodic follow-up according to their age (1-2 years in adolescents, 3-5 years in adults) or if clinical status changes.
  • #59 2020 AHA/ACC Guideline for Hypertrophic Cardiomyopathy: Key Perspectives
    https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2020/11/18/18/47/2020-AHA-ACC-Guideline-for-HCM-GL-HCM
    The following are key perspectives from the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guideline for the management of patients with hypertrophic cardiomyopathy (HCM): […] An initial electrocardiogram (ECG) and 24- to 48-hour ambulatory ECG monitoring is recommended followed by surveillance ECG every 1-2 years. […] Cardiac magnetic resonance imaging should be obtained in HCM patients when echocardiography is inconclusive, if there is a suspicion for an alternative diagnosis (like infiltrative/storage diseases), for sudden cardiac death risk stratification, and may be needed for selection and planning of septal reduction therapy. […] Genetic testing should be offered to HCM patients to elucidate the genetic basis and to allow for family screening. […] In first-degree relatives of patients with HCM, clinical screening should include ECG and TTE during the initial evaluation followed by periodic follow-up according to their age (1-2 years in adolescents, 3-5 years in adults) or if clinical status changes.
  • #60 2020 AHA/ACC Guideline for Hypertrophic Cardiomyopathy: Key Perspectives
    https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2020/11/18/18/47/2020-AHA-ACC-Guideline-for-HCM-GL-HCM
    The following are key perspectives from the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guideline for the management of patients with hypertrophic cardiomyopathy (HCM): […] An initial electrocardiogram (ECG) and 24- to 48-hour ambulatory ECG monitoring is recommended followed by surveillance ECG every 1-2 years. […] Cardiac magnetic resonance imaging should be obtained in HCM patients when echocardiography is inconclusive, if there is a suspicion for an alternative diagnosis (like infiltrative/storage diseases), for sudden cardiac death risk stratification, and may be needed for selection and planning of septal reduction therapy. […] Genetic testing should be offered to HCM patients to elucidate the genetic basis and to allow for family screening. […] In first-degree relatives of patients with HCM, clinical screening should include ECG and TTE during the initial evaluation followed by periodic follow-up according to their age (1-2 years in adolescents, 3-5 years in adults) or if clinical status changes.
  • #61
    https://www.rgare.com/knowledge-center/article/an-update-on-hypertrophic-cardiomyopathy
    Hypertrophic cardiomyopathy (HCM) is a heterogeneous inherited cardiac condition which has been studied intensely ever since the publication of its first formal description in 1958. […] HCM is a disease found worldwide with a fairly consistent global prevalence of 0.2% (or 1 in 500). […] The increased availability of genetic testing is identifying a growing population of individuals known to carry a pathogenic mutation (genotype-positive) but without clear clinical manifestations of the disease. […] The natural history of HCM is varied and unpredictable. Early studies from tertiary care centers reported adult HCM mortality as high as 6% per year. However, more recent research from community-based HCM populations has shown much more favorable outcomes, with mortality of less than 1% per year.

Zobacz więcej

nagła śmierć sercowa badanie genetyczne objawy kardiomiopatii stratyfikacja ryzyka niewydolność serca dziedziczenie autosomalne dominujące badanie morfologiczne przerost koniuszkowy ambulatoryjne monitorowanie EKG przeciążenie ciśnieniowe terapia redukcji przegrody sportowiec wyczynowy dziedziczna choroba serca przerost lewej komory rezonans magnetyczny serca badanie echokardiograficzne zwężenie drogi odpływu choroba spichrzeniowa kardiomiopatia przerostowa penetracja genu